Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: a case report
- Creator: Hwang, Yun Tae , Aliaga, Solange Mabel , Heard, Robert , Godler, David Eugeny , Arpone, Marta , Francis, David , Li, Xin , Chong, Belinda , Slater, Howard Robert , Rogers, Carolyn , Bretherton, Lesley , Hunter, Matthew
- Resource Type: journal article
- Date: 2016
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
- Creator: Hynes, Kim , Tarpey, Patrick , Haan, Eric , Turner, Gillian , Christodoulou, John , Leonard, Helen , Gill, Deepak , Stratton, Michael R. , Gecz, Jozef , Scheffer, Ingrid E. , Dibbens, Leanne M. , Bayly, Marta A. , Berkovic, Samuel F. , Smith, Raffaella , Al Raisi, Zahyia , Turner, Samantha J. , Brown, Natasha J. , Desai, Tarishi D.
- Resource Type: journal article
- Date: 2010
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
- Creator: Tarpey, Patrick S. , Smith, Raffaella , Stephens, Phil , Blow, Matt , Greenman, Chris , Xue, Yali , Tyler-Smith, Chris , Thompson, Deborah , Gray, Kristian , Andrews, Jenny , Barthorpe, Syd , Buck, Gemma , Pleasance, Erin , Hackett, Anna , Whibley, Annabel , Edkins, Sarah , Hardy, Claire , O'Meara, Sarah , Latimer, Calli , Dicks, Ed , Menzies, Andrew
- Resource Type: journal article
- Date: 2009
Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion
- Creator: Ronan, Anne , Buiting, Karin , Dudding, Tracy
- Resource Type: journal article
- Date: 2008