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Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
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. Mir A, et al. Among authors: vincent jb. Am J Hum Genet. 2009 Dec;85(6):909-15. doi: 10.1016/j.ajhg.2009.11.009. Am J Hum Genet. 2009. PMID: 20004765 Free PMC article.
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
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. Rafiq MA, et al. Among authors: vincent jb. Am J Hum Genet. 2011 Jul 15;89(1):176-82. doi: 10.1016/j.ajhg.2011.06.006. Am J Hum Genet. 2011. PMID: 21763484 Free PMC article.
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Khan MA, Rafiq MA, Noor A, Hussain S, Flores JV, Rupp V, Vincent AK, Malli R, Ali G, Khan FS, Ishak GE, Doherty D, Weksberg R, Ayub M, Windpassinger C, Ibrahim S, Frye M, Ansar M, Vincent JB. Khan MA, et al. Among authors: vincent ak, vincent jb. Am J Hum Genet. 2012 May 4;90(5):856-63. doi: 10.1016/j.ajhg.2012.03.023. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541562 Free PMC article.
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
Mir A, Sritharan K, Mittal K, Vasli N, Araujo C, Jamil T, Rafiq MA, Anwar Z, Mikhailov A, Rauf S, Mahmood H, Shakoor A, Ali S, So J, Naeem F, Ayub M, Vincent JB. Mir A, et al. Among authors: vincent jb. Hum Genet. 2014 Aug;133(8):975-84. doi: 10.1007/s00439-014-1438-0. Epub 2014 Mar 13. Hum Genet. 2014. PMID: 24623383
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Müller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC. Bernkopf M, et al. Among authors: vincent jb. Hum Mol Genet. 2014 Aug 1;23(15):4015-23. doi: 10.1093/hmg/ddu115. Epub 2014 Mar 13. Hum Mol Genet. 2014. PMID: 24626631 Free PMC article.
303 results