Hossein Najmabadi, Ph.D.

 

University of Social Welfare and Rehabilitation Sciences

Genetics Research Center

Koodakyar Ave, Evin, Tehran – Iran

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Kodakyar Ave., Daneshjo Blvd., Evin, Post code:  1985713834, Tehran, Iran

 

Tel: +982122180138

Fax: +982122180138

Mobile: 0912-1303804

Email: hnajm12@yahoo.com

 

web: http://genetics.uswr.ac.ir/

Link in google scholar: 

https://scholar.google.com/citations?user=YVvoh6IAAAAJ

Scopus ID:6701918454

 

 

 

 

Hossein Najmabadi, Ph.D.

Professor of Molecular Genetics

Director of Genetics Research Center

Director of National Reference Laboratory for Prenatal Diagnosis

University of Social Welfare & Rehabilitation Sciences

Tehran-Iran 1985713834

Work: (98 21) 22180138

Fax: (98 21) 22180138

Email:hnajm12@yahoo.com

 

Director of Molecular Division

Kariminejad - Najmabadi Phatology & Genetics Center

1143 Med Bldg. Sanat Sq. Shahrak Gharb

Tehran-Iran 14667

Tel:  (98 21) 88363955 (5 line)

Fax: (98 21) 88083575

P.O. Box: 14665/154

www.irangenepath.com

 

 

 

 

 

• University of Social Welfare & Rehabilitation Sciences, Professor, Head & Director of Genetics Research Center, Tehran, Iran 2006 to Present.
• University of Social Welfare & Rehabilitation Sciences, Associate Professor, Head & Director of Genetics Research Center, Tehran, Iran 2002-2006.
• University of Social Welfare & Rehabilitation Sciences, Assistant Professor, Head & Director of Genetics Research Center, Tehran, Iran 1996 – 2002.
• Charles Drew University of Medicine & Science - UCLA, Assistant Professor of Medicine, Los Angeles, Ca 1995 - 1996.
• Harbor – UCLA Medical Center, Postdoctoral fellow, Torrance, CA, 1990 –1995.
• Ph.D., (Molecular biology, Double minor in Human Genetics & Biochemistry), August 1989, University of North Texas, Denton, Texas
• B.S., ( Medical  technology ), May 1984  University of North Texas, Denton, Texas 
• B.S., ( Biology ), December 1983 University of North Texas, Denton, Texas

 

 

 

American Society of Clinical Pathology (ASCP)

American Society of Human Genetics (ASHG)

Association for Molecular Pathology (AMP)

 

 

 

• Elite Foundation award, for the best scientist 2011 from Elite Foundation of Iran, Ceremony of the Allameh Tabatabaei Festival held on 7th March 2011.
• Annual prize for the best scientist 2012 from the Medical Council of the Academy of Medical Sciences of the Islamic Republic of Iran held on 6th December 2012.

 

 

• Molecular Diagnostic of Single Gene Disorders
• Prenatal Diagnosis
• Gene Isolation, Cloning
• Transcriptional Regulation of Eukaryotic Genes

 

 

 

 

1. Guergueltcheva V, Muller JS, Senderek J, Strom T, Dusl M, Nafisi Sh, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Vilchez JJ,  Muelas N, Abicht A, Lochmuller  H. Pyridostgmine-responsive limb-girdle congenital myasthenic syndrome with tubular aggregates is a distinct clinical entity and links to chromosome 2p15-p15. (Submitted, Brain A J Neurol).

 

2. Pourfarzad F, von Lindern MV, Hou J, Kheradmand-Kia S, Esteghamat F,  Azarkeyvan A, IJcken WV, Philipsen S, Najmabadi H, Grosveld F. Genetic Factors influencing fetal hemoglobin expression and hydroxyurea response in thalassemia. (Submitted)

 

3. Guergueltcheva V, Dusl M, Senderek J, Oldfors A, Lindbergh Ch, Maxwell S, Colomer J, Kimenez Mallebrera C, Nascimento A, Vilchez JJ, Muelas N, ………. Najmabadi H ……., Muller JS. Delineation of the clinical phenotype of congenital delineation associated with GFPT1 mutations. (Submitted)

 

4. Esmaeeli-Nieh S, Porter LM, Motazacker MM, Porter M, Kahrizi K, Behjati F, Tzschach A, Scherthan H, Sayfati M, Najmabadi H,  Blow JJ, Ropers HH, Kuss AW, Swedlow JR. Bod1 is required for the proper stability, localization and function of Plk1 kinase, and its loss causes mental retardation in humans. PLoS Genet. 2016 May 11;12(5):e1006022

 

5. Abedini SS, Azad M, Hasanzad M, Kahrizi K, Najmabadi H. Determination of SMN2 copy numbers in Iranian spinal muscular atrophy patients using multiplex ligation-dependent probe amplification. (Submitted to Arch Iran Med)
6. Abedini SS, Forouzesh Pour F, Karimi K, Ghaderi Z, Farashi S, Tavakoli Koudehi A, Javadi Pirouz H, Mobini Nejad SB, Azarkeivan A, Najmabadi H.Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population.Hemoglobin. 2018 Nov 19:1-5.[Epub ahead of print]
7. InanlooRahatloo K, Peymani F, Kahrizi K, Najmabadi H. Whole Transcriptome Analysis Reveals Dysregulation of Actin-Cytoskeleton Pathway in Intellectual Disability Patients.Neuroscience. 2019 Feb 8. pii: S0306-4522(19)30049-1.[Epub ahead of print]
8. Mehregan H, Mohseni M, Jalalvand K, Arzhangi S, Nikzat N, Banihashemi S, Kahrizi K, Najmabadi H.Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss.Int J Pediatr Otorhinolaryngol. 2019 Feb;117:115-126.
9. Hosseini M, Fattahi Z, Abedini SS, Hu H, Ropers HH, Kalscheuer VM, Najmabadi H, Kahrizi K.GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.Am J Med Genet A. 2019 Jan;179(1):13-19.

 

 

10. Abedini SS, Forouzesh Pour F, Karimi K, Ghaderi Z, Farashi S, Tavakoli Koudehi A, Javadi Pirouz H, Mobini Nejad SB, Azarkeivan A, Najmabadi H. Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population. Hemoglobin. 2018 Nov 19:1-5.
11. Kazeminasab S, Taskiran II, Fattahi Z, Bazazzadegan N, Hosseini M, Rahimi M, Oladnabi M, Haddadi M, Celik A, Ropers HH, Najmabadi H, Kahrizi K. CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability. Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):691-699.
12. Abedini SS, Kahrizi K, de Pouplana LR, Najmabadi H.tRNA Methyltransferase Defects and Intellectual Disability. Arch Iran Med. 2018 Oct 1;21(10):478-485.
13. Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, Mehrjoo Z, Akhtarkhavari T, Ghaderi Z, Rahimi M, Arzhangi S, Jamali P, Falahat Chian M, Nikuei P, Sabbagh Kermani F, Sadeghinia F, Jazayeri R, Tonekaboni SH, Khoshaeen A, Habibi H, Pourfatemi F, Mojahedi F, Khodaie-Ardakani MR, Najafipour R, Wienker TF, Najmabadi H, Ropers HH.Effect of inbreeding on intellectual disability revisited by trio sequencing. Clin Genet. 2019 Jan;95(1):151-159.
14. Avenarius MR, Jung JY, Askew C, Jones SM, Hunker KL, Azaiez H, Rehman AU, Schraders M, Najmabadi H, Kremer H, Smith RJH, Géléoc GSG, Dolan DF, Raphael Y, Kohrman DC.Grxcr2 is required for stereocilia morphogenesis in the cochlea.PLoS One. 2018 Aug 29;13(8):e0201713.
15. Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Jensen C, Bienek M, Poznański J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM.The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.Clin Genet. 2018 Nov;94(5):450-456.
16. Fattahi Z, Sheikh TI, Musante L, Rasheed M, Taskiran II, Harripaul R, Hu H, Kazeminasab S, Alam MR, Hosseini M, Larti F, Ghaderi Z, Celik A, Ayub M, Ansar M, Haddadi M, Wienker TF, Ropers HH, Kahrizi K, Vincent JB, Najmabadi H. Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.Hum Mol Genet. 2018 Sep 15;27(18):3177-3188.
17. Booth KT, Kahrizi K, Najmabadi H, Azaiez H, Smith RJ. Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment. J Med Genet. 2018 Aug;55(8):555-560.
18. Hosseini M, Najmabadi H, Kahrizi K. Calpains: Diverse Functions but Enigmatic.Arch Iran Med. 2018 Apr 1;21(4):170-179.
19. Kazeminasab S, Najmabadi H, Kahrizi K. Intellectual Disability and Ataxia: Genetic Collisions. Arch Iran Med. 2018; 21(1):29-40.

 

