Literature DB >> 24548020

CHARGE syndrome: a review.

Peter Hsu1, Alan Ma, Meredith Wilson, George Williams, John Curotta, Craig F Munns, Sam Mehr.   

Abstract

CHARGE syndrome is a complex genetic syndrome, owing to the wide range of tissues/systems affected by mutations in the CHD7 gene. In this review, we discuss the diagnosis, clinical features and management of CHARGE syndrome.
© 2014 The Authors. Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

Entities:  

Keywords:  ENT; behavioural; endocrinology; genetics; immunology

Mesh：

Substances：

Year:  2014        PMID： 24548020     DOI： 10.1111/jpc.12497

Source DB:  PubMed          Journal:  J Paediatr Child Health        ISSN： 1034-4810            Impact factor:   1.954


  36 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.  Chromodomain Helicase DNA-Binding Protein 7 Is Suppressed in the Perinecrotic/Ischemic Microenvironment and Is a Novel Regulator of Glioblastoma Angiogenesis.

Authors:  Nathaniel H Boyd; Kiera Walker; Adetokunbo Ayokanmbi; Emily R Gordon; Julia Whetsel; Cynthia M Smith; Richard G Sanchez; Farah D Lubin; Asmi Chakraborty; Anh Nhat Tran; Cameron Herting; Dolores Hambardzumyan; G Yancey Gillespie; James R Hackney; Sara J Cooper; Kai Jiao; Anita B Hjelmeland
Journal:  Stem Cells       Date:  2019-01-24       Impact factor: 6.277

3.  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

4.  Diversity in primary palate ontogeny of amniotes revealed with 3D imaging.

Authors:  John Abramyan; Beatrice Thivichon-Prince; Joy Marion Richman
Journal:  J Anat       Date:  2015-04-22       Impact factor: 2.610

Review 5.  Hearing loss and renal syndromes.

Authors:  Paul J Phelan; Michelle N Rheault
Journal:  Pediatr Nephrol       Date:  2017-11-12       Impact factor: 3.714

Review 6.  Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.

Authors:  Soma Jyonouchi; Artemio M Jongco; Jennifer Puck; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2017-03-28       Impact factor: 8.317

7.  Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.

Authors:  Heather A Stiff; Christina M Sloan-Heggen; Ashley Ko; Wanda L Pfeifer; Diana L Kolbe; Carla J Nishimura; Kathy L Frees; Kevin T Booth; Donghong Wang; Amy E Weaver; Hela Azaiez; John Kamholz; Richard J H Smith; Arlene V Drack
Journal:  Ophthalmic Genet       Date:  2020-04-13       Impact factor: 1.803

8.  CHD7 regulates cardiovascular development through ATP-dependent and -independent activities.

Authors:  Shun Yan; Rassarin Thienthanasit; Dongquan Chen; Erik Engelen; Joanna Brühl; David K Crossman; Robert Kesterson; Qin Wang; Karim Bouazoune; Kai Jiao
Journal:  Proc Natl Acad Sci U S A       Date:  2020-10-30       Impact factor: 11.205

Review 9.  Neural crest contributions to the ear: Implications for congenital hearing disorders.

Authors:  K Elaine Ritter; Donna M Martin
Journal:  Hear Res       Date:  2018-11-14       Impact factor: 3.208

10.  Immunodeficiency associated with a nonsense mutation of IKBKB.

Authors:  Christian Nielsen; Marianne A Jakobsen; Martin Jakob Larsen; Amanda C Müller; Soren Hansen; Søren T Lillevang; Niels Fisker; Torben Barington
Journal:  J Clin Immunol       Date:  2014-09-14       Impact factor: 8.317
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