Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
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Molecular epidemiology of DFNB1 deafness in FranceHigh frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.The future role of genetic screening to detect newborns at risk of childhood-onset hearing lossGenetics of hearing and deafnessUtilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi ArabiaPendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlationsFrequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probandsGJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE reviewConnexin 26 mutations in autosomal recessive deafness disorders: a reviewRelevance of connexin deafness (DFNB1) to human evolution.Rare variants create synthetic genome-wide associationsACEMg Diet Supplement Modifies Progression of Hereditary Deafness.Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study.Universal newborn hearing screening in 2010.Modifiers of hearing impairment in humans and mice.Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.A genotype-phenotype correlation for GJB2 (connexin 26) deafness.Hereditary non-syndromic sensorineural hearing loss: transforming silence to soundA next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genesCharacterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.Temporal bone histopathology in connexin 26-related hearing loss.Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.DNA sequence analysis of SLC26A5, encoding prestin, in a patient-control cohort: identification of fourteen novel DNA sequence variationsFactors influencing parental decision about genetics evaluation for their deaf or hard-of-hearing child.Interpretation of association signals and identification of causal variants from genome-wide association studiesAutosomal recessive nonsyndromic hearing loss.Deaf adults' reasons for genetic testing depend on cultural affiliation: results from a prospective, longitudinal genetic counseling and testing study.GJB2 mutations and degree of hearing loss: a multicenter study.Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment.Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.GJB2 gene mutations in childhood deafness.Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.Temporal bone abnormalities in children with GJB2 mutationsAbsence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.Genetic screening for hearing loss.Mechanism for modulation of gating of connexin26-containing channels by taurine.Performance of cochlear implant recipients with GJB2-related deafness.
P2860
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P2860
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Carrier rates in the midwester ...... ns causing inherited deafness.
@en
Carrier rates in the midwester ...... ns causing inherited deafness.
@nl
type
label
Carrier rates in the midwester ...... ns causing inherited deafness.
@en
Carrier rates in the midwester ...... ns causing inherited deafness.
@nl
prefLabel
Carrier rates in the midwester ...... ns causing inherited deafness.
@en
Carrier rates in the midwester ...... ns causing inherited deafness.
@nl
P2093
P356
P1476
Carrier rates in the midwester ...... ons causing inherited deafness
@en
P2093
G G Woodworth
J M McDonald
P304
P356
10.1001/JAMA.281.23.2211
P407
P577
1999-06-01T00:00:00Z