| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | Jie Qing | |
| Rahul Mittal | |||
| Mohan Kameswaran | |||
| Denise Yan | |||
| Xue Zhong Liu | |||
| Abhiraami Kannan-Sundhari | |||
| Subramanian Vishwanath | |||
| P2860 | cites work | Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan | Q21261466 |
| Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness | Q24290692 | ||
| PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 | Q24298183 | ||
| The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro | Q24312524 | ||
| Tricellulin is a tight-junction protein necessary for hearing | Q24337885 | ||
| Mutations of MYO6 are associated with recessive deafness, DFNB37 | Q24532041 | ||
| Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23 | Q24535604 | ||
| OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. | Q24538784 | ||
| Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness | Q24540491 | ||
| Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. | Q24629226 | ||
| Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment | Q24649572 | ||
| Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction | Q24675125 | ||
| Distinctive audiometric profile associated with DFNB21 alleles of TECTA | Q24677474 | ||
| Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene | Q24678650 | ||
| Molecular epidemiology of DFNB1 deafness in France | Q24803748 | ||
| Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function | Q28202014 | ||
| Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse | Q28269823 | ||
| Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus | Q28283551 | ||
| Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus | Q28587113 | ||
| Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia | Q28593953 | ||
| Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss | Q30478094 | ||
| Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment. | Q30480382 | ||
| Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. | Q30484106 | ||
| Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. | Q30493957 | ||
| Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India | Q30495330 | ||
| Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. | Q33783963 | ||
| A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene | Q33916587 | ||
| Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. | Q33932144 | ||
| Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment. | Q34016296 | ||
| Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome | Q34104260 | ||
| High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects | Q34117173 | ||
| Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. | Q34137698 | ||
| Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness | Q34140755 | ||
| Hereditary deafness and phenotyping in humans | Q34151674 | ||
| Pendred syndrome--100 years of underascertainment? | Q34439749 | ||
| Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. | Q34469642 | ||
| Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. | Q34634062 | ||
| Genetics of population isolates. | Q34657331 | ||
| Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan | Q34689630 | ||
| Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation | Q34807434 | ||
| Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans | Q34866333 | ||
| Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. | Q50437309 | ||
| GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment. | Q50439768 | ||
| SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. | Q50446463 | ||
| High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India. | Q50447589 | ||
| Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. | Q50453784 | ||
| 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 | Q50482387 | ||
| Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1) | Q50502193 | ||
| Paediatric hearing loss in rural Pakistan. | Q50502965 | ||
| Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. | Q50516927 | ||
| Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. | Q50518441 | ||
| High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss | Q57305923 | ||
| Gene finding in genetically isolated populations | Q34915420 | ||
| Prevalent connexin 26 gene (GJB2) mutations in Japanese | Q35433439 | ||
| Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness | Q35442102 | ||
| Human Nonsyndromic Sensorineural Deafness | Q35550640 | ||
| Genetics of deafness in India | Q35822715 | ||
| Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p | Q35828580 | ||
| Endogamy, consanguinity and community disease profiles. | Q36071054 | ||
| Low prevalence of GJB2 mutations in non-syndromic hearing loss in Western India | Q36255990 | ||
| Therapeutics of hearing loss: expectations vs reality | Q36281581 | ||
| Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan | Q36289232 | ||
| Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss | Q36501153 | ||
| Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population | Q36680215 | ||
| Whirler mutant hair cells have less severe pathology than shaker 2 or double mutants | Q36881764 | ||
| Mutations of human TMHS cause recessively inherited non-syndromic hearing loss | Q36930179 | ||
| Contribution of GJB2 mutations to hearing loss in the Hazara Division of Pakistan | Q37004428 | ||
| Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. | Q37219051 | ||
| Population stratification and genetic association studies in South Asia | Q37241877 | ||
| Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. | Q37301176 | ||
| Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. | Q37452901 | ||
| Genetic epidemiology of hearing impairment | Q37519270 | ||
| The prevalence and demographic characteristics of consanguineous marriages in Pakistan | Q39475920 | ||
| Deafness: burden, prevention and control in India. | Q39936181 | ||
| Attitudes toward genetic counseling in the United Arab Emirates | Q40437997 | ||
| Linkage study of DFNB3 responsible for hearing loss in human | Q41891705 | ||
| Pre-Caucasoid and Caucasoid genetic features of the Indian population, revealed by mtDNA polymorphisms. | Q42037777 | ||
| Cochlear pathology of the circling mouse: a new mouse model of DFNB6. | Q42509720 | ||
| Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation | Q43989049 | ||
| Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness | Q44201543 | ||
| A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort | Q44380931 | ||
| The importance of race and ethnic background in biomedical research and clinical practice | Q45024288 | ||
| Genetic epidemiological studies of early-onset deafness in the U.S. school-age population | Q45091804 | ||
| Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates | Q45131122 | ||
| The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece | Q47278468 | ||
| Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). | Q47367429 | ||
| Evidence of a founder effect for the 235delC mutation of GJB2 (connexin�26) in east Asians | Q47376524 | ||
| Meta-analysis of GJB2 mutation 35delG frequencies in Europe | Q47609227 | ||
| High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). | Q47686867 | ||
| Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment | Q47737072 | ||
| GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation | Q48261886 | ||
| Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment. | Q50429587 | ||
| Newborn hearing screening vs later hearing screening and developmental outcomes in children with permanent childhood hearing impairment. | Q50436182 | ||
| P433 | issue | 9 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | India | Q668 |
| Pakistan | Q843 | ||
| hearing loss | Q16035842 | ||
| P304 | page(s) | 512-27 | |
| P577 | publication date | 2015-09-01 | |
| P1433 | published in | Genetic Testing and Molecular Biomarkers | Q15753742 |
| P1476 | title | The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations | |
| P478 | volume | 19 |
| Q30729587 | A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes |
| Q27307804 | Characterization of ATPase Activity of P2RX2 Cation Channel |
| Q57284005 | Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss |
| Q41170353 | Recent Advancements in the Regeneration of Auditory Hair Cells and Hearing Restoration |
| Q47143881 | The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans |
| Q98289881 | The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis |
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