20. Nozari A, Aghaei-Moghadam E, Zeinaloo A, Mollazadeh R, Majnoon MT, Alavi A, Ghasemi Firouzabadi S, Mohammadzadeh A, Banihashemi S, Nikzaban M, Najmabadi H, Behjati F. A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family. Gene. 2018; 659:160-167. doi: 10.1016/j.gene.2018.03.044.
21. Mehri M, Zarin M, Ardalani F, Najmabadi H, Azarkeivan A, Neishabury M. Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing. Blood Cells Mol Dis. 2018. pii: S1079-9796(18)30044-5. doi: 10.1016/j.bcmd.2018.02.002.
22. Fadaee M, Mohseni M, Zeinali F, Shokouhi J, Fatahi Z, Najmabadi H, Kahrizi K. The second Iranian family with a known missense mutation in AP4M1, precise clinical characterization conducted to AP4 deficiency syndrome. (Submitted, Iranian Red Crescent Medical Journal)Alavi A, Esmaeili S, Nafissi S, Kahrizi K, Najmabadi H. Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation. Neuromuscul Disord. 2018; 28(4):303-14.
23. Babanejad M, Adeli OA, Nikzat N, Beheshtian M, Azarafra H, Sadeghnia F, Mohseni M, Najmabadi H, Kahrizi K. SLC52A2 mutations cause SCABD2 phenotype: A second report. Int J Pediatr Otorhinolaryngol. 2018; 104:195-9.
24. Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K, Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G, Varaghchi JR, Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH, Najmabadi H. Genetics of intellectual disability in consanguineous families. Mol Psychiatry. 2018. doi: 10.1038/s41380-017-0012-2.
25. Imtiaz A, Belyantseva IA, Beirl AJ, Fenollar-Ferrer C, Bashir R, Bukhari I, Bouzid A, Shaukat U, Azaiez H, Booth KT, Kahrizi K, Najmabadi H, Maqsood A, Wilson EA, Fitzgerald TS, Tlili A, Olszewski R, Lund M, Chaudhry T, Rehman AU, Starost MF, Waryah AM, Hoa M, Dong L, Morell RJ, Smith RJH, Riazuddin S, Masmoudi S, Kindt KS, Naz S, Friedman TB. CDC14A phosphatase is essential for hearing and male fertility in mouse and human. Hum Mol Genet. 2018; 27(5):780-98.
26. Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S; DDD Study, Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Mol Psychiatry. 2018; 23(2):222-30.
27. Michel V, Booth KT, Patni P, Cortese M, Azaiez H, Bahloul A, Kahrizi K, Labbé M, Emptoz A, Lelli A, Dégardin J, Dupont T, Aghaie A, Oficjalska-Pham D, Picaud S, Najmabadi H, Smith RJ, Bowl MR, Brown SD, Avan P, Petit C, El-Amraoui A. CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival. EMBO Mol Med. 2017; 9(12):1711-31.
28. Kariminejad A, Dahl-Halvarsson M, Ravenscroft G, Afroozan F, Keshavarz E, Goullée H, Davis MR, Faraji Zonooz M, NajmabadiH, Laing NG, Tajsharghi H. TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor. Brain. 2017; 140(11):2851-9.
29. Edizadeh M, Vazehan R, Javadi F, Dehdahsi S, Fadaee M, Faraji Zonooz M, Parsimehr E, Ahangari F, Abolhassani A, Kalhor Z, Fattahi Z, Beheshtian M, Kariminejad A, Akbari MR, NajmabadiH, Nafissi S. De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy. Arch Iran Med. 2017; 20(9):617-20.
30. Vermeulen C, Geeven G, de Wit E, Verstegen MJAM, Jansen RPM, van Kranenburg M, de Bruijn E, Pulit SL, Kruisselbrink E, Shahsavari Z, Omrani D, Zeinali F, NajmabadiH, Katsila T, Vrettou C, Patrinos GP, Traeger-Synodinos J, Splinter E, Beekman JM, Kheradmand Kia S, Te Meerman GJ, Ploos van Amstel HK, de Laat W. Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping. Am J Hum Genet. 2017; 101(3):326-39.
31. Ivanova EL, Mau-Them FT, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, de Saint Martin A, Runge K, Iqbal Z, Spitz MA, Laura M, Drouot N, Gérard B, Deleuze JF, de Brouwer APM, Razzaq A, Dollfus H, Assir MZ, Nitchké P, Hinckelmann MV, Ropers H, Riazuddin S, NajmabadiH, van Bokhoven H, Chelly J. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017; 101(3):428-40.
32. Alavi A, Esmaeili S, Nilipour Y, Nafissi S, Tonekaboni SH, Zamani G, Ashrafi MR, Kahrizi K, NajmabadiH, Jazayeri F. LGMD2E is the most common type of sarcoglycanopathies in the Iranian population. J Neurogenet. 2017; 31(3):161-9.
33. Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, NajmabadiH, Minassian BA. ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurol Genet. 2017; 3(3):e148.
34. Musante L, Püttmann L, Kahrizi K, Garshasbi M, Hu H, Stehr H, Lipkowitz B, Otto S, Jensen LR, Tzschach A, Jamali P, Wienker T, NajmabadiH, Ropers HH, Kuss AW. Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Hum Mutat. 2017; 38(6):621-36.
35. Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Rivière JB, Faivre L, Innes AM, Lebel RR, Boycott KM. Autosomal recessive mutations in THOC6 cause intellectual disability: Syndrome delineation requiring forward and reverse phenotyping. Clin Genet. 2017; 91(1):92-9.
36. Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M, Zamani G, Nafissi S, Nilipour Y, Akbari MR, Kahrizi K, Kariminejad A, NajmabadiH. Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. Clin Genet. 2017; 91(3):386-402.
37. Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, NajmabadiH, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S; DDD Study, Cobben JM, Duijkers FA, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Mol Psychiatry. 2016 Aug 23. doi: 10.1038/mp.2016.135. [Epub ahead of print]
38. Firouzabadi SG, Kariminejad R, Vameghi R, Darvish H, Ghaedi H, Banihashemi S, Firouzkouhi Moghaddam M, Jamali P, Mofidi Tehrani HF, Dehghani H, Narooie-Nejad M, Jamshidi J, Tafakhori A, Sadabadi S, Najmabadi H, Behjati F. Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome. Mol Neurobiol. 2017; 54(9):7019-27.

 

39. Farashi S, Rad F, Shahmohammadi B, Imanian H, Azarkeivan A, Najmabadi H. First report of a dominantly inherited β-thalassemia caused by a novel elongated β-globin chain. Hemoglobin. 2016; 40(2):102-7.

 

40. Beheshtian M, Izadi N, Kriegshauser G, Kahrizi K, Mehr EP, Rostami M, Hosseini M, Azad M, Montajabiniat M, Kariminejad A, Nemeth S, Oberkanins C, Najmabadi H. Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. J Genet. 2016; 95(3):667-74.

 

41. Beheshtian M, Babanejad M, Azaiez H, Bazazzadegan N, Kolbe D, Sloan-Heggen C, Arzhangi S, Booth K, Mohseni M, Frees K, Azizi MH, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Najmabadi H. Heterogeneity of hereditary hearing loss in Iran: A comprehensive review. Arch Iran Med. 2016; 19(10):720-8.

 

42. Mohseni M, Razzaghmanesh M, Parsi Mehr E, Zare H, Beheshtian M, Najmabadi H. Novel CFTR mutations in two Iranian families with severe cystic fibrosis. Iran Biomed J. 2016; 20(4):201-6.
43. Babanejad M, Moein H, Akbari MR, Badiei A, Yaseri M, Soheilian M, Najmabadi H. Investigating the CFH gene polymorphisms as a risk factor for age-related macular degeneration in an Iranian population. Ophthalmic Genet. 2016; 37(2):144-9.
44. Mehregan H, Najmabadi H, Kahrizi K. Genetic studies in intellectual disability and behavioral impairment. Arch Iran Med. 2016; 19(5):363-75.
45. Esmaeeli-Nieh S, Fenckova M, Porter IM, Motazacker MM, Nijhof B, Castells-Nobau A, Asztalos Z, Weißmann R, Behjati F, Tzschach A, Felbor U, Scherthan H, Sayfati SM, Ropers HH, Kahrizi K, Najmabadi H, Swedlow JR, Schenck A, Kuss AW. BOD1 is required for cognitive function in humans and drosophila. PLoS Genet. 2016; 12(5):e1006022.

 

46. Esmail Nia G, Fadaee M, Royer R, Najmabadi H, Akbari MR. Profiling Fanconi Anemia Gene Mutations among Iranian Patients. Arch Iran Med. 2016; 19(4):236-40.

 

47. Fadaee M, Kariminejad A, Fattahi Z, Nafissi S, Godarzi HR, Beheshtian M, Vazehan R, Akbari MR, Kahrizi K, Najmabadi H. Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. Neuromuscul Disord. 2016; 26 (4-5):277-82.
48. Faraji Zonooz M, Sabbagh-Kermani F, Fattahi Z, Fadaee M, Akbari MR, Amiri R, Vahidnezhad H, Uitto J, Najmabadi H, Kariminejad A. Whole genome linkage analysis followed by whole exome sequencing identifies Nicastrin (NCSTN) as a causative gene in a multiplex family with γ-secretase spectrum of autoinflammatory skin phenotypes. J Invest Dermatol. 2016; 136(6):1283-6.
49. Farashi S, Rad F, Shahmohammadi B, Imanian H, Azarkeivan A, Najmabadi H. First report of a dominantly inherited β-thalassemia caused by a novel elongated β-globin Chain.  Hemoglobin. 2016; 40(2):102-7.

 

50. Farashi S, Garous NF, Vakili S, Ashki M, Imanian H, Azarkeivan A, Najmabadi H. Characterization of Homozygous Hb Setif (HBA2: c.283G>T) in the Iranian Population. Hemoglobin. 2016; 40(1):53-5.

 

51. Farashi S, Vakili S, Garous NF, Ashki M, Forouzesh Pour F, Zeinali F, Rad F, Imanian H, Azarkeivan A, Najmabadi H. Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene.  Hemoglobin. 2016; 40(1):38-43

 

52. Farashi S, Bayat N, Vakili S, Faramarzi Garous N, Ashki M, Imanian H, Najmabadi H, Azarkeivan A.Point mutations which should not be overlooked in Hb H disease. Expert Rev Hematol. 2016; 9(1):107-13.

 

53. Iqbal Z, Püttmann L, Musante L, Razzaq A, Zahoor MY, Hu H, Wienker TF, Garshasbi M, Fattahi Z, Gilissen C, Vissers LE, de Brouwer AP, Veltman JA, Pfundt R, Najmabadi H, Ropers HH, Riazuddin S, Kahrizi K, van Bokhoven H. Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. Eur J Hum Genet.  2016; 24(3):392-9.
54. Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Redefining the MED13L syndrome. Eur J Hum Genet. 2015; 23(10):1308-17.
55. Beheshtian M, Saee Rad S, Babanejad M, Mohseni M, Hashemi H, Eshghabadi A, Hajizadeh F, Akbari MR, Kahrizi K, Riazi Esfahani M, Najmabadi H. Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. Arch Iran Med. 2015; 18(11):776-85.
56. Larti F, Kahrizi K, Musante L, Hu H, Papari E, Fattahi Z, Bazazzadegan N, Liu Z, Banan M, Garshasbi M, Wienker TF, Ropers HH, Galjart N, Najmabadi H. A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability. Eur J Hum Genet. 2015; 23(3):331-6.
57. Kashef A, Nikzat N, Bazzazadegan N, Fattahi Z, Sabbagh-Kermani F, Taghdiri M, Azadeh B, Mojahedi F, Khoshaeen A, Habibi H, Najmabadi H, Kahrizi K. Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population. Int J Pediatr Otorhinolaryngol. 2015; 79(2):136-8.
58. Farashi S, Garous NF, Ashki M, Vakili S, Zeinali F, Imanian H, Azarkeivan A, Giordano PC, Najmabadi H. Homozygosity for the AATAAA > AATA- - Polyadenylation Site Mutation on the α2-Globin Gene Causing Transfusion-Dependent Hb H Disease in an Iranian Patient: A Case Report. Hemoglobin. 2015; 39(5):355-8.

 

59. Farashi S, Vakili S, Garous NF, Ashki M, Imanian H, Azarkeivan A, Najmabadi H. Mutations on the α2-Globin Gene That May Trigger α(+)-Thalassemia. Hemoglobin. 2015; 39(6):398-402.

 

60. Farashi S, Vakili S, Faramarzi Garous N, Ashki M, Imanian H, Azarkeivan A, Najmabadi H. Copy number variations of six and seven α-globin genes in a family with intermedia and major thalassemia phenotypes. Expert Rev Hematol. 2015; 8(5):693-8.

 

61. Farashi S, Najmabadi H. Diagnostic pitfalls of less well recognized HbH disease. Blood Cells Mol Dis. 2015; 55(4):387-95.

