An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p-Reference-Cited by-同舟云学术

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An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p

Published:2011-12-07 Issue:2 Volume:158A Page:400-405
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Boutry-Kryza Nadia,Labalme Audrey,Till Marianne,Schluth-Bolard Caroline,Langue Jacques,Turleau Catherine,Edery Patrick,Sanlaville Damien

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34222/fullpdf

Reference19 articles.

1. Mechanisms and consequences of small supernumerary marker chromosomes: From Barbara McClintock to modern genetic-counseling issues;Baldwin;Am J Hum Genet,2008

2. Detection of low-level mosaicism by array CGH in routine diagnostic specimens;Ballif;Am J Med Genet Part A,2006

3. Supernumerary marker chromosomes in man: Parental origin, mosaicism and maternal age revisited;Crolla;Eur J Hum Genet,2005

4. Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation;Ding;Mol Cell,2008

5. The human CDK8 subcomplex is a histone kinase that requires Med12 for activity and can function independently of mediator;Knuesel;Mol Cell Biol,2009

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1. MED13 Gene Mutation Related to Autism Spectrum Disorder: A Case Report;Cureus;2024-05-08

2. A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis;American Journal of Medical Genetics Part A;2024-03-25

3. Mediator complex in neurological disease;Life Sciences;2023-09

4. MED13L and its disease‐associated variants influence the dendritic development of cerebral cortical neurons in the mammalian brain;Journal of Neurochemistry;2023-02-28

5. Transcription Pause and Escape in Neurodevelopmental Disorders;Frontiers in Neuroscience;2022-05-09

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