about
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndromeA truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing lossMutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise.Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontiaIdentification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstructionSLITRK6 mutations cause myopia and deafness in humans and miceMASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromesMutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndromeHomozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontiaComprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohortMutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephalyCardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutationA novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boyModulation of Fgf3 dosage in mouse and men mirrors evolution of mammalian dentitionA mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.Hearing Assessment in Zebrafish During the First Week PostfertilizationEvidence for genotype-phenotype correlation for OTOF mutations.Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.Similar phenotypes caused by mutations in OTOG and OTOGL.Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2.A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart.Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.Advances in hereditary deafness.A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genesROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.Assessment of ventricular repolarization in a large group of children with early onset deafness.Comprehensive genetic testing can save lives in hereditary hearing loss.ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five familiesA Mayan founder mutation is a common cause of deafness in Guatemala.Whole-exome sequencing and its impact in hereditary hearing lossPhenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier geneHigh frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effectsGJB2 mutations and degree of hearing loss: a multicenter study.Café au lait spots: the pediatrician's perspective.Challenges in whole exome sequencing: an example from hereditary deafness.Complement activation by ligand-driven juxtaposition of discrete pattern recognition complexes.The promise of whole-exome sequencing in medical genetics.
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description
onderzoeker
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researcher ORCID ID = 0000-0002-3525-7960
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name
M Tekin
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Mustafa Tekin
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Mustafa Tekin
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M Tekin
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Mustafa Tekin
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Mustafa Tekin
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M Tekin
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M Tekin
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Mustafa Tekin
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Mustafa Tekin
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0000-0002-3525-7960