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。Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria
Adebolajo Adeyemo et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2022)
A common founder effect of the splice site variant c.-23+1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia
Aisen Solovyev et al.
HUMAN GENETICS (2022)
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss
Shin-ya Nishio et al.
HUMAN GENETICS (2022)
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants
Minna Kraatari-Tiri et al.
JOURNAL OF CLINICAL MEDICINE (2022)
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes
Ambroise Wonkam et al.
COMMUNICATIONS BIOLOGY (2022)
GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal
Yacouba Dia et al.
BIOLOGY-BASEL (2022)
Age Estimate of GJB2-p.(Arg143Trp) Founder Variant in Hearing Impairment in Ghana, Suggests Multiple Independent Origins across Populations
Elvis Twumasi Aboagye et al.
BIOLOGY-BASEL (2022)
Evolutionary history of sickle-cell mutation: implications for global genetic medicine
Kevin Esoh et al.
HUMAN MOLECULAR GENETICS (2021)
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population
Khushnooda Ramzan et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2020)
Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?
Jun Shinagawa et al.
GENES (2020)
High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect
Marina Zytsar et al.
GENES (2020)
DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?
Kevin T. Booth et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon
Ambroise Wonkam et al.
HUMAN MOLECULAR GENETICS (2020)
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans
Sang-Yeon Lee et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana
Samuel M. Adadey et al.
FRONTIERS IN GENETICS (2019)
A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report
Walaa Kamal Eldin Mohamed et al.
FRONTIERS IN GENETICS (2019)
Updated carrier rates for c.35deIG (GJB2) associated with hearing loss in Russia and common c.35deIG haplotypes in Siberia
Marina V. Zytsar et al.
BMC MEDICAL GENETICS (2018)
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect
Justin A. Pater et al.
HUMAN GENETICS (2017)
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman
Flavia Palombo et al.
JOURNAL OF HUMAN GENETICS (2017)
Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions
Elena A. Bliznetz et al.
JOURNAL OF HUMAN GENETICS (2017)
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population
Xue Gao et al.
NEURAL PLASTICITY (2017)
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes
Francisco J. del Castillo et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2017)
A Mayan founder mutation is a common cause of deafness in Guatemala
C. Carranza et al.
CLINICAL GENETICS (2016)
Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil
Gabrielle N. Manzoli et al.
ANNALS OF HUMAN GENETICS (2016)
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population
Violeta Mikstiene et al.
BMC GENETICS (2016)
Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review
Keita Tsukada et al.
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY (2015)
Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool
Zahra N. Sohani et al.
BMC GENETICS (2015)
Old meets new: identifying founder mutations in genetic disease
Jane A. Evans
CANADIAN MEDICAL ASSOCIATION JOURNAL (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population
So Young Kim et al.
JOURNAL OF TRANSLATIONAL MEDICINE (2015)
Cellular and deafness mechanisms underlying connexin mutation-induced hearing loss - a common hereditary deafness
Jeffrey C. Wingard et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2015)
A DFNA5 Mutation Identified in Japanese Families with Autosomal Dominant Hereditary Hearing Loss
Ayako Nishio et al.
ANNALS OF HUMAN GENETICS (2014)
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation
Juyong Chung et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2014)
A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect
Elham Davoudi-Dehaghani et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2013)
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population
Zil-e-Huma Bashir et al.
JOURNAL OF HUMAN GENETICS (2013)
Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation
Takehiko Naito et al.
PLOS ONE (2013)
A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population
Jessica X. Chong et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel
G. Borck et al.
CLINICAL GENETICS (2012)
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy
T. Matsunaga et al.
CLINICAL GENETICS (2012)
The Common TMC1 Mutation c.100C>T (p.Arg34X) Is Not a Significant Cause of Deafness in British Asians
Claire Searle et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2012)
Assessing risk of bias in prevalence studies: modification of an existing tool and evidence of interrater agreement
Damian Hoy et al.
JOURNAL OF CLINICAL EPIDEMIOLOGY (2012)
Two Iranian Families With a Novel Mutation in GJB2 Causing Autosomal Dominant Nonsyndromic Hearing Loss
Niloofar Bazazzadegan et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Did the GJB2 35delG Mutation Originate in Iran?
Vahideh Norouzi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Prevalence of IVS1+1G>A mutation among Iranian Azeri Turkish patients with autosomal recessive non-syndromic hearing loss (ARNSHL)
Mortaza Bonyadi et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2011)
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect
Nikolay A. Barashkov et al.
JOURNAL OF HUMAN GENETICS (2011)
Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26
Junxian Zhang et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2011)
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families
Zippora Brownstein et al.
GENOME BIOLOGY (2011)
GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf
Mustafa Tekin et al.
ANNALS OF HUMAN GENETICS (2010)
Audiologic Phenotype and Progression in GJB2 (Connexin 26) Hearing Loss
Margaret A. Kenna et al.
ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY (2010)
High Frequency of the p.R34X Mutation in the TMC1 Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects
Mariem Ben Said et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2010)
Evidence for a founder mutation causing DFNA5 hearing loss in East Asians
Hong-Joon Park et al.
JOURNAL OF HUMAN GENETICS (2010)
Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia
Lilya U. Dzhemileva et al.
JOURNAL OF HUMAN GENETICS (2010)
A de novo GJB2 (Connexin 26) Mutation, R75W, in a Chinese Pedigree With Hearing Loss and Palmoplantar Keratoderma
Yongyi Yuan et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia
A. Sirmaci et al.
CLINICAL GENETICS (2009)
High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India
Anu Yamuna Joseph et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2009)
High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss
G. Khandelwal et al.
JOURNAL OF LARYNGOLOGY AND OTOLOGY (2009)
Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?
Nele Hilgert et al.
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH (2009)
Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement
David Moher et al.
PLOS MEDICINE (2009)
Strong Linkage Disequilibrium for the Frequent GJB2 35delG Mutation in the Greek Population
Haris Kokotas et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population
Omar Abidi et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2008)
Cellular characterization of Connexin26 and Connnexin30 expression in the cochlear lateral wall
Ying-Peng Liu et al.
CELL AND TISSUE RESEARCH (2008)
Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population
Y. Bajaj et al.
CLINICAL OTOLARYNGOLOGY (2008)
SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss
Pu Dai et al.
GENETICS IN MEDICINE (2008)
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general gypsy population and individual subisolates
Sonja Bouwer et al.
GENETIC TESTING (2007)
Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel
Lina Basel-Vanagaite et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population
Asli Sirmaci et al.
JOURNAL OF GENETICS (2006)
Pathogenetic role of the deafness-related M34T mutation of Cx26
Massimiliano Bicego et al.
HUMAN MOLECULAR GENETICS (2006)
GJB2 mutations and degree of hearing loss:: A multicenter study
RL Snoeckx et al.
AMERICAN JOURNAL OF HUMAN GENETICS (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)
Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia:: A unique spectrum of mutations in Taiwan, including a frequent founder mutation
CC Wu et al.
LARYNGOSCOPE (2005)
First molecular screening of deafness in the Altai Republic population
O Posukh et al.
BMC MEDICAL GENETICS (2005)
Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia
M Tekin et al.
CLINICAL GENETICS (2005)
Hereditary non-syndromic sensorineural hearing loss - Transforming silence to sound
I Schrijver
JOURNAL OF MOLECULAR DIAGNOSTICS (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)
GJB2 mutations in the swiss hearing impaired
N Gürtler et al.
EAR AND HEARING (2003)
Spectrum of GJB2 Mutations in Turkey Comprises Both Caucasian and Oriental Variants: Roles of Parental Consanguinity and Assortative Mating
Mustafa Tekin et al.
HUMAN MUTATION (2003)
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians:: global implications for the epidemiology of deafness
HJ Park et al.
JOURNAL OF MEDICAL GENETICS (2003)
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation
A Ohtsuka et al.
HUMAN GENETICS (2003)
The application of molecular genetic approaches to the study of human evolution
LL Cavalli-Sforza et al.
NATURE GENETICS (2003)
Functional analysis of connexin-26 mutants associated with hereditary recessive deafness
HL Wang et al.
JOURNAL OF NEUROCHEMISTRY (2003)
A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family
CA Yu et al.
GENOMICS (2003)
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians
D Yan et al.
HUMAN GENETICS (2003)
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese
K Tsukamoto et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2003)
Selection for deafness?
CG Meyer et al.
NATURE MEDICINE (2002)
The prevalence of connexin 26 (GJB2) mutations in the Chinese population
XZ Liu et al.
HUMAN GENETICS (2002)
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations -: phenotypic spectrum and frequencies of GJB2 mutations in Austria
AR Janecke et al.
HUMAN GENETICS (2002)
Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death
M Cohen-Salmon et al.
CURRENT BIOLOGY (2002)
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
A Kenneson et al.
GENETICS IN MEDICINE (2002)
Connexin 26 mutations in cases of sensorineural deafness in eastern Austria
K Frei et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2002)
DMLE+: Bayesian linkage disequilibrium gene mapping
JP Reeve et al.
BIOINFORMATICS (2002)
Genetics of population isolates
M Arcos-Burgos et al.
CLINICAL GENETICS (2002)
A common founder for the 35deIG GJB2 gene mutation in connexin 26 hearing impairment
L Van Laer et al.
JOURNAL OF MEDICAL GENETICS (2001)
Relation between choice of partner and high frequency of cannexin-26 deafness
WE Nance et al.
LANCET (2000)
High carrier frequency of the 35delG deafness mutation in European populations
P Gasparini et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
Prevalent connexin 26 gene (GJB2) mutations in Japanese
S Abe et al.
JOURNAL OF MEDICAL GENETICS (2000)
分享论文
