(Q51753249)

11 April 2018

title

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). (English)

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11 April 2018

author

Jonathan S Berg

2

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11 April 2018

James R. Lupski

7

James R Lupski

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11 April 2018

Pawel Stankiewicz

9

Pawel Stankiewicz

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11 April 2018

Marta Smyk

1

Marta Smyk

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11 April 2018

Amber Pursley

3

Amber Pursley

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11 April 2018

Gabriel A Bien-Willner

6

Gabriel A Bien-Willner

1 reference

11 April 2018

Sau Wai Cheung

8

Sau Wai Cheung

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11 April 2018

author name string

Fiona K Curtis

4

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11 April 2018

Bridget A Fernandez

5

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11 April 2018

publication date

15 May 2007

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11 April 2018

published in

Human Genetics

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11 April 2018

volume

122

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11 April 2018

issue

1

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11 April 2018

page(s)

63-70

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11 April 2018

https://scigraph.springernature.com/pub.10.1007/s00439-007-0373-8

exact match

0 references

cites work

The Wilms' tumor suppressor gene (wt1) product regulates Dax-1 gene expression during gonadal differentiation

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-007-0373-8

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-007-0373-8

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

21 January 2018

1 reference

12 December 2020

Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression

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12 December 2020

Long-range control of gene expression: emerging mechanisms and disruption in disease

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12 December 2020

Sex determination: a 'window' of DAX1 activity

1 reference

12 December 2020

Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Sex determination and sex reversal.

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12 December 2020

Mammalian sex determination: from gonads to brain

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12 December 2020

Down-Regulation of Steroidogenic Response to Gonadotropins in Human and Rat Preovulatory Granulosa Cells Involves Mitogen-Activated Protein Kinase Activation and Modulation of DAX-1 and Steroidogenic Factor-1

1 reference

12 December 2020

A clinical and genetic study of campomelic dysplasia

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12 December 2020

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

1 reference

12 December 2020

Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes

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12 December 2020

Nuclear receptors Sf1 and Dax1 function cooperatively to mediate somatic cell differentiation during testis development

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12 December 2020

Genetic evidence equating SRY and the testis-determining factor

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12 December 2020

DAX1 and its network partners: exploring complexity in development

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12 December 2020

Regulatory potential scores from genome-wide three-way alignments of human, mouse, and rat

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12 December 2020

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

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12 December 2020

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

1 reference

12 December 2020

DAX1 origin, function, and novel role

1 reference

12 December 2020

Activation of luteinizing hormone beta gene by gonadotropin-releasing hormone requires the synergy of early growth response-1 and steroidogenic factor-1.

1 reference

12 December 2020

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

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12 December 2020

Nuclear receptor Dax-1 represses the transcriptional cooperation between GATA-4 and SF-1 in Sertoli cells

1 reference

12 December 2020

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

1 reference

12 December 2020

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

12 December 2020

BAC to the future! or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH)

1 reference

12 December 2020

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

1 reference

12 December 2020

Dax1 is required for testis determination

1 reference

12 December 2020

Capturing chromosome conformation

1 reference

12 December 2020

Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal

1 reference

12 December 2020

R-spondin1 is essential in sex determination, skin differentiation and malignancy.

1 reference

12 December 2020

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

1 reference

12 December 2020

DAX1: Increasing complexity in the roles of this novel nuclear receptor

1 reference

12 December 2020

Dax1 expression is dependent on steroidogenic factor 1 in the developing gonad

1 reference

12 December 2020

Autosomal XX sex reversal caused by duplication of SOX9.

1 reference

12 December 2020

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

1 reference

12 December 2020

10.1007/S00439-007-0373-8

Identifiers

DOI

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11 April 2018

PubMed ID

17503084

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11 April 2018