Importance of connectivity in the Danube River catchment

2003/07/01 by Arti Pandya, Kathleen S. Arnos, Xia J. Xia +12 · 3 citations
Biochemistry, Genetics and Molecular Biology · Earth and Planetary Sciences · Medicine · Neuroscience · #Audiology #Biology #Cartography #Catchment area #Connexin #Connexins and lens biology #Drainage basin #Environmental science #Gene #Genetics #Geography #Geology #Hearing Loss and Rehabilitation #Hearing loss #Hearing, Cochlea, Tinnitus, Genetics #Hydrology (agriculture) #Marine and environmental studies #Medicine #Mutation #Population #Proband #Water resource management

paper · doi:10.1097/01.gim.0000078026.01140.68

published in Genetics in Medicine 5(4), 142-303 (Elsevier BV)

openalex publication_date 2006/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01

Abstract

GJB2 mutations account for a large proportion of deafness in the US, with certain mutations having a high ethnic predilection. Heterozygotes at the GJB2 locus should be screened for the GJB6 deletion as a cause of deafness. Molecular testing for GJB2 and GJB6 should be offered to all patients with nonsyndromic hearing loss.

Citations

• Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
• A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment
• GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
• A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

Cited by

• GJB6 [wikipedia]