A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies (Q28141732)

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11 December 2019

title

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies (English)

1 reference

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Yemenite deaf-blind hypopigmentation syndrome

11 December 2019

main subject

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author

Nadège Bondurand

1

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11 December 2019

Veronique Pingault

3

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11 December 2019

Michael Wegner

10

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11 December 2019

author name string

K Kuhlbrodt

2

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11 December 2019

J Enderich

4

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11 December 2019

M Sajus

5

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11 December 2019

N Tommerup

6

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11 December 2019

M Warburg

7

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11 December 2019

R C Hennekam

8

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11 December 2019

A P Read

9

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11 December 2019

M Goossens

11

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11 December 2019

language of work or name

English

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publication date

1 September 1999

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11 December 2019

published in

Human Molecular Genetics

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11 December 2019

volume

8

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11 December 2019

issue

9

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11 December 2019

page(s)

1785-1789

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11 December 2019

1 reference

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SOX10 mutations in patients with Waardenburg-Hirschsprung disease

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The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome

21 January 2018

1 reference

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Confirmation of the Yemenite (Warburg) deaf-blind hypopigmentation syndrome

21 January 2018

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Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex

21 January 2018

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Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients

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Sox genes find their feet

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Genetic evidence equating SRY and the testis-determining factor

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A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.

21 January 2018

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Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

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Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

21 January 2018

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Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease

21 January 2018

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Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

21 January 2018

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Expression of the SOX10 gene during human development

21 January 2018

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