Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
Yang Y et al.
Bmc Urology, 2022
The genetic basis of deafness in populations of African descent.
Rudman JR et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2017
Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.
Kabahuma RI et al.
International Journal of Pediatric Otorhinolaryngology, 2011
Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.
Chinetti V et al.
International Journal of Audiology, 2010
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Putcha GV et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
Gardner P et al.
Pediatrics, 2006
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL et al.
American Journal of Human Genetics, 2005
A diagnostic paradigm for childhood idiopathic sensorineural hearing loss.
Preciado DA et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2004
Guidelines and recommendations for testing of Cx26 mutations and interpretation of results.
Mazzoli M et al.
International Journal of Pediatric Otorhinolaryngology, 2004
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
Cryns K et al.
Journal of Medical Genetics, 2004
Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.
Gasmelseed NMA et al.
Human Mutation, 2004
First report of prenatal diagnosis of genetic congenital deafness in a routine prenatal genetic test.
Santoro ML et al.
Prenatal Diagnosis, 2003
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Ohtsuka A et al.
Human Genetics, 2003
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
Hamelmann C et al.
Human Mutation, 2001
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
Rabionet R et al.
Human Mutation, 2000
Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.
Fuse Y et al.
Neuroreport, 1999
Connexin-26 mutations in sporadic and inherited sensorineural deafness.
Estivill X et al.
Lancet (london, England), 1998
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
Kenneson A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0