The role of mouse mutants in the identification of human hereditary hearing loss genes (Q33631106)

28 July 2017

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title

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

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28 July 2017

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Probst FJ

1

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PubMed ID

10320095

28 July 2017

Camper SA

series ordinal

2

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28 July 2017

1 April 1999

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28 July 2017

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28 July 2017

130

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28 July 2017

1-2

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28 July 2017

1-6

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Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins

28 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Mouse and hamster mutants as models for Waardenburg syndromes in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Close linkage of the olfactory marker protein gene to the mouse deafness mutation shaker-1

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

A genetic linkage map of the mouse: current applications and future prospects

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Influence of the Neural Tube on the Differentiation of the Inner Ear in the Mammalian Embryo

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

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%2FS0378-5955%2898%2900231-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

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%2FS0378-5955%2898%2900231-7

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

The fundamental and medical impacts of recent progress in research on hereditary hearing loss.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Localization of two genes for Usher syndrome type I to chromosome 11.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Inherited hearing defects in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

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%2FS0378-5955%2898%2900231-7

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%2FS0378-5955%2898%2900231-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Chromosomal localization and sequences of the murine Brn-3 family of developmental control genes.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Genetic and physical delineation of the region of the mouse deafness mutation shaker-2

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

A novel type of myosin encoded by the mouse deafness gene shaker-2.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

Essential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development

1 reference

https://api.crossref.org/works/10.1016%2FS0378-5955%2898%2900231-7

7 January 2021

10.1016/S0378-5955(98)00231-7

Identifiers

DOI

1 reference

28 July 2017

1 reference

PubMed ID

10320095