CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia (Q34200505)

31 July 2017

CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia (English)

1 reference

31 July 2017

1 reference

Glenn E Green

1

1 reference

31 July 2017

Farhan S Huq

2

1 reference

31 July 2017

Sarah B Emery

3

1 reference

31 July 2017

Suresh K Mukherji

4

1 reference

31 July 2017

Donna M Martin

5

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31 July 2017

1 September 2014

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31 July 2017

Otology & Neurotology

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31 July 2017

35

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31 July 2017

8

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31 July 2017

1466-1470

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Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Mutation update on the CHD7 gene involved in CHARGE syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Cochlear implantation in Children with CHARGE syndrome: therapeutic decisions and outcomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

CHARGE syndrome: an update

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Multiple mutations in mouse Chd7 provide models for CHARGE syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Temporal bone computed tomography findings in bilateral sensorineural hearing loss

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

CHARGE syndrome: report of 47 cases and review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

CHARGE association: an update and review for the primary pediatrician

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Characterization of the CHD family of proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Congenital anomalies of the inner ear.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Choanal atresia and associated multiple anomalies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Colobomatous Microphthalmia, Heart Disease, Hearing Loss, and Mental Retardation-A Syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

CHD7 gene and non-syndromic cleft lip and palate.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166654

Updated diagnostic criteria for CHARGE syndrome: a proposal

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24979395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Defects in vestibular sensory epithelia and innervation in mice with loss ofChd7 function: Implications for human CHARGE syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24979395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24979395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/MAO.0000000000000260

1 reference

31 July 2017

1 reference

31 July 2017

1 reference