Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome-Reference-Cited by-同舟云学术

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

Published:2008-09 Issue:5 Volume:51 Page:417-425
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Bergman Jorieke E.H.,de Wijs Ilse,Jongmans Marjolijn C.J.,Admiraal Ronald J.,Hoefsloot Lies H.,van Ravenswaaij-Arts Conny M.A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference17 articles.

1. Temporal bone CT findings in the CHARGE association;Admiraal;Int. J. Pediatr. Otorhinolaryngol.,1998

2. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome;Amiel;Am. J. Med. Genet.,2001

3. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations;Aramaki;J. Pediatr.,2006

4. Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association;Arrington;Am. J. Med. Genet. A,2005

5. CHARGE association: an update and review for the primary pediatrician;Blake;Clin. Pediatr. (Phila),1998

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1. Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis;American Journal of Medical Genetics Part A;2024-04-10

2. Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism;The Journal of Clinical Endocrinology & Metabolism;2022-05-16

3. CHARGE syndrome‐associated proteins FAM172A and CHD7 influence male sex determination and differentiation through transcriptional and alternative splicing mechanisms;The FASEB Journal;2022-02-07

4. Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort;The Journal of Clinical Endocrinology & Metabolism;2019-11-05

5. CHARGE Syndrome;Obstetric Imaging: Fetal Diagnosis and Care;2018

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