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Page 1
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel HL, Reiter AMV, Elsner J, Meinecke P, Biskup S, Chung BHY, Dombrowsky G, Eckmann-Scholz C, Hitz MP, Hoischen A, Holterhus PM, Hülsemann W, Kahrizi K, Kalscheuer VM, Kan A, Krumbiegel M, Kurth I, Leubner J, Longardt AC, Moritz JD, Najmabadi H, Skipalova K, Snijders Blok L, Tzschach A, Wiedersberg E, Zenker M, Garcia-Cabau C, Buschow R, Salvatella X, Kraushar ML, Mundlos S, Caliebe A, Spielmann M, Horn D, Hnisz D. Mensah MA, et al. Among authors: najmabadi h. Nature. 2023 Feb;614(7948):564-571. doi: 10.1038/s41586-022-05682-1. Epub 2023 Feb 8. Nature. 2023. PMID: 36755093 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: najmabadi h. 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. 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: najmabadi h. Arch Iran Med. 2007 Jul;10(3):372-5. Arch Iran Med. 2007. PMID: 17604476 No abstract available.
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
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. Motazacker MM, et al. Among authors: najmabadi h. Am J Hum Genet. 2007 Oct;81(4):792-8. doi: 10.1086/521275. Epub 2007 Aug 31. Am J Hum Genet. 2007. PMID: 17847003 Free PMC article.
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: najmabadi h. 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.
323 results