Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36-Reference-Cited by-同舟云学术

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36

Published:2008-11-15 Issue:22 Volume:146A Page:2891-2897
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Saito Shoji,Kawamura Rie,Kosho Tomoki,Shimizu Takashi,Aoyama Koki,Koike Kenichi,Wada Takahito,Matsumoto Naomichi,Kato Mitsuhiro,Wakui Keiko,Fukushima Yoshimitsu

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference32 articles.

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3. Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation;Battaglia;Pediatrics,2008

4. Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction;Chen;Mol Genet Metab,2002

5. Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski −/− mice;Colmenares;Nat Genet,2002

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1. Epileptic encephalopathy caused by 1p36 deletion: literature review and case series;Russian Journal of Child Neurology;2022-09-13

2. Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality;Frontiers in Neuroscience;2022-07-27

3. Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome;Journal of Pediatric Genetics;2021-07-29

4. DELETION 1p36 SYNDROME;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

5. Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria;European Journal of Human Genetics;2020-06-02