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
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
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
- Creator: Wu, Ye , Arai, Amy C. , Boyle, Jackie , Tarpey, Patrick , Raymond, F. Lucy , Nevelsteen, Joke , Froyen, Guy , Stratton, Mike , Futreal, Andy , Gecz, Jozef , Stevenson, Roger , Schwartz, Charles E. , Rumbaugh, Gavin , Valle, David , Huganir, Richard L. , Wang, Tao , Srivastava, Anand K. , Turner, Gillian , Hayashi, Takashi , Suzuki, Erika , Jiang, Yuwu , Zhang, Lilei , Rodriguez, Jayson
- Resource Type: journal article
- Date: 2007