(Q42639926)

English

A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis

scientific article published on April 1996

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

author name string

J R Bilbao

1

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

L Loridan

2

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

publication date

1 April 1996

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

97

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

537-539

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation localized in the 3' non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic evidence equating SRY and the testis-determining factor

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A familial mutation in the testis-determining gene SRY shared by both sexes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Male development of chromosomally female mice transgenic for Sry.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S004390050088

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

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