 

62. Farashi S, Faramarzi Garous N, Ashki M, Vakili S, Zeinali F, Imanian H, Azarkeivan A, Najmabadi H. Hb Dartmouth (HBA2: c.200T>C): An α2-globin gene associated with Hb H disease in one homozygous patient. Hemoglobin. 2015;39(3):152-5.

 

     63.Farashi S, Faramarzi Garous N, Zeinali F, Vakili S, Ashki M, Imanian H, Najmabadi H, Azarkeivan A, Tamaddoni A. A 21 nucleotide duplication on the α1- and α2-globin                   genes involves a variety of hypochromic microcytic anemias, from mild to Hb H disease. Hemoglobin.2015; 39(3):196-200.

 

64. Farashi S, Bayat N, Faramarzi Garous N, Ashki M, Montajabi Niat M, Vakili S, Imanian H, Zeinali S, Najmabadi H, Azarkeivan A. Interaction of an α-globin gene triplication with β-globin gene mutations in Iranian patients with β-thalassemia intermedia. Hemoglobin. 2015; 39(3):201-6.

 

65. Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB. Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. Hum Mol Genet. 2015; 24(20):5697-710.
66. Fattahi Z, Kahrizi K, Nafissi S, Fadaee M, Abedini SS, Kariminejad A, Akbari MR, Najmabadi H. Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. Arch Iran Med. 2015; 18(1):60-4.
67. Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ. PDZD7 and hearing loss: More than just a modifier.Am J Med Genet A. 2015; 167A(12):2957-65.

 

68. Mehrjoo Z, Babanejad M, Kahrizi K, Najmabadi H. Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families. J Genet. 2015; 94(3):483-7. 

 

69. Mehrjoo Z, Akbari MR, Abedini SS, Vaziri S, Kahrizi K, Najmabadi H. Carrier testing in known autosomal recessive intellectual disability genes in an Iranian healthy individual using exome sequencing. Arch Iran Med. 2015; 18(10):643-69.

 

70. Jazayeri R, Hu H, Fattahi Z, Musante L, Abedini SS, Hosseini M, Wienker TF, Ropers HH, Najmabadi H, Kahrizi K. Exome sequencing and linkage analysis identified novel candidate genes in recessive intellectual disability associated with ataxia. Arch Iran Med. 2015; 18(10):670-82.

 

71. Akhtarkhavari T, Joghataei MT, Fattahi Z, Akbari MR, Larti F, Najmabadi H, Kahrizi K. Genetic investigation of an Iranian supercentenarian by whole exome sequencing. Arch Iran Med. 2015; 18(10):688-97.

 

72. Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H. Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet. 2015; 52(12):823-9.

 

73. Beheshtian M, Saee Rad S, Babanejad M, Mohseni M, Hashemi H, Eshghabadi A, Hajizadeh F, Akbari MR, Kahrizi K, Riazi Esfahani M, Najmabadi H. Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. Arch Iran Med. 2015; 18(11):776-85.

 

74. Davarniya B, Hu H, Kahrizi K, Musante L, Fattahi Z, Hosseini M, Maqsoud F, Farajollahi R, Wienker TF, Ropers HH, Najmabadi H.The role of a novel TRMT1 gene mutation and rare GRM1 gene defect in intellectual disability in two Azeri families.PLoS One. 2015; 10(8):e0129631.

 

75. Mehrjoo Z, Najmabadi A, Abedini SS, Mohseni M, Kamali K, Najmabadi H, Khorram Khorshid HR. Association study of the TREM2 gene and identification of a novel variant in exon 2 in Iranian patients with late-onset Alzheimer's disease. Med Princ Pract. 2015; 24(4):351-4.

 

76. Rostami P, Valizadegan S, Ghalandary M, Mehrjouy MM, Esmail-Nia G, Khalili S, Shahmoradi SS, Imanian H, Hadavi V, Ghaderi-Sohi S, Almadani N, Afroozan F, Kariminejad A, Kariminejad R, Najmabadi H. Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population. Arch Iran Med. 2015; 18(5):296-303.

 

77. Oladnabi M, Musante L, Larti F, Hu H, Abedini SS, Wienker T, Ropers HH, Kahrizi K, Najmabadi H. New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families. Arch Iran Med. 2015; 18(3):179-84.

 

78. Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H. Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. Am J Hum Genet. 2015; 96(3):386-96.

 

 

79. Zaker-Kandjani B, Namdar-Aligoodarzi P, Azarkeivan A, Najmabadi H, Banan M. Mutation screening of the Krüppel-like factor 1 gene using single-strand conformational polymorphism in a cohort of Iranian β-thalassemia patients. Hemoglobin. 2015; 39(1):24-9.

 

80. Taghizadeh S, Najmabadi H, Kamali K, Behjati F. Evaluation of chromosomal aberrations caused by air pollutants in some taxi drivers from two polluted districts of urban Tehran and its comparison with drivers from rural areas of Lahijan: a pilot study. J Environ Health Sci Eng. 2014; 12(1):144.

 

81. Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ. Utilizingethnic-specificdifferences in minorallelefrequency to recategorizereportedpathogenicdeafnessvariants. Am J Hum Genet. 2014;95(4):445-53.
82. Najmabadi H, Kahrizi K. Genetics of non-syndromic hearing loss in the Middle East. Int J Pediatr Otorhinolaryngol. 2014;78(12):2026-36. Poopak B, Saki N, Purfatholah AA, Najmabadi H, Mortazavi Y, Arzanian MT, Khosravipour G, Haghnejad F, Salari F, Shahjahani M. Pattern of immunoglobulin and T-cell receptor-δ/γ generearrangements in Iranianchildren with B-precursoracutelymphoblasticleukemia. Hematology. 2014;19(5):259-66.
83. Mohseni M, Honarpour A, Mozafari R, Davarnia B, Najmabadi H, Kahrizi K. Identification of a founder mutation for Pendred syndrome in families from northwest Iran. Int J Pediatr Otorhinolaryngol. 2014; 78(11):1828-32.

 

84. Hu H, Wienker TF, Musante L, Kalscheuer VM, Kahrizi K, Najmabadi H, Ropers HH. Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations. Hum Mutat. 2014; 35(12):1427-35.

 

85. Reuter MS, Musante L, Hu H, Diederich S, Sticht H, Ekici AB, Uebe S, Wienker TF, Bartsch O, Zechner U, Oppitz C, Keleman K, Jamra RA, Najmabadi H, Schweiger S, Reis A, Kahrizi K. NDST1 missense mutations in autosomal recessive intellectual disability. Am J Med Genet A. 2014; 164A(11):2753-63.

 

86. Kariminejad A, Bozorgmehr B, Najafi A, Khoshaeen A, Ghalandari M, Najmabadi H, Kariminejad MH, Vanakker OM, Hosen MJ, Malfait F, Quaglino D, Florijn RJ, Bergen AA, Hennekam RC. Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations. J Invest Dermatol. 2014; 134(9):2331-8.

 

87. Loghmani Khouzani H, Kariminejad A, Zamani G, Ghalandary M, Bozorgmehr B, Amirsalari S, Mojahedi F, Tonekaboni SH, Kariminejad R, Najmabadi H. Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population. Arch Iran Med. 2014; 17(7):471-4.

 

88. Jamaldini SH, Babanejad M, Mozaffari R, Nikzat N, Jalalvand K, Badiei A, Sanati H, Shakerian F, Afshari M, Kahrizi K, Najmabadi H.Association of polymorphisms at LDLR locus with coronary artery disease independently from lipid profile.Acta Med Iran. 2014; 52(5):352-9.

 

89. Pazhoomand R, Keyhani E, Banan M, Najmabadi H, Khodadadi F, Iraniparast A, Feiz F, Majidzadeh K, Bahman I, Moghadam FA, Sobhani AM, Muhammadnejad A, Abedini SS, Behjati F. Detection of HER2status in breastcancer: comparison of currentmethods with MLPA and real-timeRT-PCR. Asian Pac J Cancer Prev. 2013;14(12):7621-8.
90. Behjati F, Firouzabadi SG, Kariminejad R, Vameghi R, Sajedi F, Shafaghati Y, Ghasemlou BE, Shojaei A, Jamali P, Bahman I, Najmabadi H. Genomiccharacterization of some Iranianchildren with idiopathicmentalretardation using arraycomparativegenomichybridization. Indian J Hum Genet. 2013;19(4):443-8.

 

91. Behjati F, Ghasemi Firouzabadi S, Sajedi F, Kahrizi K, Najafi M, Ebrahimizade Ghasemlou B, Shafeghati Y, Behnia F, Mohammadi Arya AR, Karimi H, Hadipour F, Hadipour Z, Jamali P, Kariminejad R, Darvish H, Bahman I, Bagherizadeh E, Najmabadi H, Vameghi R. Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation. Iran Red Crescent Med J. 2013; 15(10):e8221.

 

92. Akbariazar E, Ebrahimpour M, Akbari S, Arzhanghi S, Abedini SS, Najmabadi H, Kahrizi K. A novel deletion mutation in ASPM gene in an Iranian family with autosomal recessive primary microcephaly. Iran J Child Neurol. 2013; 7(2):23-30.

 

93. Bayat N, Farashi S, Hafezi-Nejad N, Faramarzi N, Ashki M, Vakili S, Imanian H, Khosravi M, Azar-Keivan A, Najmabadi H. Novel mutations responsible for α-thalassemia in Iranian families. Hemoglobin. 2013; 37(2):148-59.

 

94. Hafezi-Nejad N, Khosravi M, Bayat N, Kariminejad A, Hadavi V, Oberkanins C, Azarkeivan A, Najmabadi H. Characterizing a cohort of α-thalassemia couples collected during screening for hemoglobinopathies: 14 Years of an Iranian Experience. Hemoglobin. 2014; 38(3):153-7.
95. Sahraian S, Babashams M, Reza-Soltani P, Najmabadi H, Kahrizi K, Gorgani SH. Serotonin transporter polymorphism (5-HTTLPR) and citalopram effectiveness in Iranian patients with major depressive disorder. Iran J Psychiatry. 2013; 8(2):86-91.

 

96. Ben Ammar A, Soltanzadeh P, Bauché S, Richard P, Goillot E, Herbst R, Gaudon K, Huzé C, Schaeffer L, Yamanashi Y, Higuchi O, Taly A, Koenig J, Leroy JP, Hentati F, Najmabadi H, Kahrizi K, Ilkhani M, Fardeau M, Eymard B, Hantaï D. A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia. PLoS One. 2013; 8(1):e53826.

 

97. Banan M, Bayat H, Namdar-Aligoodarzi P, Azarkeivan A, Kamali K, Daneshmand P, Zaker-Kandjani B, Najmabadi H. Utility of the multivariate approach In predicting β-thalassemia intermedia or β-thalassemia major types In Iranian patients. Hemoglobin. 2013; 37(5):413-22.

