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Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR, Bitner-Glindzicz M, Reardon W, Mueller RF, Kelsell DP. Houseman MJ, et al. Among authors: pagnamenta a. J Med Genet. 2001 Jan;38(1):20-5. doi: 10.1136/jmg.38.1.20. J Med Genet. 2001. PMID: 11134236 Free PMC article.
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.
Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, Giorda R, Berney T, Mani E, Molteni M, Pinto D, Le Couteur A, Hallmayer J, Sutcliffe JS, Szatmari P, Paterson AD, Scherer SW, Vieland VJ, Monaco AP. Pagnamenta AT, et al. J Med Genet. 2011 Jan;48(1):48-54. doi: 10.1136/jmg.2010.079426. Epub 2010 Oct 23. J Med Genet. 2011. PMID: 20972252 Free PMC article.
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ; International Molecular Genetic Study of Autism Consortium (IMGSAC); Parr JR, Wilkie AO. Babbs C, et al. Among authors: pagnamenta at. J Med Genet. 2014 Nov;51(11):737-47. doi: 10.1136/jmedgenet-2014-102582. Epub 2014 Sep 16. J Med Genet. 2014. PMID: 25228304 Free PMC article.
A 15q13.3 microdeletion segregating with autism.
Pagnamenta AT, Wing K, Sadighi Akha E, Knight SJ, Bölte S, Schmötzer G, Duketis E, Poustka F, Klauck SM, Poustka A, Ragoussis J, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism Consortium. Pagnamenta AT, et al. Eur J Hum Genet. 2009 May;17(5):687-92. doi: 10.1038/ejhg.2008.228. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050728 Free PMC article.
220 results