Inherited hearing loss: molecular genetics and diagnostic testing (Q38089731)

28 August 2017

title

Inherited hearing loss: molecular genetics and diagnostic testing (English)

1 reference

28 August 2017

1 reference

Oana Vele

1

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ORCID Public Data File 2021

author name string

Iris Schrijver

series ordinal

2

1 reference

28 August 2017

language of work or name

English

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publication date

1 March 2008

1 reference

Expert Opinion on Medical Diagnostics

28 August 2017

published in

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28 August 2017

volume

2

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28 August 2017

issue

3

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28 August 2017

page(s)

231-248

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Advances in hereditary deafness

28 August 2017

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Deafness genes and their diagnostic applications

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The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency

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KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential

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Connexins, connexons, and intercellular communication

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The gap junction communication channel

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Gap junction structures. II. Analysis of the x-ray diffraction data

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Connexin mutations in hearing loss, dermatological and neurological disorders.

21 January 2018

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Structural and functional diversity of connexin genes in the mouse and human genome

21 January 2018

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An update on connexin genes and their nomenclature in mouse and man.

21 January 2018

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Connexin gene pathology

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Connexin26 is responsible for anionic molecule permeability in the cochlea for intercellular signalling and metabolic communications

21 January 2018

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Gap junction systems in the mammalian cochlea

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21 January 2018

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From deafness genes to hearing mechanisms: harmony and counterpoint

21 January 2018

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Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12

21 January 2018

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Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

21 January 2018

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Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

21 January 2018

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Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

21 January 2018

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Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

21 January 2018

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A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.

21 January 2018

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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.

21 January 2018

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Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis

21 January 2018

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Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele

21 January 2018

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Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Genotype-phenotype correlations for SLC26A4-related deafness.

21 January 2018

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https://api.crossref.org/works/10.1517%2F17530059.2.3.231

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

21 January 2018

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A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

21 January 2018

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https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23

21 January 2018

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A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms

21 January 2018

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https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness

21 January 2018

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Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

21 January 2018

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https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse

21 January 2018

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Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

21 January 2018

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OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

21 January 2018

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Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat

21 January 2018

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Analysis of the oligomeric structure of the motor protein prestin.

21 January 2018

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The C-terminus of prestin influences nonlinear capacitance and plasma membrane targeting

21 January 2018

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Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss

21 January 2018

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High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss

21 January 2018

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https://api.crossref.org/works/10.1517%2F17530059.2.3.231

WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Identification of a novel Cochlin isoform in the perilymph: insights to Cochlin function and the pathogenesis of DFNA9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

KCNQ potassium channels: physiology, pathophysiology, and pharmacology

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

[Clinical and molecular genetic analysis of monozygotic twins displaying stapes gusher syndrome (DFN3)].

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Mitochondrial DNA mutations in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Sequence analysis of cDNAs for the human and bovine ATP synthase beta subunit: mitochondrial DNA genes sustain seventeen times more mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Mitochondrial DNA mutations in the pathogenesis of human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Cochlear dysfunction in patients with mitochondrial myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Molecular pathogenetic mechanism of maternally inherited deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

21 January 2018

1 reference

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A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Mitochondrial syndromic sensorineural hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Prevalence of mitochondrial gene mutations among hearing impaired patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up

21 January 2018

1 reference

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Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome

21 January 2018

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Recent advances in the understanding of syndromic forms of hearing loss

21 January 2018

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Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

21 January 2018

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Worldwide distribution of Waardenburg syndrome

21 January 2018

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Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

21 January 2018

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https://api.crossref.org/works/10.1517%2F17530059.2.3.231

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

SLUG (SNAI2) deletions in patients with Waardenburg disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

The value of MLPA in Waardenburg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Phenotypic manifestations of branchio-oto-renal syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Neurofibromatosis types 1 and 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

ERM proteins and merlin: integrators at the cell cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Pathogenetics of the human SLC26 transporters

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Usher syndrome: molecular links of pathogenesis, proteins and pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Usher syndrome: definition and estimate of prevalence from two high-risk populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Usher syndrome: clinical findings and gene localization studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Novel mutations in MYO7A and USH2A in Usher syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Development of a genotyping microarray for Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Molecular biology of K(+) channels and their role in cardiac arrhythmias

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Temporal bone histopathology in alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Otopathology in Mohr-Tranebjaerg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Genetic epidemiological studies of early-onset deafness in the U.S. school-age population

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

The MELAS syndrome. Review of the literature: the role of the otologist

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Audiological findings in patients with myoclonic epilepsy associated with ragged-red fibres.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Maternally inherited diabetes and deafness: a multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Partial triplication of mtDNA in maternally transmitted diabetes mellitus and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2.3.231

21 January 2018

Identifiers

DOI

10.1517/17530059.2.3.231

1 reference

28 August 2017

1 reference