Genetic screening for deafness. (Q35155570)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12809325 AND SRC:MED&resulttype=core&format=json

4 November 2019

review article

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title

Genetic screening for deafness (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12809325 AND SRC:MED&resulttype=core&format=json

4 November 2019

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1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12809325 AND SRC:MED&resulttype=core&format=json

4 November 2019

author name string

Stephen Hone

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12809325 AND SRC:MED&resulttype=core&format=json

4 November 2019

publication date

1 April 2003

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12809325 AND SRC:MED&resulttype=core&format=json

Pediatric Clinics of North America

4 November 2019

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12809325 AND SRC:MED&resulttype=core&format=json

4 November 2019

volume

50

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12809325 AND SRC:MED&resulttype=core&format=json

4 November 2019

issue

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12809325 AND SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

315-329

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12809325 AND SRC:MED&resulttype=core&format=json

Universal Infant Hearing Screening by Automated Auditory Brainstem Response Measurement

4 November 2019

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7 January 2021

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A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

7 January 2021

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

7 January 2021

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Isolation and characterization of gap junctions from tissue culture cells

7 January 2021

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Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness

7 January 2021

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

7 January 2021

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Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

7 January 2021

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Prevalent connexin 26 gene (GJB2) mutations in Japanese

7 January 2021

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Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

7 January 2021

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Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

7 January 2021

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Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings

7 January 2021

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The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population

7 January 2021

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Genetic testing to identify deaf newborns

7 January 2021

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Connexin-26 mutations in sporadic and inherited sensorineural deafness

7 January 2021

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Connexin 26 studies in patients with sensorineural hearing loss

7 January 2021

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High frequency hearing loss correlated with mutations in the GJB2 gene

7 January 2021

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The effects of a connexin 26 mutation--35delG--on oto-acoustic emissions and brainstem evoked potentials: homozygotes and carriers

7 January 2021

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

7 January 2021

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Connexin 26 gene linked to a dominant deafness

7 January 2021

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A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

7 January 2021

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Connexin mutations in skin disease and hearing loss

7 January 2021

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Better speech performance in cochlear implant patients with GJB2-related deafness

7 January 2021

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Performance of cochlear implant recipients with GJB2-related deafness

7 January 2021

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7 January 2021

DEAF-MUTISM AND GOITRE

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Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients

7 January 2021

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Radiological malformations of the ear in Pendred syndrome

7 January 2021

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Association of congenital deafness with goitre; the nature of the thyroid defect

7 January 2021

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Thyroid function in patients with Pendred's syndrome

7 January 2021

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Two Chinese families with Pendred's syndrome--radiological imaging of the ear and molecular analysis of the pendrin gene

7 January 2021

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Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification

7 January 2021

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Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

7 January 2021

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The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q

7 January 2021

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Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage

7 January 2021

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Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425

7 January 2021

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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

7 January 2021

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Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

7 January 2021

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A mutation in PDS causes non-syndromic recessive deafness

7 January 2021

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Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

7 January 2021

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Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

7 January 2021

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Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation

7 January 2021

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Autosomal dominant non-syndromal low-frequency sensorineural hearing impairment linked to chromosome 4p16 (DFNA14): statistical analysis of hearing threshold in relation to age and evaluation of vestibulo-ocular functions.

7 January 2021

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Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

7 January 2021

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Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

7 January 2021

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7 January 2021

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Psychiatric findings in Wolfram syndrome homozygotes

7 January 2021

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Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1

7 January 2021

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Genetic counseling of the deaf. Medical and cultural considerations

7 January 2021

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Attitudes of deaf adults toward genetic testing for hereditary deafness

7 January 2021

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Genetic testing and genetic counseling for deafness: the future is here

7 January 2021

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Parental attitudes toward genetic testing for pediatric deafness

7 January 2021

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Stigmatization of carrier status: social implications of heterozygote genetic screening programs

7 January 2021

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10.1016/S0031-3955(03)00026-9

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12809325 AND SRC:MED&resulttype=core&format=json

4 November 2019

1 reference