Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency-Reference-Cited by-同舟云学术

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency

Published:2012-02 Issue:2 Volume:55 Page:132-134
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Capelli Leonardo P.,Krepischi Ana C.V.,Gurgel-Giannetti Juliana,Mendes Mirian Fabiola S.,Rodrigues Tatiane,Varela Monica C.,Koiffmann Célia P.,Rosenberg Carla

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference13 articles.

1. Imprinted segments in the human genome: different DNA methylation patterns in the Prader–Willi/Angelman syndrome region as determined by the genomic sequencing method;Zeschnigk;Hum. Mol. Genet.,1997

2. Angelman syndrome: difficulties in EEG pattern recognition and possible misinterpretations;Valente;Epilepsia,2003

3. Angelman syndrome 2005: updated consensus for diagnostic criteria;Williams;Am. J. Med. Genet. A,2006

4. A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient;Varela;Cytogenet. Genome Res.,2006

5. Deletion 22q13.3 syndrome;Phelan;Orphanet. J. Rare. Dis.,2008

Cited by 41 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Special clinical entity with 15q26 deletion: a novel case report;Journal of Genetics;2024-05-28

2. CHROMO domain readers: A rainbow of opportunities;Chromatin Readers in Health and Disease;2024

3. A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems;Molecular Genetics & Genomic Medicine;2023-10-25

4. Chromatin gatekeeper and modifier CHD proteins in development, and in autism and other neurological disorders;Psychiatric Genetics;2023-10-16

5. Rise of the Chromodomain Helicase DNA‐Binding (CHD) Chromatin Remodelling Machines;Encyclopedia of Life Sciences;2023-03-30