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Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
MacFarlane JR, Du JS, Pepys ME, Ramsden S, Donnai D, Charlton R, Garrett C, Tolmie J, Yates JR, Berry C, Goudie D, Moncla A, Lunt P, Hodgson S, Jouet M, Kenwrick S. MacFarlane JR, et al. Hum Mutat. 1997;9(6):512-8. doi: 10.1002/(SICI)1098-1004(1997)9:6<512::AID-HUMU3>3.0.CO;2-3. Hum Mutat. 1997. PMID: 9195224
Mutations in the chromatin-associated protein ATRX.
Gibbons RJ, Wada T, Fisher CA, Malik N, Mitson MJ, Steensma DP, Fryer A, Goudie DR, Krantz ID, Traeger-Synodinos J. Gibbons RJ, et al. Among authors: goudie dr. Hum Mutat. 2008 Jun;29(6):796-802. doi: 10.1002/humu.20734. Hum Mutat. 2008. PMID: 18409179
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Mutation and association analysis of GEN1 in breast cancer susceptibility.
Turnbull C, Hines S, Renwick A, Hughes D, Pernet D, Elliott A, Seal S, Warren-Perry M, Gareth Evans D, Eccles D; Breast Cancer Susceptibility Collaboration UK; Stratton MR, Rahman N. Turnbull C, et al. Breast Cancer Res Treat. 2010 Nov;124(1):283-8. doi: 10.1007/s10549-010-0949-1. Epub 2010 May 30. Breast Cancer Res Treat. 2010. PMID: 20512659 Free PMC article.
105 results