 

98. Neishabury M, Zamani F, Keyhani E, Azarkeivan A, Abedini SS, Eslami MS, Kakroodi ST, Vesiehsari MJ, Najmabadi H. The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 genotypic background. Blood Cells Mol Dis. 2013; 51(2):80-4.

 

99. Bayat N, Farashi S, Hafezi-Nejad N, Faramarzi N, Ashki M, Vakili S, Imanian H, Khosravi M, Azar-Keivan A, Najmabadi H. Novel mutations responsible for α-thalassemia in Iranian families. Hemoglobin. 2013; 37(2):148-59.

 

100. Pourfarzad F, von Lindern M, Azarkeivan A, Hou J, Kia SK, Esteghamat F, van Ijcken W, Philipsen S, Najmabadi H, Grosveld F. Hydroxyurea responsiveness in β-thalassemic patients is determined by the stress response adaptation of erythroid progenitors and their differentiation propensity. Haematologica. 2013; 98(5):696-704. 

 

101. Püttmann L, Stehr H, Garshasbi M, Hu H, Kahrizi K, Lipkowitz B, Jamali P, Tzschach A, Najmabadi H, Ropers HH, Musante L, Kuss AW. A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. Am J Med Genet A. 2013; 161A(8):1915-22.

 

102. Al-Allawi NA, Jalal SD, Rasheed NS, Bayat N, Imanian H, Najmabadi H, Faraj A. The spectrum of α-thalassemia mutations in the Kurdish population of Northeastern Iraq. Hemoglobin. 2013; 37(1):56-64.
103. Zeinali F, Mohseni M, Fadaee M, Fattahi Z, Najmabadi H, Otukesh H, Kahrizi K. Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families. J Laryngol Otol. 2014; 128(12):1056-9.
104. Kahrizi K, Bazazzadegan N, Jamali L, Nikzat N, Kashef A, Najmabadi H. A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II. J Genet. 2014; 93(3):837-41.
105. Fattahi Z, Rostami P, Najmabadi A, Mohseni M, Kahrizi K, Akbari MR, Kariminejad A, Najmabadi H. Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of eight novel mutations in five BBS gene. J Hum Genet. 2014; 59(7):368-75.
106. Behzad Davarnia, Mojgan Babanejad, Nooshin Nikzat, Zohreh Fattahi, Niloofar Bazazzadegan,        Atie Kashef,  Reza Farajollahi, Akbar Pirzadeh, Hossein Najmabadi, Kimia Kahrizi. Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss. Int J Pediatr Otorhinolaryngol. 76(2):268-71.

 

107. Optimizing A Lipocomplex-Based Gene Transfer Method into HeLa Cell Line. Asgharian A, Banan M, Najmabadi H. Optimizing a lipocomplex-based gene transfer method into HeLa cell line. Cell J. 2014; 15(4):372-7.

 

108. Khatami S, Najmabadi H, Rouhi S, Mirzazadeh R, Bayat P, Sadeghi S. Preliminary identification of hemoglobin q-iran in an Iranian family from central province of Iran by globin chain analysis on HPLC. Arch Iran Med. 2013; 16(12):739-40.

 

109. Banan M, Bayat H, Namdar-Aligoodarzi P, Azarkeivan A, Kamali K, Daneshmand P, Zaker-Kandjani B, Najmabadi H. Utility of the multivariate approach In predicting β-thalassemia intermedia or β-thalassemia major types In Iranian patients. Hemoglobin. 2013; 37(5):413-22.

 

110. Pourfarzad F, von Lindern M, Azarkeivan A, Hou J, Kia SK, Esteghamat F, van Ijcken W, Philipsen S, Najmabadi H, Grosveld F. Hydroxyurea responsiveness in β-thalassemic patients is determined by the stress response adaptation of erythroid progenitors and their differentiation propensity. Haematologica. 2013; 98(5):696-704.

 

111. Sahraian S, Babashams M, Reza-Soltani P, Najmabadi H, Kahrizi K, Gorgani SH. Serotonin Transporter Polymorphism (5-HTTLPR) and Citalopram Effectiveness in Iranian Patients with Major Depressive Disorder. Iran J Psychiatry. 2013; 8(2):86-91.

 

112. Jazayeri R, Qoreishi M, Hoseinzadeh HR, Babanejad M, Bakhshi E, Najmabadi H, Jazayeri SM. Investigation of the asporin gene polymorphism as a risk factor for knee osteoarthritis in Iran. Am J Orthop (Belle Mead NJ). 2013; 42(7):313-6.

 

113. Ben Ammar A, Soltanzadeh P, Bauché S, Richard P, Goillot E, Herbst R, Gaudon K, Huzé C, Schaeffer L, Yamanashi Y, Higuchi O, Taly A, Koenig J, Leroy JP, Hentati F, Najmabadi H, Kahrizi K, Ilkhani M, Fardeau M, Eymard B, Hantaï D. A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia. PLoS One. 2013; 8(1):e53826.

 

114. Bayat N, Farashi S, Hafezi-Nejad N, Faramarzi N, Ashki M, Vakili S, Imanian H, Khosravi M, Azar-Keivan A, Najmabadi H. Novel mutations responsible for α-thalassemia in Iranian families. Hemoglobin. 2013; 37(2):148-59.

 

115. Pourfarzad F, von Lindern M, Azarkeivan A, Hou J, Kia SK, Esteghamat F, van Ijcken W, Philipsen S, Najmabadi H, Grosveld F. Hydroxyurea responsiveness in β-thalassemic patients is determined by the stress response adaptation of erythroid progenitors and their differentiation propensity. Haematologica. 2013; 98(5):696-704. 

 

116. Neishabury M, Zamani F, Keyhani E, Azarkeivan A, Abedini SS, Eslami MS, Kakroodi ST, Vesiehsari MJ, Najmabadi H. The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 genotypic background. Blood Cells Mol Dis. 2013; 51(2):80-4.

 

117. Püttmann L, Stehr H, Garshasbi M, Hu H, Kahrizi K, Lipkowitz B, Jamali P, Tzschach A, Najmabadi H, Ropers HH, Musante L, Kuss AW. A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. Am J Med Genet A. 2013; 161(8):1915-22.

 

118. Al-Allawi NA, Jalal SD, Rasheed NS, Bayat N, Imanian H, Najmabadi H, Faraj A. The spectrum of α-thalassemia mutations in the Kurdish population of Northeastern Iraq. Hemoglobin. 2013; 37(1):56-64.

 

119. Fattahi Z, Najmabadi H. Prevalence of ACTN3 (the athlete gene) R577X polymorphism in Iranian population. Iran Red Crescent Med J. 2012; 14(10):617-22.

 

120. Banan M, Esmaeilzadeh-Gharehdaghi E, Nezami M, Deilami Z, Farashi S, Philipsen S, Esteghamat F, Pourfarzad F, Ali Imam AM, Najmabadi H. cAMP response element-binding protein 1 is required for hydroxyurea-mediated induction of γ-globin expression in K562 cells. Clin Exp Pharmacol Physiol. 2012; 39(6):510-7.

 

121. Soltani Banavandi MJ, Kahrizi K, Behjati F, Mohseni M, Darvish H, Bahman I, Abedinni SS, Ghasemi Firouzabadi S, Jafari E, Ghadami Sh, Sabbagh F, Kavoosi GR, Najmabadi H. Investigation of genetic causes of intellectual disability in Kerman province, South East of Iran. Iran Red Crescent Med J. 2012; 14(2):79-85.

 

122. Papari E, Bastami M, Farhadi A, Abedini SS, Hosseini M, Bahman I, Mohseni M, Garshasbi M, Moheb LA, Behjati F, Kahrizi K, Ropers HH, Najmabadi H. Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations. Clin Genet. 2013; 83(5):488-90.
123. Hosseini MM, Tonekaboni SH, Papari E, Bahman I, Behjati F, Kahrizi K, Najmabadi H. A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly. J Pak Med Assoc. 2012; 62(11):1244-7.
124. Babanejad M, Fattahi Z, Bazazzadegan N, Nishimura C, Meyer N, Nikzat N, Sohrabi E, Najmabadi A, Jamali P, Habibi F, Smith RJ, Kahrizi K, Najmabadi H. A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran. Am J Med Genet A. 2012; 158A(10):2485-92.
125. Botla SK, Gholami AM, Malekpour M, Moskalev EA, Fallah M, Jandaghi P, Aghajani A, Bondar IS, Omranipour R, Malekpour F, Mohajeri A, Babadi AJ, Sahin Ö, Bubnov VV, Najmabadi H, Hoheisel JD, Riazalhosseini Y. Diagnostic values of GHSR DNA methylation pattern in breast cancer. Breast Cancer Res Treat. 2012; 135(3):705-13.
126. Zamani F, Bagheri Z, Bayat M, Fereshtehnejad SM, Basi A, Najmabadi H, Ajdarkosh H. Iranian hereditary hemochromatosis patients: Baseline characteristics, laboratory data and gene mutations. Med Sci Monit. 2012; 18(10):CR622-629.
127. Davarnia B, Babanejad M, Fattahi Z, Nikzat N, Bazazzadegan N, Pirzade A, Farajollahi R, Nishimura C, Jalalvand K, Arzhangi S, Kahrizi K, Smith RJ, Najmabadi H. Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss. Int J Pediatr Otorhinolaryngol. 2012; 76(2):268-71.
128. Banan M, Bayat H, Azarkeivan A, Mohammadparast S, Kamali K, Farashi S, Bayat N, Khani MH, Neishabury M, Najmabadi H. The XmnI and BCL11A single nucleotide polymorphisms may help predict hydroxyurea response in Iranian β-thalassemia patients. Hemoglobin. 2012; 36(4):371-80.
129. Fattahi Z, Shearer AE, Babanejad M, Bazazzadegan N, Almadani SN, Nikzat N, Jalalvand K, Arzhangi S, Esteghamat F, Abtahi R, Azadeh B, Smith RJ, Kahrizi K, Najmabadi H. Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. Am J Med Genet A. 2012; 158A(8):1857-64.
130. Mahdavi MR, Bayat N, Hadavi V, Karami H, Roshan P, Najmabadi H, Rohanizadeh H. Report of haemoglobin J-Toronto and alpha thalassemia in a family from North of Iran. J Pak Med Assoc. 2012; 62(4):396-8.
131. Abedini SS, Kahrizi K, Behjati F, Banihashemi S, Ghasemi Firoozabadi S, Najmabadi H. Mutational Screening of ARX Gene in Iranian Families with X-linked Intellectual Disability. Arch Iran Med. 2012; 15(6):361-5.
132. Soltani Banavandi MJ, Kahrizi K, Behjati F, Mohseni M, Darvish H, Bahman I, Abedinni SS, Ghasemi Firouzabadi S, Jafari E, Ghadami Sh, Sabbagh F, Kavoosi GR, Najmabadi H. Investigation of genetic causes of intellectual disability in Kerman province, South East of Iran. Iran Red Crescent Med J. 2012; 14(2):79-85.

