Functional disomy of Xp including duplication ofDAX1gene with sex reversal due to t(X;Y)(p21.2;p11.3)

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Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis.Building pathways for ovary organogenesis in the mouse embryo.The biology of germ cell tumors in disorders of sex development.

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P2860

Functional disomy of Xp including duplication ofDAX1gene with sex reversal due to t(X;Y)(p21.2;p11.3)

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http://www.wikidata.org/entity/Q57757867

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article

@en

im Juli 2004 veröffentlichter wissenschaftlicher Artikel

@de

wetenschappelijk artikel

@nl

наукова стаття, опублікована в травні 2004

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name

Functional disomy of Xp including duplication ofDAX1gene with sex reversal due to t

@nl

Functional disomy of Xp includ ...... sal due to t(X;Y)(p21.2;p11.3)

@en

type

Item

label

Functional disomy of Xp including duplication ofDAX1gene with sex reversal due to t

@nl

Functional disomy of Xp includ ...... sal due to t(X;Y)(p21.2;p11.3)

@en

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Functional disomy of Xp including duplication ofDAX1gene with sex reversal due to t

@nl

Functional disomy of Xp includ ...... sal due to t(X;Y)(p21.2;p11.3)

@en

P1476

Functional disomy of Xp includ ...... sal due to t(X;Y)(p21.2;p11.3)

@en

P2093

Alain Corré

http://www.w3.org/2001/XMLSchema#string

Azarnouche Ardalan

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Bernard Devauchelle

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François Thépot

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Jean-Louis Taillemite

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Luce Vue-Droy

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Marc Nouchy

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Marie-France Portnoï

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Patrice Nizard

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Tanguy Martin-Denavit

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P2860

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

Dax1 antagonizes Sry action in mammalian sex determination

X-Y translocations and sex differentiation.

Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.

Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome.

Turner syndrome: the case of the missing sex chromosome.

Xp-duplications with and without sex reversal.

Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function.

P304

325-330

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P31

scholarly article

P356

10.1002/AJMG.A.30115

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P407

English

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P478

128A

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Valérie Malan

Damien Sanlaville

F Vialard

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2004-07-01T00:00:00Z

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P698

15216557

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Functional disomy of Xp including duplication ofDAX1gene with sex reversal due to t(X;Y)(p21.2;p11.3)

about

P2860

P2860

Functional disomy of Xp including duplication ofDAX1gene with sex reversal due to t(X;Y)(p21.2;p11.3)

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698