Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene
about
Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model.Genetic factors that might lead to different responses in individuals exposed to perchlorate.Inner ear symptoms and disease: pathophysiological understanding and therapeutic optionsDiagnostic yield of computed tomography scan for pediatric hearing loss: a systematic review.Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction.SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.Function and expression pattern of nonsyndromic deafness genesLoss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model.Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse modelDiagnostic yield of MRI for pediatric hearing loss: a systematic review.Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.Epididymal expression of the forkhead transcription factor Foxi1 is required for male fertilityHearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisitionGenetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss.Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential.Clinical aspects of hereditary hearing loss.Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?Enlarged vestibular aqueduct in congenital non-syndromic sensorineural hearing loss in egypt.Pediatric sensorineural hearing loss, part 1: Practical aspects for neuroradiologists.Inherited hearing loss: molecular genetics and diagnostic testing.Pendrin is a novel in vivo downstream target gene of the TTF-1/Nkx-2.1 homeodomain transcription factor in differentiated thyroid cells.Gene expression profiling of the inner ear.Functional characterization of pendrin in a polarized cell system. Evidence for pendrin-mediated apical iodide efflux.Pendred syndrome: study of three families.Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China.Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.Comparison of MRI findings with traditional criteria in diagnosis of Pendred syndrome.Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.Delayed diagnosis of Pendred syndrome.American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.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.
P2860
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P2860
Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene
description
2000 nî lūn-bûn
@nan
2000 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Enlarged vestibular aqueduct: ...... , and mutation of the PDS gene
@ast
Enlarged vestibular aqueduct: ...... , and mutation of the PDS gene
@en
Enlarged vestibular aqueduct: ...... , and mutation of the PDS gene
@nl
type
label
Enlarged vestibular aqueduct: ...... , and mutation of the PDS gene
@ast
Enlarged vestibular aqueduct: ...... , and mutation of the PDS gene
@en
Enlarged vestibular aqueduct: ...... , and mutation of the PDS gene
@nl
prefLabel
Enlarged vestibular aqueduct: ...... , and mutation of the PDS gene
@ast
Enlarged vestibular aqueduct: ...... , and mutation of the PDS gene
@en
Enlarged vestibular aqueduct: ...... , and mutation of the PDS gene
@nl
P2093
P356
P1476
Enlarged vestibular aqueduct: ...... , and mutation of the PDS gene
@en
P2093
P304
P356
10.1093/QJMED/93.2.99
P407
P577
2000-02-01T00:00:00Z