 

133. Heidari A, Nariman Saleh Fam Z, Esmaeilzadeh-Gharehdaghi E, Banan M, Hosseinkhani S, Mohammadparast S, Oladnabi M, Ebrahimpour MR, Soosanabadi M, Farokhashtiani T, Darvish H, Firouzabadi SG, Farashi S, Najmabadi H, Ohadi M. Core promoter STRs: Novel mechanism for inter-individual variation in gene expression in humans. Gene. 2012; 492(1):195-8.

 

134. Neishabury M, Zamani S, Azarkeivan A, Abedini SS, Darvish H, Zamani F, Najmabadi H. The modifying effect of Xmn1-HBG2 on thalassemic phenotype is associated with its linked elements in the beta globin locus control region, including the palindromic site at 5'HS4. Blood Cells Mol Dis. 2012; 48(1):1-5.

 

135. Bazazzadegan N, Nikzat N, Fattahi Z, Nishimura C, Meyer N, Sahraian S, Jamali P, Babanejad M, Kashef A, Yazdan H, Sabbagh Kermani F, Taghdiri M, Azadeh B, Mojahedi F, Khoshaeen A, Habibi H, Reyhanifar F, Nouri N, Smith RJ, Kahrizi K, Najmabadi H. The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss-A twelve year study. Int J Pediatr Otorhinolaryngol. 2012; 76(8):1164-74.

 

136. Banan M, Bayat H, Azarkeivan A, Mohammadparast S, Kamali K, Farashi S, Bayat N, Khani MH, Neishabury M, Najmabadi H. The XmnI and BCL11A single nucleotide polymorphisms may help predict hydroxyurea response in Iranian β-Thalassemia patients. Hemoglobin. 2012; 36(4):371-80.

 

137. Abedini SS, Kahrizi K, Behjati F, Banihashemi S, Ghasemi Firoozabadi S, Najmabadi H.Mutational screening of ARX gene in Iranian families with X-linked intellectual disability. Arch Iran Med. 2012; 15 (6):361-5.

 

138. French VM, van de Laar IM, Wessels MW, Rohe C, Roos-Hesselink JW, Wang G, Frohn-Mulder IM, Severijnen LA, de Graaf BM, Schot R, Breedveld G, Mientjes E, van Tienhoven M, Jadot E, Jiang Z, Verkerk A, Swagemakers S, Venselaar H, Rahimi Z, Najmabadi H, Meijers-Heijboer H, de Graaff E, Helbing WA, Willemsen R, Devriendt K, Belmont JW, Oostra BA, Amack JD, Bertoli-Avella AM. NPHP4 variants are associated with pleiotropic heart malformations. Circ Res. 2012; 110(12):1564-74.

 

139. Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D, Motazacker MM, Esmaeeli-Nieh S, Cremer K, Weißmann R, Tzschach A, Garshasbi M, Abedini SS, Najmabadi H, Ropers HH, Sigrist SJ, Kuss AW. Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet. 2012; 90(5):847-55.

 

140. Banan M, Esmaeilzadeh-Gharehdaghi E, Nezami M, Deilami Z, Farashi S, Philipsen S, Esteghamat F, Pourfarzad F, Ali Imam AM, Najmabadi H. CREB1 is required for hydroxyurea-mediated induction of γ-globin expression in K562 cells. Clin Exp Pharmacol Physiol. 2012;  39(6):510-7. 

 

141. Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol. 2012; 259(5):838-50.

 

142. Yazdanpanahi N, Chaleshtori MH, Tabatabaiefar MA, Noormohammadi Z, Farrokhi E, Najmabadi H, Shahbazi S, Hosseinipour A. Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss. Int J Pediatr Otorhinolaryngol. 2012; 76(6):845-50.

 

143. Khorshidi M, Roshan P, Bayat N, Mahdavi MR, Najmabadi H. Hemoglobin Q-Iran detected in family members from Northern Iran: a case report. J Med Case Rep. 2012; 6(1):47.

 

144. Davarnia B, Babanejad M, Fattahi Z, Nikzat N, Bazazzadegan N, Pirzade A, Farajollahi R, Nishimura C, Jalalvand K, Arzhangi S, Kahrizi K, Smith RJ, Najmabadi H. Int J Pediatr Otorhinolaryngol. 2012; 76(2):268-71.

 

145. Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2011; 89(1):176-82.

 

146. Nourouzi V, Azizi H, Esteghamat F, Bazazzadegan N, Fattahi Z, Babanejad M, Nishimura C,Nikzat N, Jalalvand Kh, Kahrizi K, Smith RJH, Najmabadi H. Did the GJB2 35delG mutation originates in Iran? Am J Med Genet A. 2011; 155A(10):2453-8.

 

147. Behjati F, Ghasemi Firouzabadi S, Kahrizi K, Kariminejad R, Bagherizadeh I, Ansari J, Fallah M, Mojtahedi F, Darvish H, Bahrami Monajemi G, Abedini SS, Jamali P, Mojahedi F, Zadeh-Vakili A, Najmabadi H. Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages. Arch Med Sci. 2011; 7(2):321-5.

 

148. Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011; 478(7367):57-63.

 

149. Pak C, Garshasbi M, Kahrizi K, Gross C, Apponi LH, Noto JJ, Kelly SM, Leung SW, Tzschach A, Behjati F, Abedini SS, Mohseni M, Jensen LR, Hu H, Huang B, Stahley SN, Liu G, Williams KR, Burdick S, Feng Y, Sanyal S, Bassell GJ, Ropers HH, Najmabadi H, Corbett AH, Moberg KH, Kuss AW. Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proc Natl Acad Sci U S A. 2011; 108(30):12390-5.

 

150. Esmaeilzadeh-Gharehdaghi E, Banan M, Farashi S, Mirabzadeh A, Farokhashtiani T, Hosseinkhani S, Heidari A, Najmabadi H, Ohadi M. Support for down-tuning of the calreticulin gene in the process of human evolution. Prog Neuropsychopharmacol Biol Psychiatry. 2011; 35(7):1770-3.

 

151. Heidari A, Behmanesh M, Sahraian MA, Meshkani R, Darvish H, Najmabadi H, Ohadi M. The human caveolin 1 gene upstream purine complex and neurodegeneration--a common signature. J Neuroimmunol. 2011; 236(1-2):106-10.

 

152. Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet. 2011; 88(2):162-72.

 

153. Daneshi A, Hassanzadeh S, Emamdjomeh H, Mohammadi SH, Arzhangi S, Farhadi M, Najmabadi H. Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran. J Laryngol Otol. 2011; 125(5):455-9.

 

154. Neishabury M, Azarkeivan A, Oberkanins C, Abedini SS, Zamani S, Najmabadi H. Analyzing 5'HS3 and 5'HS4 LCR core regions and NF-E2 in Iranian thalassemia intermedia patients with normal or carrier status for beta-globin mutations. Blood Cells Mol Dis. 2011; 46(3):201-5.

 

155. Darvish H, Nabi MO, Firouzabadi SG, Karimlou M, Heidari A, Najmabadi H, Ohadi M. Exceptional human core promoter nucleotide compositions. Gene. 2011; 475(2):79-86.

 

156. Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet. 2011; 88(2):127-37. 
157. Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Mühlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW. ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet. 2011; 89(3):407-14.
158. Bazazzadegan N, Sheffield AM, Sobhani M, Kahrizi K, Meyer NC, Van Camp G, Hilgert N, Abedini SS, Habibi F, Daneshi A, Nishimura C, Avenarius MR, Farhadi M, Smith RJ, Najmabadi H. Two iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. Am J Med Genet A. 2011; 155A(5):1202-11.

 

159. Schneider SA, Ramirez A, Shafiee K, Kaiser FJ, Erogullari A, Brüggemann N, Winkler S, Bahman I, Osmanovic A, Shafa MA, Bhatia KP, Najmabadi H, Klein C, Lohmann K. Homozygous THAP1 mutations as cause of early-onset generalized dystonia. Mov Disord. 2011; 26(5):858-61.
160. Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet. 2011; 88(2):127-37.
161. Smith KR, Bromhead CJ, Hildebrand MS, Shearer AE, Lockhart PJ, Najmabadi H, Leventer RJ, McGillivray G, Amor DJ, Smith RJ, Bahlo M. Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes.  Genome Biol. 2011; 12(9):R85.
162. Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2011; 89(1):176-82.
163. Garshasbi M, Kahrizi K, Hosseini M, Nouri Vahid L, Falah M, Hemmati S, Hu H, Tzschach A, Ropers HH, Najmabadi H, Kuss AW. A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. Am J Med Genet A. 2011; 155A(8):1976-80.
164. Kahrizi K, Hu CH, Garshasbi M, Abedini SS, Ghadami S, Kariminejad R, Ullmann R, Chen W, Ropers HH, Kuss AW, Najmabadi H, Tzschach A. Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet. 2011; 19(1):115-7.
165. Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H. Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet. 2011; 129(2):141-8.

 

166. Ebrahimkhani S, Azarkeivan A, Bayat N, Houry-Parvin M, Jalil-Nejad S, Zand S, Golkar Z, Hadavi V, Imanian H, Oberkanins C, Najmabadi H. Genotype-phenotype correlation in Iranian patients with hemoglobin H disease. Hemoglobin. 2011; 35(1):40-6.

 

167. Farokhashtiani T, Mirabzadeh A, Olad Nabi M, Magham ZG, Khorshid HR, Najmabadi H, Ohadi M. Reversion of the human calreticulin gene promoter to the ancestral type as a result of a novel psychosis-associated mutation.  Prog Neuropsychopharmacol Biol Psychiatry. 2011; 35(2):541-4.

 

168. Hildebrand MS, Kahrizi K, Bromhead CJ, Shearer AE, Webster JA, Khodaei H, Abtahi R, Bazazzadegan N, Babanejad M, Nikzat N, Kimberling WJ, Stephan D, Huygen PL, Bahlo M, Smith RJ, Najmabadi H. Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population. Ann Otol Rhinol Laryngol. 2010; 119(12):830-5.

 

169. de Souza Rocha Simonini P, Breiling A, Gupta N, Malekpour M, Youns M, Omranipour R, Malekpour F, Volinia S, Croce CM, Najmabadi H, Diederichs S, Sahin O, Mayer D, Lyko F, Hoheisel JD, Riazalhosseini Y. Epigenetically deregulated microRNA-375 is involved in a positive feedback loop with estrogen receptor alpha in breast cancer cells. Cancer Res. 2010; 70(22):9175-84.

 

170. Bidari A, Ghavidel-Parsa B, Najmabadi H, Talachian E, Haghighat-Shoar M, Broumand B, Ghalehbaghi B.Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance. Mod Rheumatol. 2010; 20(6):566-72.

