A de novo phe671eu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis (Q79751771)

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25 December 2019

title

A de novo phe671eu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15008251 AND SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

J C Zenteno

1

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25 December 2019

S Carranza-Lira

series ordinal

2

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25 December 2019

A L Jiménez

series ordinal

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15008251 AND SRC:MED&resulttype=core&format=json

25 December 2019

S Kofman

series ordinal

4

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25 December 2019

publication date

1 November 2003

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Journal of Endocrinological Investigation

25 December 2019

published in

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25 December 2019

volume

26

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25 December 2019

issue

11

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25 December 2019

page(s)

1117-1119

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Sry induces cell proliferation in the mouse gonad

25 December 2019

cites work

1 reference

12 December 2020

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations

1 reference

12 December 2020

Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor

1 reference

12 December 2020

True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case

1 reference

12 December 2020

Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue.

1 reference

12 December 2020

Human sex reversal due to impaired nuclear localization of SRY. A clinical correlation.

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

Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal

1 reference

12 December 2020

True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene

1 reference

12 December 2020

Interaction of human SRY protein with DNA: A molecular dynamics study

1 reference

12 December 2020

SRY, like HMG1, recognizes sharp angles in DNA

1 reference

12 December 2020

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

1 reference

12 December 2020

Migration of mesonephric cells into the mammalian gonad depends on Sry.

1 reference

12 December 2020