(Q42601666)

3 November 2017

title

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis (English)

1 reference

3 November 2017

Giorgio Gimelli

1

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3 November 2017

Stefania Gimelli

2

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3 November 2017

Nazzareno Dimasi

3

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3 November 2017

Renata Bocciardi

4

1 reference

3 November 2017

Eliana Di Battista

5

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3 November 2017

Tiziano Pramparo

6

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3 November 2017

Orsetta Zuffardi

7

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3 November 2017

language of work or name

1 reference

25 October 2006

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European Journal of Human Genetics

3 November 2017

published in

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3 November 2017

volume

15

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3 November 2017

issue

1

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3 November 2017

page(s)

76-80

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201719

3 November 2017

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

Male development of chromosomally female mice transgenic for Sry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

From head to toes: the multiple facets of Sox proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

Pairing SOX off: with partners in the regulation of embryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

Human Gene Mutation Database (HGMD): 2003 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

Turning on the male--SRY, SOX9 and sex determination in mammals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

POLYVIEW: a flexible visualization tool for structural and functional annotations of proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

Mutations inSRY andSOX9: Testis-determining genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9].

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

A de novo mutation (Gln2Stop) at the 5' end of the SRY gene leads to sex reversal with partial ovarian function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: Genetic analysis in one family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

inferred from DOI database lookup

7 January 2021

based on heuristic

Sex determination and its pathology in man.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201719

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201719

1 reference

Dimensions Publication ID

3 November 2017

1044665648

0 references

1 reference