 

171. de Souza Rocha Simonini P, Breiling A, Gupta N, Malekpour M, Youns M, Omranipour R, Malekpour F, Volinia S, Croce CM, Najmabadi H, Diederichs S, Sahin O, Mayer D, Lyko F, Hoheisel JD, Riazalhosseini Y.  Epigentically deregulated microRNA-375 is involved in a positive feedback loop with Estrogen Receptor α in breast cancer cells. Cancer Res. 2010; 70(22):9175-84. 

 

172. Yang T, Kahrizi K, Bazazzadeghan N, Meyer N, Najmabadi H, Smith RJ. A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus. Clin Genet. 2010; 77(4):395-8.

 

173. Shafeghati Y, Kahrizi K, Najmabadi H, Kuss AW, Ropers HH, Tzschach A. Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature. Eur J Pediatr. 2010; 169(12):1535-9.

 

174. Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I, Jamali P, Azimi S, Mojahedi F, Dehghan A, Shafeghati Y, Jankhah A, Falah M, Soltani Banavandi MJ, Ghani-Kakhi M, Garshasbi M, Rakhshani F, Naghavi A, Tzschach A, Neitzel H, Ropers HH, Kuss AW, Behjati F, Kahrizi K, Najmabadi H. A Clinical and Molecular Genetic study of 112 Iranian families with primary microcephaly. J Med Genet. 2010; 47(12):823-8.
175. Azarkeivan A, Neishabury M, Hadavi V, Esteghamat F, Enrahimkhani S, Najmabadi H. A report of 8 cases with hemoglobin H disease in an Iranian family. Pediatr Hematol Oncol. 2010; 27(5):405-12.
176. Jalal SD, Al-Allawi NAS, Najmabadi H, Bayat N, Imanian H, Faraj A. β-thalassemia mutation in the Kurdish population of Northeastern Iraq. J Hemoglobin. 2010; 34(5): 469-76.

 

177. Hildebrand MS, Witmer PD, Xu S, Newton SS, Kahrizi K, Najmabadi H, Valle D, Smith RJ. miRNA mutations are not a common cause of deafness. Am J Med Genet A. 2010; 152A(3):646-52.
178. Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJ, Kohrman DC. Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. Am J Hum Genet. 2010; 86(2):148-60.

 

179. Zarif Yeganeh M, Mirabzadeh A, Khorram Khorshid HR, Kamali K, Heshmati Y, Gozalpour E, Veissy K, Olad Nabi M, Najmabadi H, Ohadi M. Novel extreme homozygote haplotypes at the human caveolin 1 gene upstream purine complex in sporadic Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet. 2010; 153B(1):347-9.

 

180. Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo M, Smith RJ. Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. Clin Genet. 2010; 77(6):563-71.

 

181. Hildebrand MS, Avenarius MR, Fellous M, Zhang Y, Meyer NC, Auer J, Serres C, Kahrizi K, Najmabadi H, Beckmann JS, Smith RJ. Genetic male infertility and mutation of CATSPER ion channels. Eur J Hum Genet. 2010; 18(11):1178-84.

 

182. Nabi MO, Mirabzadeh A, Feizzadeh G, Khorshid HR, Karimlou M, Yeganeh MZ, Asgharian AM, Najmabadi H, Ohadi M. Novel mutations in the calreticulin gene core promoter and coding sequence in schizoaffective disorder. Am J Med Genet B Neuropsychiatr Genet. 2010; 153B(2):706-9.

 

183. Neishabury M, Azarkeivan A, Najmabadi H. Frequency of positive XmnIGgamma polymorphism and coinheritance of common alpha thalassemia mutations do not show statistically significant difference between thalassemia major and intermedia cases with homozygous IVSII-1 mutation. Blood Cells Mol Dis. 2010; 44(2):95-9.
184. Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, Azimian M, Refah AA, Also E, Urtizberea JA, Tizzano EF, Najmabadi H. Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population. Eur J Neurol. 2010; 17(1):160-2.

 

185. Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am J Hum Genet. 2009; 85(6):909-15.

 

186. Zarif Yeganeh M, Ghaffarpour M, Farhud DD, Karimlou M, Ghabaee M, Haghighi Nazari A, Najmabadi H, Ohadi M. Skew in the human caveolin 1 gene upstream purine complex homozygote haplotype compartment in multiple sclerosis. J Neuroimmunol. 2009; 216(1-2):103-7.
187. Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Müller U. Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. Am J Hum Genet. 2009; 85(3):328-37.

 

188. Hadavi V, Jafroodi M, Hafezi-Nejad N, Moghadam SD, Eskandari F, Tarashohi S, Pourfahim H, Oberkanins C, Law HY, Najmabadi H. Alpha-thalassemia mutations in Gilan Province, North Iran. Hemoglobin. 2009; 33(3):235-41.

 

189. Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ. Human male infertility caused by mutations in the CATSPER1 channel protein. Am J Hum Genet. 2009; 84(4):505-10.

 

190. Tamaddoni A, Hadavi V, Nejad NH, Khosh-Ain A, Siami R, Aghai-Meibodi J, Almadani N, Oberkanins C, Law HY, Najmabadi H. alpha-Thalassemia mutation analyses in Mazandaran province, North Iran. Hemoglobin. 2009; 33(2):115-23.

 

191. Pouya AR, Abedini SS, Mansoorian N, Behjati F, Nikzat N, Mohseni M, Nieh SE, Abbasi L, Darvish H, Monajemi GB, Banihashemi S, Kahrizi K, Ropers HH, Najmabadi H. Fragile X Syndrome Screening of Families with Consanguineous and Non-consanguineous Parents in the Iranian Population. Eur J Med Genet. 2009; 52(4):170-3.

 

192. Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, Arzhanginy S, Kimberling WJ, Stephan D, Bahlo M, Smith RJ, Najmabadi H. Mutations in the first MyTH4 domain of MYO15A are common cause of DFNB3 hearing loss. Laryngoscope. 2009; 119(4):727-33.

 

193. Hasanzad M, Golkar Z, Kariminejad R, Hadavi V, Almadani N, Afroozan F, Salahshurifar I, Shafeghati Y, Kahrizi K, Najmabadi H. Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy. Ann Acad Med Singapore. 2009; 38(2):139-41.

 

194. Shearer AE, Hildebrand MS, Bromhead CJ, Kahrizi K, Webster JA, Azadeh B, Kimberling WJ,
     1. Anousheh A, Nazeri A, Stephan D, Najmabadi H, Smith RJ, Bahlo M. A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. Am J Med Genet A. 2009; 149A(3):555-8.

 

195. Al-Allawi NA, Badi AI, Imanian H, Nikzat N, Jubrael JM, Najmabadi H. Molecular characterization of alpha-thalassemia in the Dohuk region of Iraq. Hemoglobin. 2009; 33(1):37-44.

 

196. Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H,
     1. Walter Kuss A, Kress W, Laureys G, Loeys B, Brilstra E, Mancini GM, Dollfus H, Dahan K, Apse K, Christian Hennies H, Horn D. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Hum Mutat. 2009; 30(2):E404-20.

 

197. Kahrizi K, Najmabadi H, Kariminejad R, Jamali P, Malekpour M, Garshasbi M, Ropers HH, Kuss
     1. AW, Tzschach A An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. Eur J Hum Genet. 2009; 17(1):125-8.

 

198. Kahrizi K, Mohseni M, Nishimura C, Bazazzadegan N, Fischer SM, Dehghani A, Sayfati M, Taghdiri M, Jamali P, Smith RJ, Azizi F, Najmabadi H. Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. Eur J Pediatr. 2009; 168(6):651-3.
199. Heshmati Y, Mirabzadeh A, Feizzade G, Gilanipour M, Etminan MR, Khoram Khorshid HR, Kamali K, Fakhri M, Moghimi N, Najmabadi H, Ohadi M. A novel polymorphic purine complex at the 1.5 kb upstream region of the human caveolin-1 gene and risk of Alzheimer's disease; Extra-short alleles and accumulated allele homozygosity. Am J Med Genet B Neuropsychiatr Genet. 2009; 150B(2):248-53.
200. Hilgert N, Kahrizi K, Dieltjens N, Bazazzadegan N, Najmabadi H, Smith RJ, Van Camp G. A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. J Med Genet. 2009; 46(4):272-6.

 

201. Shearer AE, Hildebrand MS, Bromhead CJ, Kahrizi K, Webster JA, Azadeh B, Kimberling WJ, Anousheh A, Nazeri A, Stephan D, Najmabadi H, Smith RJ, Bahlo M. A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. Am J Med Genet A. 2009; 149A(3):555-8.

 

202. Turkmen S, Guo G, Garshasbi M, Hoffmann K, Kahrizi K, Shallah AA, Kuss A, Ropers H, Humphrey N, Najmabadi H, Mundlos S, Robinson P. Mutation of CA8 cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. Accepted PLOS genetics, 2009.

 

203. Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. BMJ Case Rep. 2009; bcr08.2008.0645.

 

204. Hasanzad M, Golkar Z, Hadavi V, Kariminejad R, Almadani N, Afroozan F, Salahshurifar I, Shafeghati Y, Kahrizi  K, Najmabadi H. Survival Motor Neuron Gene Deletions among Iranian Spinal Muscular Atrophy.  Ann Acad Med Singapore. 2009; 38(2):139-41.
205. Neishabury M, Azarkeivan A, Oberkanins C, Esteghamat F, Amirizadeh N, Najmabadi H.
206. Molecular mechanisms underlying thalassemia intermedia in Iran. Genet Test. 2008; 12(4):549-56.

 

207. Du X, Schwander M, Moresco EM, Viviani P, Haller C, Hildebrand MS, Pak K, Tarantino L,
     1. Roberts A, Richardson H, Koob G, Najmabadi H, Ryan AF, Smith RJ, Müller U, Beutler B. A catechol-O-methyltransferase that is essential for auditory function in mice and humans. Proc Natl Acad Sci U S A. 2008; 105(38):14609-14.

 

208. Zandian K, Nateghi J, Keikhaie B, Pedram M, Hafezi-Nejad N, Hadavi V, Oberkanins C, Azarkeivan A, Law HY, Najmabadi H. Alpha-thalassemia Mutations in Khuzestan Province, southwest Iran. Hemoglobin. 2008; 32(6):546-52.
209. Nikuei P, Hadavi V, Rajaei M, Saberi M, Hajizade F, Najmabadi H. Prenatal Diagnosis for-beta-thalassemia Major in the Iranian Province of Hormozgan. Hemoglobin 2008; 32(6):539-45.
210. Behjati F, Shafeghati Y, Kahrizi K, Firouzabadi SG, Najmabadi H, Dixon N, Davies AF. Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation. Am J Med Genet A. 2008; 146A(24):3223-6.

 

211. Khatami Sh, Rouhi Dehboneh S, Sadeghi S, Saeidi P, Mirzazadeh R, Bayat P, Amirkhani A, Samavat A,  Zeinali S, Akbari MT, Najmabadi H. Globin chain synthesis for differential diagnosis of β-thalassemia from α-thalassemia carriers. Blood 2008; 4(4):239-46.

