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Literature DB >> 21407266

Clinical utility gene card for: CHARGE syndrome.

Kim Blake¹, Conny M A van Ravenswaaij-Arts, Lies Hoefsloot, Alain Verloes.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2011 PMID： 21407266 PMCID： PMC3179356 DOI： 10.1038/ejhg.2011.45

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

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17 in total

1. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Authors: Lisenka E L M Vissers; Conny M A van Ravenswaaij; Ronald Admiraal; Jane A Hurst; Bert B A de Vries; Irene M Janssen; Walter A van der Vliet; Erik H L P G Huys; Pieter J de Jong; Ben C J Hamel; Eric F P M Schoenmakers; Han G Brunner; Joris A Veltman; Ad Geurts van Kessel
Journal: Nat Genet Date: 2004-08-08 Impact factor: 38.330

2. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Authors: M C J Jongmans; R J Admiraal; K P van der Donk; L E L M Vissers; A F Baas; L Kapusta; J M van Hagen; D Donnai; T J de Ravel; J A Veltman; A Geurts van Kessel; B B A De Vries; H G Brunner; L H Hoefsloot; C M A van Ravenswaaij
Journal: J Med Genet Date: 2005-09-09 Impact factor: 6.318

3. Updated diagnostic criteria for CHARGE syndrome: a proposal.

Authors: Alain Verloes
Journal: Am J Med Genet A Date: 2005-03-15 Impact factor: 2.802

Review 4. CHARGE association: an update and review for the primary pediatrician.

Authors: K D Blake; S L Davenport; B D Hall; M A Hefner; R A Pagon; M S Williams; A E Lin; J M Graham
Journal: Clin Pediatr (Phila) Date: 1998-03 Impact factor: 1.168

5. A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and a CHARGE-like phenotype.

Authors: D Wieczorek; J Bolt; K Schwechheimer; G Gillessen-Kaesbach
Journal: Am J Med Genet Date: 1997-04-14

6. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study.

Authors: Karina A Issekutz; John M Graham; Chitra Prasad; Isabel M Smith; Kim D Blake
Journal: Am J Med Genet A Date: 2005-03-15 Impact factor: 2.802

7. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Authors: Seema R Lalani; Arsalan M Safiullah; Susan D Fernbach; Karine G Harutyunyan; Christina Thaller; Leif E Peterson; John D McPherson; Richard A Gibbs; Lisa D White; Margaret Hefner; Sandra L H Davenport; John M Graham; Carlos A Bacino; Nancy L Glass; Jeffrey A Towbin; William J Craigen; Steven R Neish; Angela E Lin; John W Belmont
Journal: Am J Hum Genet Date: 2005-12-29 Impact factor: 11.025

Review 8. CHARGE syndrome: an update.

Authors: Damien Sanlaville; Alain Verloes
Journal: Eur J Hum Genet Date: 2007-02-14 Impact factor: 4.246