A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
- Creator: Corbett, Mark A. , Dudding-Byth, Tracy , Friend, Kathryn L. , Crawford, Jo , Jackson, Graeme , Vandeleur, Lucianne , Hackett, Anna , Tarpey, Patrick , Stratton, Michael R. , Turner, Gillian , Gécz, Jozef , Field, Michael , Crock, Patricia A. , Botta, Elena , Christie, Louise M. , Nardo, Tiziana , Caligiuri, Giuseppina , Hobson, Lynne , Boyle, Jackie , Mansour, Albert
- Resource Type: journal article
- Date: 2015
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
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation
- Creator: Rujirabanjerd, Sinitdhorn , Nelson, John , Futreal, P. Andrew , Stratton, Michael R. , Gecz, Jozef , Tarpey, Patrick S. , Hackett, Anna , Edkins, Sarah , Raymond, F. Lucy , Schwartz, Charles E. , Turner, Gillian , Iwase, Shigeki , Shi, Yang
- Resource Type: journal article
- Date: 2010
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation
- Creator: Molinari, Florence , Foulquier, François , Matthijs, Gert , Gecz, Jozef , Munnich, Arnold , Colleaux, Laurence , Tarpey, Patrick S. , Morelle, Willy , Boissel, Sarah , Teague, Jon , Edkins, Sarah , Futreal, P. Andrew , Stratton, Michael R. , Turner, Gillian
- Resource Type: journal article
- Date: 2008
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
- Creator: Gilfillan, Gregor D. , Selmer, Kaja K. , Sjøholm, Hans , Server, Andres , Samuelsson, Lena , Christianson, Arnold , Tarpey, Patrick , Whibley, Annabel , Stratton, Michael R. , Futreal, P. Andrew , Teague, Jon , Edkins, Sarah , Roxrud, Ingrid , Gecz, Jozef , Turner, Gillian , Raymond, F. Lucy , Schwartz, Charles , Stevenson, Roger E. , Undlien, Dag E. , Strømme, Petter , Smith, Raffaella , Kyllerman, Mårten , Eiklid, Kristin , Kroken, Mette , Mattingsdal, Morten , Egeland, Thore , Stenmark, Harald
- Resource Type: journal article
- Date: 2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
- Creator: Froyen, Guy , Corbett, Mark , Chelly, Jamel , Sanlaville, Damien , van Bokhoven, Hans , Ropers, Hans-Hilger , Laumonnier, Frederic , Ranieri, Enzo , Schwartz, Charles E. , Abidi, Fatima , Tarpey, Patrick S. , Futreal, P. Andrew , Vandewalle, Joke , Whibley, Annabel , Raymond, F. Lucy , Stratton, Michael R. , Fryns, Jean-Pierre , Scott, Rodney , Peippo, Maarit , Sipponen, Marjatta , Partington, Michael , Mowat, David , Field, Michael , Jarvela, Irma , Hackett, Anna , Marynen, Peter , Turner, Gillian , Gécz, Jozef , Lawrence, Owen , Meldrum, Cliff , Bauters, Marijke , Govaerts, Karen , Vandeleur, Lucianne , Van Esch, Hilde
- Resource Type: journal article
- Date: 2008