Three Rett patients with both MECP2 mutation and 15q11–13 rearrangements-Reference-Cited by-同舟云学术

Three Rett patients with both MECP2 mutation and 15q11–13 rearrangements

Published:2004-04-07 Issue:8 Volume:12 Page:682-685
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Longo Ilaria,Russo Luisa,Meloni Ilaria,Ricci Iolanda,Ariani Francesca,Pescucci Chiara,Giordano Carmela Tiziana,Canitano Roberto,Hayek Giuseppe,Zappella Michele,Neri Giovanni,Renieri Alessandra,Gurrieri Fiorella

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201198.pdf

Reference24 articles.

1. Ritvo ER, Mason Brothers A, Freeman BJ et al: The UCLA-University of Utah epidemiologic survey of autism: the etiologic role of rare diseases. Am J Psychiatry 1990; 147: 1614–1621.

2. Gillberg C, Coleman M : Autism and medical disorders: a review of the literature. Dev Med Child Neurol 1996; 38: 191–202.

3. Bailey A, Le Couteur A, Gottesman I et al: Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 1995; 25: 63–77.

4. Steffenburg S, Gillberg C, Hellgren L et al: A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatr 1989; 30: 405–406.

5. Bolton P, Macdonald H, Pickles A et al: A case–control family history study of autism. J Child Psychol Psychiatry 1994; 35: 877–900.

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1. Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH;Gene;2012-01

2. Autistic Spectrum Disorders;Swaiman's Pediatric Neurology;2012

3. C15orf2 and a novel noncoding transcript from the Prader–Willi/Angelman syndrome region show monoallelic expression in fetal brain;Genomics;2007-05

4. 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders;Human Molecular Genetics;2007-03-05

5. Clinical Stringency Greatly Improves Mutation Detection in Rett Syndrome;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;2005-08