Cohen syndrome is associated with major glycosylation defects-Reference-Cited by-同舟云学术

Cohen syndrome is associated with major glycosylation defects

Published:2013-12-13 Issue:9 Volume:23 Page:2391-2399
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Duplomb Laurence,Duvet Sandrine,Picot Damien,Jego Gaëtan,El Chehadeh-Djebbar Salima,Marle Nathalie,Gigot Nadège,Aral Bernard,Carmignac Virginie,Thevenon Julien,Lopez Estelle,Rivière Jean-Baptiste,Klein André,Philippe Christophe,Droin Nathalie,Blair Edward,Girodon François,Donadieu Jean,Bellanné-Chantelot Christine,Delva Laurent,Michalski Jean-Claude,Solary Eric,Faivre Laurence,Foulquier François,Thauvin-Robinet Christel

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/23/9/2391/14143006/ddt630.pdf

Reference23 articles.

1. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies;Cohen;J. Pediatr.,1973

2. Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome;El Chehadeh;J. Med. Genet.,2010

3. Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis;El Chehadeh-Djebbar;Eur. J. Hum. Genet,2012

4. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport;Kolehmainen;Am. J. Hum. Genet.,2003

5. Analysis of the human VPS13 gene family;Velayos-Baeza;Genomics,2004

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1. Exploring the pathological mechanisms underlying Cohen syndrome;Frontiers in Neuroscience;2024-07-01

2. Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN;Molecular Genetics and Genomics;2024-05-21

3. Revisiting the immunopathology of congenital disorders of glycosylation: an updated review;Frontiers in Immunology;2024-03-14

4. Cohen syndrome combined with psychiatric symptoms: a case report;BMC Psychiatry;2024-03-04

5. Cohen syndrome due to a novel stop-gain mutation in VPS13B gene: A case report and comparative study in affected siblings worldwide;2024-02-21