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注意：仅列出部分参考文献，下载原文获取全部文献信息。Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene
Zdenek Cada et al.
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY (2019)
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population
Simona Poisson Markova et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2018)
Pendred syndrome
Jean-Louis Wemeau et al.
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2017)
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System
Manou Sommen et al.
HUMAN MUTATION (2016)
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients
Simona Markova et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2016)
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics
B. Vona et al.
CLINICAL GENETICS (2015)
Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment
Margit Schraders et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment
Lauren J. Francey et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
A Deleterious Mutation in the LOXHD1 Gene Causes Autosomal Recessive Hearing Loss in Ashkenazi Jews
S. Edvardson et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans
Nicolas Grillet et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents
J. Knijnenburg et al.
JOURNAL OF MEDICAL GENETICS (2009)
Current concepts: Newborn hearing screening - A silent revolution
CC Morton et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2
P Seeman et al.
CLINICAL GENETICS (2006)
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness
P Seeman et al.
CLINICAL GENETICS (2004)
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects:: a multicenter study
I del Castillo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
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