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Title Author/Creator Date Full Text Reviewed
Add CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes Hackett, Anna; Tarpey, Patrick S.; Tolmie, John; Yates, John R. W.; Turner, Gillian... More 2010 — Reviewed
Add Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families Hynes, Kim; Tarpey, Patrick; Haan, Eric; Turner, Gillian; Christodoulou, John... More 2010 — Reviewed
Add Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation Rujirabanjerd, Sinitdhorn; Nelson, John; Futreal, P. Andrew; Stratton, Michael R.; Gecz, Jozef... More 2010 — Reviewed
Add MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression Frints, Suzanna Gerarda Maria; Lenzner, Steffen; Turner, Gillian; Bauters, Mareike; Jensen, Lars Riff... More 2008 — Reviewed
Add Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks Kerzendorfer, Claudia; Whibley, Annabel; Carpenter, Gillian; Outwin, Emily; Chiang, Shih-Chieh... More 2010 — Reviewed
Add Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans Wu, Ye; Arai, Amy C.; Boyle, Jackie; Tarpey, Patrick; Raymond, F. Lucy... More 2007 — Reviewed
Add Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation Jensen, L. R.; Amende, M.; Gurok, U.; Moser, B.; Gimmel, V.... More 2005 — Reviewed
Add Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation Molinari, Florence; Foulquier, François; Matthijs, Gert; Gecz, Jozef; Munnich, Arnold... More 2008 — Reviewed
Add SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome Gilfillan, Gregor D.; Selmer, Kaja K.; Sjøholm, Hans; Server, Andres; Samuelsson, Lena... More 2008 — Reviewed
Add Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation Froyen, Guy; Corbett, Mark; Chelly, Jamel; Sanlaville, Damien; van Bokhoven, Hans... More 2008 — Reviewed
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