相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Compound heterozygosity for dominant and recessive GJB2 mutations:: Effect on phenotype and review of the literature
Katherine O. Welch et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
Girish V. Putcha et al.
GENETICS IN MEDICINE (2007)
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness
Paola Primignani et al.
LARYNGOSCOPE (2007)
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele
Ellen Wilch et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
GJB2 mutations and degree of hearing loss:: A multicenter study
RL Snoeckx et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf
X Cheng et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
FJ del Castillo et al.
JOURNAL OF MEDICAL GENETICS (2005)
GJB2: The spectrum of deafness-causing allele variants and their phenotype
H Azaiez et al.
HUMAN MUTATION (2004)
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands
A Pandya et al.
GENETICS IN MEDICINE (2003)
A novel dominant missense mutation -: D179N -: in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss
P Primignani et al.
CLINICAL GENETICS (2003)
Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness
HL Hwa et al.
GENETICS IN MEDICINE (2003)
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
A Kenneson et al.
GENETICS IN MEDICINE (2002)
Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss
L Bason et al.
CLINICAL GENETICS (2002)
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
I del Castillo et al.
NEW ENGLAND JOURNAL OF MEDICINE (2002)
Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East
H Shahin et al.
HUMAN GENETICS (2002)
Connexin 26 studies in patients with sensorineural hearing loss
MA Kenna et al.
ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY (2001)
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria
J Löffler et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2001)
High frequency hearing loss correlated with mutations in the GJB2 gene
SA Wilcox et al.
HUMAN GENETICS (2000)
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss
L Morlé et al.
JOURNAL OF MEDICAL GENETICS (2000)
High carrier frequency of the 35delG deafness mutation in European populations
P Gasparini et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
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