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Literature DB >> 11934905

Hearing loss and connexin 26.

Martijn H Kemperman¹, Lies H Hoefsloot, Cor W R J Cremers.

Abstract

Entities: Chemical

Mesh：

Substances：
Connexins
Connexin 26

Year: 2002 PMID： 11934905 PMCID： PMC1279509 DOI： 10.1177/014107680209500403

Source DB: PubMed Journal: J R Soc Med ISSN： 0141-0768 Impact factor: 18.000

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20 in total

1. Relation between choice of partner and high frequency of connexin-26 deafness.

Authors: W E Nance; X Z Liu; A Pandya
Journal: Lancet Date: 2000-08-05 Impact factor: 79.321

Review 2. Deafness genes: expressions of surprise.

Authors: K P Steel; T J Bussoli
Journal: Trends Genet Date: 1999-06 Impact factor: 11.639

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

Authors: S A Wilcox; K Saunders; A H Osborn; A Arnold; J Wunderlich; T Kelly; V Collins; L J Wilcox; R J McKinlay Gardner; M Kamarinos; B Cone-Wesson; R Williamson; H H Dahl
Journal: Hum Genet Date: 2000-04 Impact factor: 4.132

Review 4. Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.

Authors: E S Cohn; P M Kelley
Journal: Am J Med Genet Date: 1999-09-24

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

Authors: F Denoyelle; S Marlin; D Weil; L Moatti; P Chauvin; E N Garabédian; C Petit
Journal: Lancet Date: 1999-04-17 Impact factor: 79.321

6. Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.

Authors: S Marlin; E N Garabédian; G Roger; L Moatti; N Matha; P Lewin; C Petit; F Denoyelle
Journal: Arch Otolaryngol Head Neck Surg Date: 2001-08

Review 7. Connexin 26: required for normal auditory function.

Authors: P M Kelley; E Cohn; W J Kimberling
Journal: Brain Res Brain Res Rev Date: 2000-04

8. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.

Authors: P Gasparini; R Rabionet; G Barbujani; S Melçhionda; M Petersen; K Brøndum-Nielsen; A Metspalu; E Oitmaa; M Pisano; P Fortina; L Zelante; X Estivill
Journal: Eur J Hum Genet Date: 2000-01 Impact factor: 4.246

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

Authors: R J Morell; H J Kim; L J Hood; L Goforth; K Friderici; R Fisher; G Van Camp; C I Berlin; C Oddoux; H Ostrer; B Keats; T B Friedman
Journal: N Engl J Med Date: 1998-11-19 Impact factor: 91.245

10. Hearing disorders in childhood, some procedures for detection, identification and diagnostic evaluation.

Authors: A Parving
Journal: Int J Pediatr Otorhinolaryngol Date: 1985-06 Impact factor: 1.675

11 in total

Review 1. The Role of the World Health Organization's International Classification of Functioning, Health and Disability in Models of Infant Cochlear Implant Management.

Authors: Colleen Psarros; Sarah Love
Journal: Semin Hear Date: 2016-08

Review 2. Bridging the gap: Super-resolution microscopy of epithelial cell junctions.

Authors: Emily I Bartle; Tejeshwar C Rao; Tara M Urner; Alexa L Mattheyses
Journal: Tissue Barriers Date: 2018-02-08

3. Auditory Detection Thresholds and Cochlear Resistivity Differ Between Pediatric Cochlear Implant Listeners With Enlarged Vestibular Aqueduct and Those With Connexin-26 Mutations.

Authors: Kelly N Jahn; Molly D Bergan; Julie G Arenberg
Journal: Am J Audiol Date: 2020-01-14 Impact factor: 1.493

Hearing loss and connexin 26.

1. Relation between choice of partner and high frequency of connexin-26 deafness.

Review 2. Deafness genes: expressions of surprise.

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

Review 4. Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.

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

6. Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.

Review 7. Connexin 26: required for normal auditory function.

8. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.

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

10. Hearing disorders in childhood, some procedures for detection, identification and diagnostic evaluation.

Review 1. The Role of the World Health Organization's International Classification of Functioning, Health and Disability in Models of Infant Cochlear Implant Management.

Review 2. Bridging the gap: Super-resolution microscopy of epithelial cell junctions.

3. Auditory Detection Thresholds and Cochlear Resistivity Differ Between Pediatric Cochlear Implant Listeners With Enlarged Vestibular Aqueduct and Those With Connexin-26 Mutations.

Review 4. New treatment options for hearing loss.

Review 5. Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL).

6. Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.

7. Newborn hearing screening: present scenario.

8. A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss.

Review 9. Cochlear Proteins Associated with Noise-induced Hearing Loss: An Update.

10. Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.