(Q34384188)

1 August 2017

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title

Histopathology and molecular genetics of hearing loss in the human (English)

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1 August 2017

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Nadol JB Jr

1

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1 August 2017

Merchant SN

series ordinal

2

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1 August 2017

publication date

1 October 2001

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International Journal of Pediatric Otorhinolaryngology

1 August 2017

published in

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1 August 2017

volume

61

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1 August 2017

issue

1

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1 August 2017

page(s)

1-15

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Deafness in developing countries. Approaches to a global program of prevention.

1 August 2017

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PROFOUND CHILDHOOD DEAFNESS.

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Genetic epidemiology of hearing impairment

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7 January 2021

The molecular genetics of inherited deafness--current and future applications.

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7 January 2021

Perinatal risk factors in the aetiology of hearing loss in preschool children.

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https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Analysis of expressed sequence tags indicates 35,000 human genes

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7 January 2021

Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence

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https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

An Introduction to the Genetics of Normal and Defective Hearing

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7 January 2021

Genes responsible for human hereditary deafness: symphony of a thousand

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7 January 2021

The role of mouse mutants in the identification of human hereditary hearing loss genes

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7 January 2021

Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds

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7 January 2021

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

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7 January 2021

Histopathology of the inner ear in DFNA9.

1 reference

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7 January 2021

Changes in immunostaining of cochleas with experimentally induced endolymphatic hydrops

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7 January 2021

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

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7 January 2021

Otopathology in a case of type I Waardenburg's syndrome

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7 January 2021

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

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https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

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7 January 2021

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family

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7 January 2021

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

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7 January 2021

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

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7 January 2021

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Histopathologic features of the temporal bone in usher syndrome type I.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Histopathology of the inner ear in Usher's syndrome as observed by light and electron microscopy

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1).

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Human deafness dystonia syndrome is a mitochondrial disease

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7 January 2021

Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Optic cochleovestibular degenerations in hereditary ataxias. II. Temporal bone pathology in two cases of Friedreich's ataxia with vestibulo-cochlear disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Temporal bone findings in Friedreich's ataxia.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Histopathology of the ears, eyes, and brain in Norrie's disease (oculoacousticocerebral degeneration).

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Molecular dissection of Norrie disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Association of mitochondrial DNA deletions and cochlear pathology: a molecular biologic tool

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Maternal inheritance of human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

Mitochondrial deafness mutations reviewed

1 reference

https://api.crossref.org/works/10.1016%2FS0165-5876%2801%2900546-8

7 January 2021

10.1016/S0165-5876(01)00546-8

Identifiers

DOI

1 reference

1 August 2017

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