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Genetics of congenital hearing impairment: a clinical approach.

Genetics of congenital hearing impairment: a clinical approach.

http://www.wikidata.org/entity/Q37280853

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Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.Connexin-26 mutations in deafness and skin disease.DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland.Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening.Causes of hearing impairment in the Norwegian paediatric cochlear implant program.A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants.

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Genetics of congenital hearing impairment: a clinical approach.

http://www.wikidata.org/entity/Q37280853

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on September 2008

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

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name

Genetics of congenital hearing impairment: a clinical approach.

@en

Genetics of congenital hearing impairment: a clinical approach.

@nl

type

label

Genetics of congenital hearing impairment: a clinical approach.

@en

Genetics of congenital hearing impairment: a clinical approach.

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prefLabel

Genetics of congenital hearing impairment: a clinical approach.

@en

Genetics of congenital hearing impairment: a clinical approach.

@nl

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14992020802249259

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International Journal of Audiology

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Genetics of congenital hearing impairment: a clinical approach.

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Lisbeth Tranebaerg

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P2860

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement

The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.

Hearing molecules: contributions from genetic deafness.

Aetiological investigations of hearing loss in childhood: a review.

GJB2 mutations and degree of hearing loss: a multicenter study.

Hereditary deafness and phenotyping in humans.

Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.

Non-syndromic autosomal-dominant deafness.

Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients.

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535-545

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scholarly article

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10.1080/14992020802249259

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2008-09-01T00:00:00Z

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18821222

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