 

212. Nunes A, Ohadi M, Rahimi A, Aghajani A, Najmabadi H, Currais A, Soriano S. A mutation in the calreticulin gene promoter in a family case of schizoaffective disorder leads to its aberrant transcriptional activation. Brain Res. 2008; 1239:36-41.
213. Du X, Schwander M, Moresco EM, Viviani P, Haller C, Hildebrand MS, Pak K, Tarantino L, Roberts A, Richardson H, Koob G, Najmabadi H, Ryan AF, Smith RJ, Müller U, Beutler B. A catechol-O-methyltransferase that is essential for auditory function in mice and humans. Proc Natl Acad Sci U S A 2008; 105(38):14609-14.

 

214. Naghavi A, Nishimura C, Kahrizi K, Riazalhosseini Y, Bazazzadegan N, Mohseni M, Smith RJ, Najmabadi H. GJB2 mutations in Baluchi population. J Genet. 2008; 87(2):195-7.

 

215. Behjati F, Shafaghati Y, Firouzabadi SG, Kahrizi K, Bagherizadeh I, Najmabadi H, Bint S, Ogilvie C. M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism. Eur J Med Genet. 2008; 51(6):608-14.

 

216. Tzschach A, Bozorgmehr B, Hadavi V, Kahrizi K, Garshasbi M, Motazacker MM, Ropers HH, Kuss AW, Najmabadi H. Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients. Br J Dermatol. 2008; 159(3):748-51.

 

217. Shojasaffar B, Moradin N, Kahrizi K, Cobo AM, Najmabadi H. CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population. Can J Neurol Sci. 2008; 35(2):216-9.

 

218. Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW. A Defect in the TUSC3 Gene is Associated with Autosomal Recessive Mental Retardation. Am J Hum Genet. 2008; 82(5):1158-64.

 

219. Banoei MM, Majidizadeh T, Shirazi E, Moghimi N, Ghadiri M, Najmabadi H, Ohadi M. No
220. association between the DAT1 10-repeat allele and ADHD in the Iranian population. Am J Med Genet B Neuropsychiatr Genet. 2008; 147(1):110-1.

 

 

221. Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW. Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet. 2008; 16(2):270-3.

 

222. Ohadi M, Keikhaee MR, Javanbakht A, Sargolzaee MR, Robabeh M, Najmabadi H. Gender dimorphism in the DAT1 -67 T-allele homozygosity and predisposition to bipolar disorder. Brain Res. 2007; 1144:142-5.

 

223. Esteghamat F, Imanian H, Azarkeivan A,  Banan M, Pourfarzad F, Almadani N, Najmabadi H. Iranian δβ-Thalassemia Patients for the eight most deletions. Hemoglobin. 2007; 31(4):463-9.

 

224. Salahshourifar I, Shafeghati Y, Golkar Z, Najmabadi H. Molecular analysis of the neuronal apoptosis inhibitory protein gene in families with spinal muscular atrophy. Arch Iran Med. 2007; 10(4):509-13.

 

225. Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H,Kuss AW. A Defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet. 2007; 81(4):792-8.

 

226. Khatami S, Dehboneh SR, Sadeghi S, Mirzazadeh R, Saeedi P, Bayat P, Najmabadi H, Zeinali S, Akbari MT, Ardjmand M, Amirkhani A. Globin Chain Synthesis is a Useful Complementary Tool in the Differential Diagnosis of Thalassemias. Hemoglobin. 2007; 31(3):333-41.

 

227. Hadavi V, Taromchi AH, Malekpour M, Gholami B, Law HY, Almadani N, Afroozan F, Sahebjam F, Pajouh P, Kariminejad R, Kariminejad MH, Azarkeivan A, Jafroodi M, Tamaddoni A, Puehringer H, Oberkanins C, Najmabadi H. Elucidating the spectrum of alpha-thalassemia mutations in Iran. Haematologica. 2007; 92(7):992-3.

 

228. Motazacker MM, Taherzadeh-Fard E, Husseini Z, Behjati F, Esteghamat F, Kahrizi K, Najmabadi H. The Iranian human mutation database. Arch Iran Med. 2007; 10(3):372-5.

 

229. Meyer NC, Alasti F, Nishimura CJ, Imanirad P, Kahrizi K, Riazalhosseini Y, Malekpour M, Kochakian N, Jamali P, Van Camp G, Smith RJ, Najmabadi H. Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.
     Am J Med Genet A. 2007; 143(14):1623-9.

 

230. Van Laer L, Meyer NC, Malekpour M, Riazalhosseini Y, Moghannibashi M, Kahrizi K, Vandevelde A, Alasti F, Najmabadi H, Van Camp G, Smith RJ. A novel DFNA5 mutation does not cause hearing loss in an Iranian family. J Hum Genet. 2007; 52(6):549-52. 

 

231. Abolghasemi H, Amid A, Zeinali S, Radfar MH, Eshghi P, Rahiminejad MS, Ehsani MA, Najmabadi H, Akbari MT, Afrasiabi A, Akhavan-Niaki H, Hoorfar H. Thalassemia in Iran: epidemiology, prevention, and management. J Pediatr Hematol Oncol. 2007; 29(4):233-8.

 

232. Mani A, Radhakrishnan J, Wang H, Mani A, Mani MA, Nelson-Williams C, Carew KS, Mane S, Najmabadi H, Wu D, Lifton RP. LRP6 mutation in a family with early coronary disease and metabolic risk factors. Science. 2007; 315 (5816):1278-82.

 

233. Schwander M, Sczaniecka A, Grillet N, Bailey JS, Avenarius M, Najmabadi H, Steffy BM, Federe GC, Lagler EA, Banan R, Hice R, Grabowski-Boase L, Keithley EM, Ryan AF, Housley GD, Wiltshire T, Smith RJ, Tarantino LM, Muller U. A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci. 2007; 27(9):2163-75.
234. 
      
235. Rezaie T, Karimi-Nejad MH, Meshkat MR, Sohbati S, Karimi-Nejad R, Najmabadi H, Sarfarazi M.Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family. Ophthalmic Genet. 2007; 28(4):224-8.

 

236. Puehringer H, Najmabadi H, Law HY, Krugluger W, Viprakasit V, Pissard S, Baysal E, Taher A, Farra Ch, Al-Ali A, Al-Ateeq S, Obercanins Ch. Validation of reverse-hybridization Strip^Assay for the simultaneous analysis of common α-thalassemia point mutations and deletions. Clin Chem Lab Med. 2007; 45(5):605-10.

 

237. Ohadi M, Keikhaee MR, Javanbakht A, Sargolzaee MR, Mazinani R, Najmabadi H. Gender dismorphism in the DAT1-67 T-allele homozygosity and predisposition to biopolar disorder. Brain Res. 2007; 1144:142-5.

 

238. Wilson RC, Nimkarn S, Dumic M, Obeid J, Azar M, Najmabadi H, Saffari F, New MI. Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Mol Genet Metab. 2007; 90(4):414-21.

 

239. Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Gruters A, Lenzner S, Jensen LR, Ruschendorf F, Kuss AW, Ropers HH. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet. 2007; 121(1):43-8.

 

240. Ohadi M, Totonchi M, Maguire P, Lindblom A, Habibi R, Afshin Alavi B, Keyhani E, Najmabadi H. Mutation analysis of the DBC2 gene in sporadic and familial breast cancer. Acta Oncol. 2007; 46(6):770-2.

 

241. Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. Sensorineural deafness and male infertility-a contiguous gene deletion syndrome. J Med Genet. 2007; 44(4):233-40.

 

242. Keikhaee MR, Hashemi SB, Najmabadi H, Noroozian M. C677T methylentetrahydrofulate reductase and angiotensin converting enzyme gene polymorphisms in patients with Alzheimer's disease in Iranian population. Neurochem Res. 2006; 31(8):1079-83.

 

243. Ohadi M, Shirazi E, Tehranidoosti M, Moghimi N, Keikhaee MR, Ehssani S, Aghajani A, Najmabadi H. Attention-deficit/hyperactivity disorder (ADHD) association with the DAT1 core promoter -67 T allele. Brain Res. 2006; 1101(1):1-4.

 

244. Excoffon KJDA, Avenarius  MR, Hansen MR, Kimberling WJ, Najmabadi H, Smith RJH. Detection and Characterization of Mutations in the Coxsackievirus and Adenovirus Receptor (CAR). Hear Res. 2006; 215(1-2):1-9.

 

245. Kleanthous M, Patsalis PC, Drousiotou A, Motazacker M, Christodoulou K, Cariolou M, Baysal E, Khrizi K, Moghimi B, Pourfarzad F, van Baal S, Deltas C, Najmabadi H, Patrinos GP. The Cypriot and Iranian National Mutation Frequency Databases
      Online Citation: Human Mutation. 2006; 27(6):598-9.

 

246. Bajestan SN, Sabouri AH, Nakamura M, Takashima H, Keikhaee MR, Behdani F, Fayyazi MR, Sargolzaee MR, Bajestan MN, Sabouri Z, Khayami E, Haghighi S, Hashemi SB, Eiraku N, Tufani H, Najmabadi H, Arimura K, Sano A, Osame M. Association of AKT1 haplotype with the risk of schizophrenia in Iranian population. Am J Med Genet B Neuropsychiatr Genet. 2006; 141(4):383-6.

 

247. Aghajani A, Rahimi A, Fadai F, Ebrahimi A, Najmabadi H, Ohadi M. A point mutation at the calreticulin gene core promoter conserved sequence in a case of schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2006; 141(3):294-5.

 

248. Law HY, Luo HY, Wang W, Ho JF, Najmabadi H, Ng IS, Steinberg MH, Chui DH, Chong SS. Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events. Haematologica. 2006; 91(3):297-302.

 

249. Najmabadi H, Ghamari A, Sahebjam F, Kariminejad R, Hadavi V, Khatibi T, Samavat A, Mehdipour E, Modell B, Kariminejad MH. Fourteen-Year Experience of Prental Diagnosis of Thalassemia in Iran. Community Genet. 2006; 9(2):93-7.

 

250. Behjati F, Atri M, Najmabadi H, Nouri K, Zamani M, Mehdipour P. Prognostic Value of Chromosome 1 and 8 Copy Number in Invasive Ductal Breast Carcinoma Among Iranian Women: An Interphase FISH Analysis. Pathol Oncol Res. 2005;11(3):157-63.

 

251. Keikhaee MR, Fadai F, Sargolzaee MR, Javanbakht A, Najmabadi H, Ohadi M. Association analysis of the dopamine Transporter (DAT1)-67A/T polymorphism in bipolar disorder. Am J Med Genet PartB (Neuropsychiatric Genetics) 2005; 135B(1):47-9.

 

252. Riazalhosseini Y, Nishimura C, Kahrizi K, Shafeghati Y, Joghataie MT, Mohseni M, Mahdieh N, Javan MK, Smith RH, Najmabadi H.  DELTA (GJB6-D3S1830) is not common cause of nonsyndromic Hearing loss in the Iranian Population. Arch in Irn Med. 2005; 8(2):104–8.

