Angelman syndrome caused by an identical familial 1,487-kb deletion-Reference-Cited by-同舟云学术

Angelman syndrome caused by an identical familial 1,487-kb deletion

Published:2007-01-01 Issue:1 Volume:143A Page:98-101
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Sato Kanako,Iwakoshi Mie,Shimokawa Osamu,Sakai Haruya,Ohta Tohru,Saitoh Shinji,Miyake Noriko,Niikawa Norio,Harada Naoki,Saitsu Hirotomo,Mizuguchi Takeshi,Matsumoto Naomichi

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye

2. Familial interstitial 570 kbp deletion of theUBE3Agene region causing Angelman syndrome but not Prader-Willi syndrome

3. Angelman syndrome associated with a maternal 15q11–13 deletion of less than 200 kb

4. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

5. Large genomic duplicons map to sites of instability in the Prader- Willi/Angelman syndrome chromosome region (15q11-q13)

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2. Angelman syndrome;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020

3. Leitlinien für die molekulare und zytogenetische Diagnostik bei Prader-Willi-Syndrom und Angelman-Syndrom;Medizinische Genetik;2016-11-18

4. Angelman syndrome — insights into a rare neurogenetic disorder;Nature Reviews Neurology;2016-09-12

5. Developmental Delay: Gene Testing;Molecular Pathology in Clinical Practice;2016