Literature DB >> 11438011

What syndrome is this? CHIME syndrome.

R Sidbury1, A S Paller.   

Abstract

Entities:  

Mesh：

Year:  2001        PMID： 11438011     DOI： 10.1046/j.1525-1470.2001.018003252.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


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  3 in total

1.  Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Authors:  Bobby G Ng; Karl Hackmann; Melanie A Jones; Alexey M Eroshkin; Ping He; Roy Wiliams; Shruti Bhide; Vincent Cantagrel; Joseph G Gleeson; Amy S Paller; Rhonda E Schnur; Sigrid Tinschert; Janice Zunich; Madhuri R Hegde; Hudson H Freeze
Journal:  Am J Hum Genet       Date:  2012-03-22       Impact factor: 11.025

2.  SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

Authors:  Vincent Cantagrel; Dirk J Lefeber; Bobby G Ng; Ziqiang Guan; Jennifer L Silhavy; Stephanie L Bielas; Ludwig Lehle; Hans Hombauer; Maciej Adamowicz; Ewa Swiezewska; Arjan P De Brouwer; Peter Blümel; Jolanta Sykut-Cegielska; Scott Houliston; Dominika Swistun; Bassam R Ali; William B Dobyns; Dusica Babovic-Vuksanovic; Hans van Bokhoven; Ron A Wevers; Christian R H Raetz; Hudson H Freeze; Eva Morava; Lihadh Al-Gazali; Joseph G Gleeson
Journal:  Cell       Date:  2010-07-15       Impact factor: 41.582

3.  Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

Authors:  José Rm Ceroni; Guilherme L Yamamoto; Rachel S Honjo; Chong A Kim; Maria R Passos-Bueno; Débora R Bertola
Journal:  Genet Mol Biol       Date:  2018-02-19       Impact factor: 1.771
  3 in total

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