In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes

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In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1089/OMI.2013.0166
P932PMC publication ID4086242
P698PubMed publication ID24785695
P5875ResearchGate publication ID262016503

P50authorCollet DandaraQ42252920
Jason BoschQ58333217
Ambroise WonkamQ61162947
P2093author name stringKamogelo Lebeko
Jean Jacques Noubiap Nziale
Nomlindo Makubalo
P2860cites workThe genetic structure and history of Africans and African AmericansQ22065887
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Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasiaQ24610890
A method and server for predicting damaging missense mutationsQ27860835
A deletion involving the connexin 30 gene in nonsyndromic hearing impairmentQ28216378
The need for universal neonatal hearing screening--some aspects of epidemiology and identificationQ33812084
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter studyQ33905363
Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlationQ34123564
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing lossQ34203606
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.Q34397126
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing lossQ34505663
Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African populationQ34999808
Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse modelsQ35573969
Connexin43 mutation causes heterogeneous gap junction loss and sudden infant deathQ35904761
Early hearing detection and intervention in South Africa.Q37383854
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotypeQ37429017
Global and regional hearing impairment prevalence: an analysis of 42 studies in 29 countriesQ37971242
GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotypeQ38125413
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Place of birth and characteristics of infants with congenital and early-onset hearing loss in a developing countryQ39890004
Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3.Q44369902
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafnessQ44884995
Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing lossQ50432162
GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairmentQ50439768
The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis.Q50442870
Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative matingQ50484227
A partition-ligation-combination-subdivision EM algorithm for haplotype inference with multiallelic markers: update of the SHEsis (http://analysis.bio-x.cn).Q51848406
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.Q51995942
Mutations inGJB2,GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairmentQ58437239
SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism lociQ81459790
Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucomaQ83201955
Connexin mutations in Brazilian patients with skin disorders with or without hearing lossQ83471146
P433issue7
P921main subjectdeafnessQ12133
nonsyndromic deafnessQ9079046
P304page(s)481-485
P577publication date2014-05-02
P1433published inOMICS A Journal of Integrative BiologyQ15753054
P1476titleIn search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes
P478volume18

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cites work (P2860)
Q39027498A Genomic and Protein-Protein Interaction Analyses of Nonsyndromic Hearing Impairment in Cameroon Using Targeted Genomic Enrichment and Massively Parallel Sequencing.
Q92958757Adverse outcome pathway for aminoglycoside ototoxicity in drug-resistant tuberculosis treatment
Q89750482Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families
Q34399839Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria
Q26799628Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward
Q89879621Hearing Impairment Overview in Africa: the Case of Cameroon
Q55407610Increased risk of aminoglycoside-induced hearing loss in MDR-TB patients with HIV coinfection.
Q30845348Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans
Q28552418Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)

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