Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls
- Creator: Thompson, Ella R. , Gorringe, Kylie L. , Lupat, Richard , Delatycki, Martin B. , LifePool Investigators, , Mitchell , Gillian , James , Paul A. , Scott, Rodney J. , Campbell, Ian G. , Rowley, Simone M. , Wong-Brown, Michelle W. , McInerny, Simone , Li, Na , Trainer, Alison H. , Devereux, Lisa , Doyle, Maria A. , Li, Jason
- Resource Type: journal article
- Date: 2015
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
- Creator: Jensen, Lars R. , Chen, Wei , van Esch, Hilde , Chelly, Jamel , de Brouwer , Arjan P. M. , Hackett, Anna , van der Haar , Sigrun , Henn, Wolfram , Gecz, Jozef , Riess, Olaf , Bonin, Michael , Reinhardt, Richard , Moser, Bettina , Ropers, Hans-Hilger , Kuss, Andreas W. , Lipkowitz, Bettina , Schroeder, Christopher , Musante, Luciana , Tzschach, Andreas , Kalscheuer, Vera M. , Meloni, Ilaria , Raynaud, Martine
- Resource Type: journal article
- Date: 2011
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
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
- Creator: Frints, Suzanna Gerarda Maria , Lenzner, Steffen , Turner, Gillian , Bauters, Mareike , Jensen, Lars Riff , Van Esch, Hilde , des Portes, Vincent , Moog, Ute , Macville, Merryn Victor Erik , van Roozendaal, Kees , Schrander-Stumpel, Constance Theresia Rimbertha Maria
- Resource Type: journal article
- Date: 2008