Angelman syndrome caused by deletion: A genotype–phenotype correlation determined by breakpoint-Reference-Cited by-同舟云学术

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Angelman syndrome caused by deletion: A genotype–phenotype correlation determined by breakpoint

Published:2013-07 Issue:1-2 Volume:105 Page:234-239
ISSN:0920-1211
Container-title:Epilepsy Research
language:en
Short-container-title:Epilepsy Research

Author:

Valente Kette D.,Varela Monica Castro,Koiffmann Celia Priszkulnik,Andrade Joaquina Queiroz,Grossmann Rosi,Kok Fernando,Marques-Dias Maria Joaquina

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference18 articles.

1. Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD;Bittel;Genomics,2005

2. The EEG in early diagnosis of the Angelman (happy puppet) syndrome;Boyd;Eur. J. Pediatr.,1988

3. Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15;Buiting;Nat. Genet.,1995

4. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader–Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons;Chai;Am. J. Hum. Genet.,2003

5. Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis;Dan;Neuropediatrics,2003

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1. Epigenetics in rare neurological diseases;Frontiers in Cell and Developmental Biology;2024-07-23

2. Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry;Journal of Clinical Medicine;2024-06-16

3. Stem cell models of Angelman syndrome;Frontiers in Cell and Developmental Biology;2023-10-19

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