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BMC Medical Genetics|November 25, 2010
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32Kathryn Hattersley, Kate J Laurie, Jan E Liebelt, et al.
Molecular Vision|April 24, 2008
A novel locus for X-linked congenital cataract on Xq24Jamie E Craig, Kathryn L Friend, Jozef Gecz, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 14, 2020
Levetiracetam efficacy in PCDH19 Girls Clustering EpilepsyLynette G Sadleir, Kristy L Kolc, Chontelle King, et al.
The Journal of Clinical Endocrinology and Metabolism|March 18, 2015
Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversalBryan Haines, James Hughes, Mark Corbett, et al.
Journal of Medical Genetics|September 16, 2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesKim Hynes, Patrick Tarpey, Leanne M Dibbens, et al.
Open Biology|April 17, 2024
Mapping combinatorial expression of non-clustered protocadherins in the developing brain identifies novel PCDH19-mediated cell adhesion propertiesStefka Mincheva-Tasheva, Chandran Pfitzner, Raman Kumar, et al.
Nucleic Acids Research|January 13, 2009
FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structureMounia Bensaid, Mireille Melko, Elias G Bechara, et al.
American Journal of Medical Genetics. Part A|December 29, 2015
A mutation in COL4A2 causes autosomal dominant porencephaly with cataractsThuong T Ha, Lynette G Sadleir, Simone A Mandelstam, et al.
Epilepsia|April 6, 2023
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansionsMark A Corbett, Christel Depienne, Liana Veneziano, et al.
Human Molecular Genetics|February 11, 2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activityEmily Brookes, Benoit Laurent, Katrin Õunap, et al.
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