Deletion ofUBE3Ain brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2-Reference-Cited by-同舟云学术

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Deletion ofUBE3Ain brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2

Published:2014-08-06 Issue:11 Volume:164 Page:2873-2878
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kuroda Yukiko¹,Ohashi Ikuko¹,Saito Toshiyuki²,Nagai Jun-Ichi²,Ida Kazumi¹,Naruto Takuya¹,Wada Takahito³,Kurosawa Kenji¹

Affiliation:

1. Division of Medical Genetics; Kanagawa Children's Medical Center; Yokohama Japan

2. Department of Clinical Laboratory; Kanagawa Children's Medical Center; Yokohama Japan

3. Division of Pediatric Neurology; Kanagawa Children's Medical Center; Yokohama Japan

Funder

The Ministry of Health, Labor and Welfare of Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay;Boyes;Eur J Med Genet,2006

2. Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome;Burger;Am J Med Genet,2002

3. Prader-Willi and Angelman syndromes: Genetic counseling;Camprubi;Eur J Hum Genet,2010

4. The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C;Kishore;Science,2006

5. Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23:p12.3);Kurosawa;Congenit Anom (Kyoto),2012

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4. 13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement;Brain and Development;2020-09

5. Leitlinien für die molekulare und zytogenetische Diagnostik bei Prader-Willi-Syndrom und Angelman-Syndrom;Medizinische Genetik;2020-08-01

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