Najmabadi H - Search Results

1

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.

Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, Einarsen IH, Sloan JL, Najmabadi H, van den Heuvel L, Wevers RA, Guerrero-Castillo S, Mørkrid L, Valayannopoulos V, Backe PH, Venditti CP, van Karnebeek CD, Nilsen H, Frengen E, Misceo D. Sumathipala D, et al. Among authors: najmabadi h. Brain. 2022 Jul 29;145(7):2602-2616. doi: 10.1093/brain/awac034. Brain. 2022. PMID: 35104841 Free PMC article.

2

GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.

Najmabadi H, Cucci RA, Sahebjam S, Kouchakian N, Farhadi M, Kahrizi K, Arzhangi S, Daneshmandan N, Javan K, Smith RJ. Najmabadi H, et al. Hum Mutat. 2002 May;19(5):572. doi: 10.1002/humu.9033. Hum Mutat. 2002. PMID: 11968091

3

The Iranian Human Mutation Gene Bank: a data and sample resource for worldwide collaborative genetics research.

Najmabadi H, Neishabury M, Sahebjam F, Kahrizi K, Shafaghati Y, Nikzat N, Jalalvand M, Aminy F, Hashemi SB, Moghimi B, Noorian AR, Jannati A, Mohammadi M, Javan K; Iranian Human Mutation Gene Bank. Najmabadi H, et al. Hum Mutat. 2003 Feb;21(2):146-50. doi: 10.1002/humu.10164. Hum Mutat. 2003. PMID: 12552562

4

High prevalence of the -alpha3.7 deletion among thalassemia patients in Iran.

Neishabury M, Oberkanins C, Moheb LA, Pourfatholuah AA, Kahrizi K, Keyhany E, Krugluger W, Najmabadi H. Neishabury M, et al. Among authors: najmabadi h. Hemoglobin. 2003 Feb;27(1):53-5. doi: 10.1081/hem-120018438. Hemoglobin. 2003. PMID: 12603096 No abstract available.

5

Hb Dhonburi (Neapolis) [beta126(H4)Val-->Gly] identified in a family from northern Iran.

Moghimi B, Yavarian M, Oberkanins C, Amini SS, Khatami S, Rouhi S, Kahrizi K, Najmabadi H. Moghimi B, et al. Among authors: najmabadi h. Hemoglobin. 2004;28(4):353-6. doi: 10.1081/hem-200038876. Hemoglobin. 2004. PMID: 15658193

6

The Iranian human mutation database.

Motazacker MM, Taherzadeh-Fard E, Husseini Z, Behjati F, Esteghamat F, Kahrizi K, Najmabadi H. Motazacker MM, et al. Among authors: najmabadi h. Arch Iran Med. 2007 Jul;10(3):372-5. Arch Iran Med. 2007. PMID: 17604476 No abstract available.

7

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.

Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW. Moheb LA, et al. Among authors: najmabadi h. Eur J Hum Genet. 2008 Feb;16(2):270-3. doi: 10.1038/sj.ejhg.5201967. Epub 2007 Nov 28. Eur J Hum Genet. 2008. PMID: 18043714

8

CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population.

Shojasaffar B, Moradin N, Kahrizi K, Cobo AM, Najmabadi H. Shojasaffar B, et al. Among authors: najmabadi h. Can J Neurol Sci. 2008 May;35(2):216-9. doi: 10.1017/s0317167100008660. Can J Neurol Sci. 2008. PMID: 18574937

9

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.

Behjati F, Shafaghati Y, Firouzabadi SG, Kahrizi K, Bagherizadeh I, Najmabadi H, Bint S, Ogilvie C. Behjati F, et al. Among authors: najmabadi h. Eur J Med Genet. 2008 Nov-Dec;51(6):608-14. doi: 10.1016/j.ejmg.2008.06.007. Epub 2008 Jul 12. Eur J Med Genet. 2008. PMID: 18674645

10

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

Kahrizi K, Najmabadi H, Kariminejad R, Jamali P, Malekpour M, Garshasbi M, Ropers HH, Kuss AW, Tzschach A. Kahrizi K, et al. Among authors: najmabadi h. Eur J Hum Genet. 2009 Jan;17(1):125-8. doi: 10.1038/ejhg.2008.159. Epub 2008 Sep 10. Eur J Hum Genet. 2009. PMID: 18781183 Free PMC article.

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