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POLRMT mutations impair mitochondrial transcription causing neurological disease.
Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mráček T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. Oláhová M, et al. Among authors: kahrizi k. Nat Commun. 2021 Feb 18;12(1):1135. doi: 10.1038/s41467-021-21279-0. Nat Commun. 2021. PMID: 33602924 Free PMC article.
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H. Garshasbi M, et al. Among authors: kahrizi k. Hum Genet. 2006 Feb;118(6):708-15. doi: 10.1007/s00439-005-0104-y. Epub 2005 Nov 26. Hum Genet. 2006. PMID: 16311745
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
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, Grüters A, Lenzner S, Jensen LR, Rüschendorf F, Kuss AW, Ropers HH. Najmabadi H, et al. Among authors: kahrizi k. Hum Genet. 2007 Mar;121(1):43-8. doi: 10.1007/s00439-006-0292-0. Epub 2006 Nov 21. Hum Genet. 2007. PMID: 17120046
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: kahrizi k. Arch Iran Med. 2007 Jul;10(3):372-5. Arch Iran Med. 2007. PMID: 17604476 No abstract available.
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW. Garshasbi M, et al. Among authors: kahrizi k. Am J Hum Genet. 2008 May;82(5):1158-64. doi: 10.1016/j.ajhg.2008.03.018. Epub 2008 May 1. Am J Hum Genet. 2008. PMID: 18452889 Free PMC article.
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: kahrizi k. J Genet. 2008 Aug;87(2):195-7. doi: 10.1007/s12041-008-0031-5. J Genet. 2008. PMID: 18776652 Free article. No abstract available.
168 results