NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions-Reference-Cited by-同舟云学术

NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

Published:2009-03 Issue:3 Volume:149A Page:343-348
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Camprubí Cristina,Guitart Miriam,Gabau Elisabeth,Coll Maria Dolors,Villatoro Sergi,Oltra Silvestre,Roselló Monica,Ferrer Irene,Monfort Sandra,Orellana Carmen,Martínez Francisco

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference33 articles.

1. Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria;Baumer;Hum Genet,1999

2. Subtelomeric trisomy 21q: A new benign chromosomal variant;Bonaglia;Eur J Med Genet,2007

3. 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

4. Epimutations in Prader-Willi and Angelman syndromes: A molecular study of 136 patients with an imprinting defect;Buiting;Am J Hum Genet,2003

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

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1. An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome;Genes;2022-08-14

2. Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis;Nature Communications;2021-11-23

3. Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations;Human Molecular Genetics;2021-02-19

4. A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome;Molecular Genetics & Genomic Medicine;2020-09-05

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