 

253. Shafeghati Y, Teimourian Sh, Babamohammadi Gh, Afrouzan F, Almadani SN, Karimi-Nejad R, Najmabadi H. Association between the DRD2 A1 Allele and opium-Addiction in the Iranian population. Am J Med Genet B Neuropsychiatr Genet. 2005; 134(1):39-41.

 

254. Najmabadi H, Nishimura S, Kahrizi K, Riazalhosseini Y, Malekpour M, Daneshi A, Farhadi M, Mohseni M, Mahdieh N, Bazazzadegan N, Naghavi A, Avenarius M, Javan Kh, JH Smith R. GJB2 Mutations- Passage Through Iran. Am J Med Genet A. 2005; 133(2):132-7.

 

255. Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Esmaeeli Nieh S,  Firouzabadi SG, Becker C, Rueschendorf F, Nurnberg P, Tzschach A, Vazifemand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet. 2006; 118(6):708-15.

 

256. Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Mueller RF, McGuirt WT, Van Camp G, Najmabadi H, JH Smith R. Mutation of COL11A2 causes Autosomal Ressesive non-syndromic hearing loss at DFNB53 Locus. J Med Genet. 2005; 42(10):e61.

 

257. Kahrizi K, Nishimura C, Naghavi A, Riazalhosseini Y, JH Smith R, Najmabadi H. A novel mutation of SLC26A4 gene in an Iranian family with Pendred syndrome. Int J  Endocrinol Metab. 2005; 2:104-8.

 

258. Radpour R, Haghighi MM, Ohadi M, Broumand B, Najmabadi H.  Molecular Study of PKD1 & PKD2 Genes by Linkage Analysis and Determining the Genotype/Phenotype Correlations in Several Iranian Families with Autosomal Dominant Polycystic Kidney. Med J Islam Rep Iran. 2005; 19(1):65-75.

 

259. Moghimi B, Yavari M, Oberkanins Ch, Hosseini Amini SS, Khatami S, Rouhi S, Kahrizi K, Najmabadi H.  Hb DHONBURI (Neapolis) [β 126 (H4) Valà Gly] Identified in A Family From Northern Iran. Haemoglobin. 2004; 28(4):353-6.

 

260. Shafeghati Y, Teimourian Sh, Babamohammadi Gh, Afrouzan F, Almadani SN, Karimi-Nejad R, Najmabadi H. Molecular Diagnosis in Iranian Patients with Spinal Muscular Atrophy. Arch Irn Med. 2004; 7(1): 47-52.

 

261. Khodayari N, Garshasbi M, Fadai F, Rahimi A, Hafizi L, Ebrahimi A, Najmabadi H, Ohadi M. Association of the Dopamine Transporter Gene (DAT1) Core Promoter Polymorphism-67T Variant with Schizophrenia. Am J Med Genet. 2004; 129B(1):10-12.

 

262. Mahdieh N, Nichimura C, Ali Madadi K, Riazalhosseini Y, Yazdan H, Arzhangi S, Jalalvand K, Ebrahimi A, Kazemi S, JH Smith R, Najmabadi H. The Frequency of GJB2 mutations and the D(GJB6-D13S1830) Deletion as A Cause of Autosomal Recessive Non-Syndromic Deafness in the Kurdish Population. Clin Genet. 2004; 65(6): 106-508.

 

263. Krause S, Schlottel-Weigel B, Walter C, Najmabadi H,Wiendl H, Müller-Höcker J, Muller-Felber W, Pongratz DE, Lochmuller H. A novel homozygous missense mutation in the GNE Gene of a patient with quadriceps spring recessive hereditary inclusion body Myopathy associated with muscle inflammation. Neuromuscul Disord. 2003; 13(10):830-4.
264. Garshasbi M, Oberkanins Ch, Law HY, Neishabury M, Karimi-Nejad R, Najmabadi H. α-Globin Gene Deletion and Point mutation Analysis Among Iranian Patients with Microceytic Hypochromic Anemia. J Hematol. 2003; 88(10):1196-7.

 

265. Neishaboury M, Oberkanins Ch, Abbasi Moheb L, Pourfathollah AA, Kahrizi K, Keyhani E, Krugluger W, Najmabadi H. High prevalence of the -α^3.7 Deletion Among Thalassemia Patients in Iran. Hemoglobin. 2003; 27(1):53-5.

 

266. Najmabadi H, Neishabury M, Sahebjam F, Kahrizi K, Nikzat N, Jalalvan M, Amini F, Bany Hashemi S, Moghimi B, Noorian AR, Jannati A, Mohammadi M, Kh Javan M.  The Iranian Human Mutation Gene Bank: A Date and Sample Resource for Worldwide Collaborative Genetic Research. J Hum Mut. 2003; 21:146-50.

 

267. Najmabadi H, Poorfathollah AA, Neishabury M, Sahebjam F, Krugluger W, Oberkanins Ch. Rare and Unexpected Mutations Among Iranian Beta-Thalassemia patient and Prenatal Samples discovery by Reverse-Hybridization and Sequencing. Haematologica. 2002; 87(10):1113-4.

 

268. Pasalar P, Najmabadi H, Noorian A, Moghimi B, Jannati A, Soltanzadeh A, Krefft T, Crook R, Hardi J. A family with Alzheimer’s disease caused by a Novel APP Mutation (THR714ALA). Neurology. 2002; 58(10):1574-5.

 

269. Najmabadi H, Cucci R, Sahebjam S, Kouchakian N, Farhadi M, Kahrizi K, Arzhangi S, Daneshmandan N, Kh Javan M, JH Smith R. GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.
     Hum Mutat. 2002; 19(5):572. 

 

270. Neishabury M, Abbasi Moheb L, Poorfathollah AA, Kahrizi K, Keyhany E, Krugluger W, Obercanins Ch, Najmabadi H. Alpha Thalassemia Deletion Analysis in Iran. Arch Irn Med. 2001; 4(4):160-4.

 

271. Karimi Nejad MH, Meshkat MR, Sohbati S, Rezaei T, Karimi Nejad R, Najmabadi H, Sarfarazi M.  Report of Leber Congenital Amaurosis in a Large Iranian Kindred. Arch Irn Med. 2001; 4(4):171-6.

 

272. Najmabadi H,et al. Detection of Yq Microdeletion  in oligozoospermic men. Med J Islam Rep Iran. 2001; 14:119-25.

 

273. Najmabadi H, Karimi-Nejad R, Sahebjam S, Pourfarzad F, Teimourian S, Sahebjam F, Amirizadeh N, Karimi-Nejad MH.The  β Thalasemia Mutations Spectrum in Iranian Population. Hemoglobin. 2001; 25(3):285–96.

 

274. Najmabadi H, Teimourian Sh, Khatibi T, Neishabury M, Poufrafzad F, Jalil Negad S, Azad M, Oberkanins Ch, Krugluger W. Comparison of Amplification Refractory System (ARMS) and Reverse Hybridization for the detection of the 10 most common Beta-Thalassemia mutations within the Iranian Population. Arch Irn Med. 2001; 4(4):165-170.

 

275. Feleki X, Najmabadi H, Karimi-Nejad R, Christopoulos G, Kleanthous M. Identification of a novel beta0-thalassemia mutation, codons 80/81 (-C), in an Iranian family. Hemoglobin. 2000; 24(4):319-21.

 

276. Najmabadi H, Sahebjam S, Karimi-Nejad R, Saremi A, Sahebjam F, Shafeghati Y, Karimi-Nejad MH.Short Man with 46,X, Del (Yp) Del (Yq) Karyotype and More Distal Yq Deletion. Arch Irn Med. 2000; 3(4):204-6.

 

277. Chai NN, Zhou H, Hernandez J, Najmabadi H, Bhasin S, Yen PH. Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene. Genomics. 1998; 49(2):283-9.

 

278. Najmabadi H, Huang V, Yen P, Subbarao M, Bhasin D, Banaag L, Naseeruddin S, de Kresters D, Baker H, Mclachlan R, Loveland K, Bhasin S. Substantial  prevalence  of  micordeletions  of  the Y chromosome  in infertile  men with idiopathic  azoospermia  and oligozosspermia detected using sequence  tagged  site  (STS) - based  mapping strategy . J Clin  Endocrinol  Metab. 1996; 81:1347–52.

 

279. Najmabadi H, Chai N, Kapali A, Subbarao MN, Bhasin D, Woodhouse E, Yen P, Bhasin S. Genomic structure of a Y-specific ribonucleic acid binding motif-containing gene: a putative candidate for a subset of male infertility. J Clin Endocrinol Metab. 1996; 81(6):2159-64.

 

280. Najmabadi H, Huang V, Yen P, Subbarao MN, Bhasin D, Banaag L, Naseeruddin S, de Kretser DM, Baker HW, McLachlan RI, et al. Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy. J Clin Endocrinol Metab. 1996; 81(4):1347-52.

 

281. Taylor EW, Najmabadi H, Strathearn M, Jou NT, Liebling M, Rajavashisth T, Chanani N, Phung L, Bhasin S. Human stem cell factor promoter deoxyribonucleic acid sequence and regulation by cyclic 3',5'-adenosine monophosphate in a Sertoli cell line. Endocrinol. 1996; 137(12):5407-14.

 

282. Butto F, Ben Shachar G, Najmabadi H, Smith G. Massive cardiac tumor presenting as severe cyanosis in a newborn. Pediatr Cardiol. 1994; 15(2):103-4.

 

283. Najmabadi H, Rosenberg LA, Yuan QX, Reyaz G, Bhasin S. Transcriptional regulation of inhibin beta B messenger ribonucleic acid levels in TM.4 or primary rat Sertoli cells by 8-bromo-cyclic adenosine monophosphate. Mol Endocrinol. 1993; 7(4):561-9.

 

284. Butto F, Margraf L, Smith G, Najmabadi H. Aortic atresia and tricuspid atresia occurring in complete transposition of the great vessels. Pediatr Cardiol. 1993; 14(2):133-4.

 

285. Bhasin S, Rosenberg LA, Strathearn M, Sod- moriah UA, Krummen LA, Burger H, Albiston A, Najmabadi H. Trasncriptional Regulation  of  Inhibin  Alpha  and Beta  B Subunit  Genes  by  3¢,5¢ , Cycilc- Adenosine  Monophosphats. In: Burger  H (Ed). Frontiers in Endocrinology: Inhibin and Related Proteins. 1993; pp:209-24.

 

286. Najmabadi H, Rosenberg LA, Yuan QX, Bhatia N, Albiston A, Burger H, Bhasin S. Transcriptional and posttranscriptional regulation of inhibin alpha-subunit gene expression in rat Sertoli cells by 8-bromo-3',5'-cyclic-adenosine monophosphate. Mol Endocrionol. 1993; 7(4):469-76.