(Q48730121)

English

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

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1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. (English)

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

1 reference

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Bai-Lin Wu

1

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

Neal Lindeman

2

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

Va Lip

3

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

Albert Adams

4

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

R Stephen Amato

5

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

Gerald Cox

6

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

Mira Irons

7

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

Margaret Kenna

8

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

Bruce Korf

9

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

Jay Raisen

10

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

Orah Platt

11

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

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publication date

1 July 2002

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

Genetics in Medicine

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

4

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

4

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

279-288

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

https://scigraph.springernature.com/pub.10.1097/00125817-200207000-00006

0 references

Nonsyndromal profound genetic deafness in childhood

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Connexins, connexons, and intercellular communication

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Diverse functions of vertebrate gap junctions

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Connexin mutations in skin disease and hearing loss

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

High carrier frequency of the 35delG deafness mutation in European populations

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

High frequency hearing loss correlated with mutations in the GJB2 gene.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

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/10.1097%2F00125817-200207000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Connexin 26 studies in patients with sensorineural hearing loss.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

The M34T allele variant of connexin 26.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Genetic analysis of the connexin-26 M34T variant

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Connexin 26 gene linked to a dominant deafness

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Connexin 26 Gene Mutations in Congenitally Deaf Children

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200207000-00006

21 January 2018

Identifiers

10.1097/00125817-200207000-00006

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/12172394

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