(Q33595672)

28 July 2017

title

A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis (English)

1 reference

28 July 2017

main subject

XY gonadal dysgenesis

1 reference

Zeng YT

1

1 reference

28 July 2017

Ren ZR

2

1 reference

28 July 2017

Zhang ML

3

1 reference

28 July 2017

Huang Y

4

1 reference

28 July 2017

Zeng FY

5

1 reference

28 July 2017

Huang SZ

6

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 August 1993

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

30

1 reference

28 July 2017

issue

8

1 reference

28 July 2017

page(s)

655-657

1 reference

A case of human intersexuality having a possible XXY sex-determining mechanism

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

Sex determination in mammals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

Genetics of sex determination in man and mouse

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

Improved double-stranded DNA sequencing using the linear polymerase chain reaction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

Expression of a candidate sex-determining gene during mouse testis differentiation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

Genetic evidence equating SRY and the testis-determining factor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

Male development of chromosomally female mice transgenic for Sry.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

DNA Binding Activity of Recombinant SRY from Normal Males and XY Females

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

XY Sex reversal associated with a nonsense mutation in SRY

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016493

21 June 2018

What makes a man a man?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8105086

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Intra-articular prednisolone 21: phosphate; a clinical trial

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8105086

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.30.8.655

1 reference

release_oc5yfhcqhff5hphcegynifm7ky

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/oc5yfhcqhff5hphcegynifm7ky

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

1016493

1 reference

28 July 2017

1 reference