Literature DB >> 25689928

Clinical utility gene card for: CHARGE syndrome - update 2015.

Conny M A van Ravenswaaij-Arts1, Kim Blake2, Lies Hoefsloot3, Alain Verloes4.   

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Year:  2015        PMID： 25689928      PMCID： PMC4613487          DOI： 10.1038/ejhg.2015.15

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


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  20 in total

1.  A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

Authors:  Jorieke E H Bergman; Nicole Janssen; Almer M van der Sloot; Hermien E K de Walle; Jeroen Schoots; Nanna D Rendtorff; Lisbeth Tranebjaerg; Lies H Hoefsloot; Conny M A van Ravenswaaij-Arts; Robert M W Hofstra
Journal:  Hum Mutat       Date:  2012-05-11       Impact factor: 4.878

2.  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

3.  Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype.

Authors:  Josephine Wincent; Astrid Schulze; Jacqueline Schoumans
Journal:  Eur J Med Genet       Date:  2009-02-25       Impact factor: 2.708

4.  Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

Authors:  Jorieke E H Bergman; Gianni Bocca; Lies H Hoefsloot; Linda C Meiners; Conny M A van Ravenswaaij-Arts
Journal:  J Pediatr       Date:  2011-03       Impact factor: 4.406

5.  Mutations in the CHD7 gene: the experience of a commercial laboratory.

Authors:  Cynthia F Bartels; Cheryl Scacheri; Lashonda White; Peter C Scacheri; Sherri Bale
Journal:  Genet Test Mol Biomarkers       Date:  2010-12

6.  Feeding difficulties in children with CHARGE syndrome: prevalence, risk factors, and prognosis.

Authors:  Cindy Dobbelsteyn; Sean D Peacocke; Kim Blake; William Crist; Mohsin Rashid
Journal:  Dysphagia       Date:  2007-11-20       Impact factor: 3.438

7.  Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

Authors:  Jorieke E H Bergman; Ilse de Wijs; Marjolijn C J Jongmans; Ronald J Admiraal; Lies H Hoefsloot; Conny M A van Ravenswaaij-Arts
Journal:  Eur J Med Genet       Date:  2008-04-04       Impact factor: 2.708

8.  Risk factors for poor bone health in adolescents and adults with CHARGE syndrome.

Authors:  Karen E Forward; Elizabeth A Cummings; Kim D Blake
Journal:  Am J Med Genet A       Date:  2007-04-15       Impact factor: 2.802

9.  Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Authors:  Hyung-Goo Kim; Ingo Kurth; Fei Lan; Irene Meliciani; Wolfgang Wenzel; Soo Hyun Eom; Gil Bu Kang; Georg Rosenberger; Mustafa Tekin; Metin Ozata; David P Bick; Richard J Sherins; Steven L Walker; Yang Shi; James F Gusella; Lawrence C Layman
Journal:  Am J Hum Genet       Date:  2008-10-02       Impact factor: 11.025

10.  CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

Authors:  M C J Jongmans; C M A van Ravenswaaij-Arts; N Pitteloud; T Ogata; N Sato; H L Claahsen-van der Grinten; K van der Donk; S Seminara; J E H Bergman; H G Brunner; W F Crowley; L H Hoefsloot
Journal:  Clin Genet       Date:  2008-11-17       Impact factor: 4.438
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  5 in total

1.  Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.

Authors:  Catherine Bélanger; Félix-Antoine Bérubé-Simard; Elizabeth Leduc; Guillaume Bernas; Philippe M Campeau; Seema R Lalani; Donna M Martin; Stephanie Bielas; Amanda Moccia; Anshika Srivastava; David W Silversides; Nicolas Pilon
Journal:  Proc Natl Acad Sci U S A       Date:  2018-01-08       Impact factor: 11.205

2.  Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.

Authors:  Maria I Stamou; Harrison Brand; Mei Wang; Isaac Wong; Margaret F Lippincott; Lacey Plummer; William F Crowley; Michael Talkowski; Stephanie Seminara; Ravikumar Balasubramanian
Journal:  J Clin Endocrinol Metab       Date:  2022-07-14       Impact factor: 6.134

Review 3.  Reproductive endocrine phenotypes relating to CHD7 mutations in humans.

Authors:  Ravikumar Balasubramanian; William F Crowley
Journal:  Am J Med Genet C Semin Med Genet       Date:  2017-11-20       Impact factor: 3.908

4.  A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.

Authors:  Maria Francesca Bedeschi; Beatrice Letizia Crippa; Lorenzo Colombo; Martina Buscemi; Cesare Rossi; Roberta Villa; Silvana Gangi; Odoardo Picciolini; Claudia Cinnante; Viola Giulia Carlina Fergnani; Paola Francesca Ajmone; Elisa Scola; Fabio Triulzi; Fabio Mosca
Journal:  Ital J Pediatr       Date:  2020-04-23       Impact factor: 2.638

5.  Newly Emerging Feeding Difficulties in a 33-Year-Old Adult With CHARGE Syndrome.

Authors:  Alexandra Hudson; Kim Blake
Journal:  J Clin Med Res       Date:  2015-12-03
  5 in total

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