(Q43435241)

23 November 2017

title

Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1. (English)

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23 November 2017

Steel KP

1

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23 November 2017

Smith RJ

series ordinal

2

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23 November 2017

language of work or name

English

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publication date

1 September 1992

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23 November 2017

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23 November 2017

volume

2

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23 November 2017

issue

1

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23 November 2017

page(s)

75-79

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

23 November 2017

cites work

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

21 January 2018

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

21 January 2018

1 reference

Auditory and vestibular findings in Waardenburg's type II syndrome.

21 January 2018

1 reference

Strial dysfunction in mice with cochleo-saccular abnormalities

21 January 2018

1 reference

A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice

21 January 2018

1 reference

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

21 January 2018

1 reference

Mouse and hamster mutants as models for Waardenburg syndromes in humans

21 January 2018

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Cochlear action potential threshold and single unit thresholds

1 reference

7 January 2021

The origin of the low-frequency microphonic in the first cochlear turn of guinea-pig

1 reference

7 January 2021

Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease

1 reference

7 January 2021

Deafness as part of an hereditary syndrome.

1 reference

7 January 2021

Tomographic findings of the inner ears of 24 patients with Waardenburg's syndrome

1 reference

7 January 2021

Tomography of the inner ear in a case of Waardenburg's syndrome

1 reference

7 January 2021

Temporal bone studies in anencephaly

1 reference

7 January 2021

Hereditary inner-ear abnormalities in animals. Relationships with human abnormalities.

1 reference

7 January 2021

Reduction in the frequency of neural tube defects in splotch mice by retinoic acid

1 reference

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

7 January 2021

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

1 reference

7 January 2021

The molecular basis of the undulated/Pax-1 mutation

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG0992-75

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Dimensions Publication ID

23 November 2017

1003752589

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