Genetics of deafness (Q41103360)

26 September 2017

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title

Genetics of deafness (English)

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26 September 2017

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Steel KP

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26 September 2017

Brown SD

series ordinal

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26 September 2017

publication date

1 August 1996

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Current Opinion in Neurobiology

26 September 2017

published in

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26 September 2017

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26 September 2017

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26 September 2017

page(s)

520-525

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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

26 September 2017

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7 January 2021

Inherited hearing defects in mice

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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

A type VII myosin encoded by the mouse deafness gene shaker-1

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Snell's waltzer, a new mutation affecting behaviour and the inner ear in the mouse

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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.

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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis

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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Chondrodysplasia and neurological abnormalities in ATF-2-deficient mice

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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

The mutational spectrum in Waardenburg syndrome.

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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice

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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Quantitative trait loci that modify the severity of spotting in piebald mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

The gene for an inherited form of deafness maps to chromosome 5q31

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval

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https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Linkage of a gene for dominant non-syndromic deafness to chromosome 19.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

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%2FS0959-4388%2896%2980059-6

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%2FS0959-4388%2896%2980059-6

7 January 2021

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Molecular cloning and characterization of an inner ear-specific structural protein.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Alpha 9: an acetylcholine receptor with novel pharmacological properties expressed in rat cochlear hair cells

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

Molecular cloning of a myosin I beta isozyme that may mediate adaptation by hair cells of the bullfrog's internal ear

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2896%2980059-6

7 January 2021

10.1016/S0959-4388(96)80059-6

Identifiers

DOI

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26 September 2017

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