Najmabadi H - Search Results

1

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D. Averdunk L, et al. Among authors: najmabadi h. J Mol Med (Berl). 2021 Dec;99(12):1769-1770. doi: 10.1007/s00109-021-02153-4. J Mol Med (Berl). 2021. PMID: 34661688 Free PMC article. No abstract available.

2

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.

3

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

4

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.

5

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

6

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

7

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

8

GJB2 mutations in Baluchi population.

Naghavi A, Nishimura C, Kahrizi K, Riazalhosseini Y, Bazazzadegan N, Mohseni M, Smith RJ, Najmabadi H. Naghavi A, et al. Among authors: najmabadi h. J Genet. 2008 Aug;87(2):195-7. doi: 10.1007/s12041-008-0031-5. J Genet. 2008. PMID: 18776652 No abstract available.

9

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.

10

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

Kahrizi K, Mohseni M, Nishimura C, Bazazzadegan N, Fischer SM, Dehghani A, Sayfati M, Taghdiri M, Jamali P, Smith RJ, Azizi F, Najmabadi H. Kahrizi K, et al. Among authors: najmabadi h. Eur J Pediatr. 2009 Jun;168(6):651-3. doi: 10.1007/s00431-008-0809-8. Epub 2008 Sep 24. Eur J Pediatr. 2009. PMID: 18813951 Free PMC article.

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