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Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers HH, Kuss AW. Jensen LR, et al. Among authors: de brouwer ap. Eur J Hum Genet. 2011 Jun;19(6):717-20. doi: 10.1038/ejhg.2010.244. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267006 Free PMC article.
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H. Kleefstra T, et al. Among authors: de brouwer ap, de vries bb, de bruijn d. J Med Genet. 2005 Apr;42(4):299-306. doi: 10.1136/jmg.2004.028464. J Med Genet. 2005. PMID: 15805155 Free PMC article.
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, Fryns JP, Jensen LR, Chelly J, Moraine C, Turner G, Veltman JA, Hamel BC, de Vries BB, van Bokhoven H, Yntema HG. Lugtenberg D, et al. Among authors: de brouwer ap, de vries bb. J Med Genet. 2006 Apr;43(4):362-70. doi: 10.1136/jmg.2005.036178. Epub 2005 Sep 16. J Med Genet. 2006. PMID: 16169931 Free PMC article.
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.
Lugtenberg D, Yntema HG, Banning MJ, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH, Chelly J, Moraine C, Gecz J, van Reeuwijk J, Nabuurs SB, de Vries BB, Hamel BC, de Brouwer AP, van Bokhoven H. Lugtenberg D, et al. Among authors: de brouwer ap, de vries bb. Am J Hum Genet. 2006 Feb;78(2):265-78. doi: 10.1086/500306. Epub 2005 Dec 29. Am J Hum Genet. 2006. PMID: 16385466 Free PMC article.
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, des Portes V, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC. de Brouwer AP, et al. Among authors: de vries bb. Hum Mutat. 2007 Feb;28(2):207-8. doi: 10.1002/humu.9482. Hum Mutat. 2007. PMID: 17221867
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP. Lugtenberg D, et al. Among authors: de brouwer ap. Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5. Eur J Hum Genet. 2009. PMID: 18985075 Free PMC article.
151 results