Literature DB >> 15666308

Updated diagnostic criteria for CHARGE syndrome: a proposal.

Alain Verloes1.   

Abstract

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Year:  2005        PMID： 15666308     DOI： 10.1002/ajmg.a.30559

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  102 in total

Review 1.  Cranial neural crest cells on the move: their roles in craniofacial development.

Authors:  Dwight R Cordero; Samantha Brugmann; Yvonne Chu; Ruchi Bajpai; Maryam Jame; Jill A Helms
Journal:  Am J Med Genet A       Date:  2010-12-10       Impact factor: 2.802

2.  Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

Authors:  Caitlin L Hale; Adrienne N Niederriter; Glenn E Green; Donna M Martin
Journal:  Am J Med Genet A       Date:  2015-11-21       Impact factor: 2.802

3.  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

4.  Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings.

Authors:  A K Morimoto; R H Wiggins; P A Hudgins; G L Hedlund; B Hamilton; S K Mukherji; S A Telian; H R Harnsberger
Journal:  AJNR Am J Neuroradiol       Date:  2006-09       Impact factor: 3.825

5.  Prevalence of genetic testing in CHARGE syndrome.

Authors:  Timothy S Hartshorne; Kasee K Stratton; Conny M A van Ravenswaaij-Arts
Journal:  J Genet Couns       Date:  2010-09-28       Impact factor: 2.537

6.  The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later.

Authors:  Linford A Williams; Shane C Quinonez; Wendy R Uhlmann
Journal:  J Genet Couns       Date:  2017-06-13       Impact factor: 2.537

7.  Congenital diaphragmatic hernia in CHARGE syndrome.

Authors:  G Casaccia; M C Digilio; P L Seymandi; P Bagolan
Journal:  Pediatr Surg Int       Date:  2007-06-19       Impact factor: 1.827

8.  Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome.

Authors:  E Martínez-Quintana; F Rodríguez-González; P Garay-Sánchez; A Tugores
Journal:  Mol Syndromol       Date:  2013-10-04

9.  Guilty as CHARGED: p53's expanding role in disease.

Authors:  Jeanine L Van Nostrand; Laura D Attardi
Journal:  Cell Cycle       Date:  2014       Impact factor: 4.534

10.  Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

Authors:  Flavia Amanda Costa-Barbosa; Ravikumar Balasubramanian; Kimberly W Keefe; Natalie D Shaw; Nada Al-Tassan; Lacey Plummer; Andrew A Dwyer; Cassandra L Buck; Jin-Ho Choi; Stephanie B Seminara; Richard Quinton; Dorota Monies; Brian Meyer; Janet E Hall; Nelly Pitteloud; William F Crowley
Journal:  J Clin Endocrinol Metab       Date:  2013-03-26       Impact factor: 5.958
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