(Q50474925)

English

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.

scientific article published on 8 February 2005

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns. (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

1 reference

based on heuristic

inferred from title

author name string

Tomohiro Oguchi

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

Akihiro Ohtsuka

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

Shigenari Hashimoto

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

Aki Oshima

4

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

Satoko Abe

5

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

Yumiko Kobayashi

6

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

Kyoko Nagai

7

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

Tatsuo Matsunaga

8

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

Satoshi Iwasaki

9

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

Takashi Nakagawa

10

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

Shin-ichi Usami

11

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

publication date

8 February 2005

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

50

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

76-83

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

https://scigraph.springernature.com/pub.10.1007/s10038-004-0223-7

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Two-stage bipodal screening model for universal neonatal hearing screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Successful cochlear implantation in prelingual profound deafness resulting from the common 233delC mutation of the GJB2 gene in the Japanese

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Language of early- and later-identified children with hearing loss.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin 26 Gene Mutations in Congenitally Deaf Children

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalent connexin 26 gene (GJB2) mutations in Japanese

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional study of GJB2 in hereditary hearing loss

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cx26 deafness: mutation analysis and clinical variability

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Morbidity and mortality of dialysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics applied to clinical practice: the Cx26 hearing impairment.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs. Joint Committee on Infant Hearing, American Academy of Audiology, American Academy of Pediatrics, American Speech-Language-Hearing Associa

1 reference

https://pubmed.ncbi.nlm.nih.gov/15700112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-004-0223-7

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/15700112

ResearchGate publication ID

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