Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders
White, Rose, Ho, Gladys, Schmidt, Swetlana, Scheffer, Ingrid E., Fischer, Alexandra, Yendle, Simone C., Bienvenu, Thierry, Nectoux, Juliette, Ellaway, Carolyn J., Darmanian, Artur, Tong, XingZhang, Cloosterman, Desiree, Bennetts, Bruce, Kalra, Veena, Fullston, Tod, Gecz, Jozef, Cox, Timothy C., Christodoulou, John
Published in Twin research and human genetics (01.04.2010)
Published in Twin research and human genetics (01.04.2010)
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Journal Article
ARX: a gene for all seasons
Gécz, Jozef, Cloosterman, Desiree, Partington, Michael
Published in Current opinion in genetics & development (01.06.2006)
Published in Current opinion in genetics & development (01.06.2006)
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Journal Article
Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome
Armani, Roksana, Archer, Hayley, Clarke, Angus, Vasudevan, Pradeep, Zweier, Christiane, Ho, Gladys, Williamson, Sarah, Cloosterman, Desiree, Yang, Nan, Christodoulou, John
Published in American journal of medical genetics. Part A (01.04.2012)
Published in American journal of medical genetics. Part A (01.04.2012)
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Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband
HARDWICK, Simon A, REUTER, Kirsten, SMITH, Robert L, CLOOSTERMAN, Desiree, CHRISTODOULOU, John, WILLIAMSON, Sarah L, VASUDEVAN, Vidya, DONALD, Jennifer, SLATER, Katrina, BENNETTS, Bruce, BEBBINGTON, Ami, LEONARD, Helen, WILLIAMS, Simon R
Published in European journal of human genetics : EJHG (01.12.2007)
Published in European journal of human genetics : EJHG (01.12.2007)
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Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division
Shoubridge, Cheryl, Tan, May Huey, Fullston, Tod, Cloosterman, Desiree, Coman, David, McGillivray, George, Mancini, Grazia M, Kleefstra, Tjitske, Gécz, Jozef
Published in PathoGenetics (05.01.2010)
Published in PathoGenetics (05.01.2010)
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