(Q50470745)

English

Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders.

scientific article published in November 2005

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/16145690

Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders. (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/16145690

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

autosomal recessive disease

1 reference

based on heuristic

inferred from title

author name string

William J Kimberling

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/16145690

publication date

1 November 2005

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/16145690

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/16145690

26

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/16145690

5

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/16145690

462-470

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/16145690

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

1 reference

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7 January 2021

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Usher syndrome: definition and estimate of prevalence from two high-risk populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

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Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

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Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

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Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

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The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

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Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana

1 reference

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A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

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Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic heterogeneity in Usher syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic heterogeneity of Usher syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

Usher syndrome: from genetics to pathogenesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular diagnosis of deafness: impact of gene identification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20221

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20221

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/16145690

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/16145690

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