Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development. (Q51453206)

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3 February 2020

title

Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development (English)

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2

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Leendert Looijenga

3

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author name string

M Barbaro

1

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S L S Drop

4

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A Wedell

5

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publication date

3 June 2011

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volume

5

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page(s)

181-187

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issue

4

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

3 February 2020

cites work

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Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.

21 January 2018

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Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis

21 January 2018

1 reference

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

21 January 2018

1 reference

Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1

21 January 2018

1 reference

Differential requirement for steroidogenic factor-1 gene dosage in adrenal development versus endocrine function

21 January 2018

1 reference

A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency.

21 January 2018

1 reference

Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome

21 January 2018

1 reference

Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination.

21 January 2018

1 reference

The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis

21 January 2018

1 reference

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

21 January 2018

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The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

21 January 2018

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Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development

21 January 2018

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Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

21 January 2018

1 reference

Mutations in NR5A1 associated with ovarian insufficiency

21 January 2018

1 reference

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.

21 January 2018

1 reference

Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency

21 January 2018

1 reference

Structural characterization of human Ad4bp (SF-1) gene

21 January 2018

1 reference

Testicular germ-cell tumours in a broader perspective.

21 January 2018

1 reference

SF1 in the development of the adrenal gland and gonads.

21 January 2018

1 reference

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

21 January 2018

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Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

21 January 2018

1 reference

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

A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female

21 January 2018

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Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1.

21 January 2018

1 reference

Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1.

21 January 2018

1 reference

Functional characterization of a new human Ad4BP/SF-1 variation, G146A

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1159/000328821

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