Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects. (Q33677428)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8782045%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

title

Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8782045%20AND%20SRC:MED&resulttype=core&format=json

Berenice Bilharinho Mendonça

18 October 2019

author

3

1 reference

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18 October 2019

author name string

C Kwok

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8782045%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

C Tyler-Smith

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8782045%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

I Hughes

4

1 reference

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18 October 2019

G D Berkovitz

5

1 reference

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18 October 2019

P N Goodfellow

6

1 reference

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18 October 2019

J R Hawkins

7

1 reference

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18 October 2019

language of work or name

English

0 references

publication date

1 June 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8782045%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

18 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8782045%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

volume

33

1 reference

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18 October 2019

issue

6

1 reference

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18 October 2019

page(s)

465-468

1 reference

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

18 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

Evidence that the SRY protein is encoded by a single exon on the human Y chromosome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

A survey of long-range DNA polymorphisms on the human Y chromosome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

28 July 2018

The human SRY transcript

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

28 July 2018

The Denys-Drash syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

Sequence variation of the human Y chromosome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

Genetic evidence equating SRY and the testis-determining factor

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

Fathers and sons: the Y chromosome and human evolution

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050631

Genetics of XY sex reversal

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8782045

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Highly informative compound haplotypes for the human Y chromosome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8782045

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8782045

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.33.6.465

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8782045%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8782045%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

PubMed publication ID

8782045

1 reference