Timeline

Denis Houzelstein

Permanent Researcher

30 Mar 2024

publication

A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.

26 May 2020

publication

Genetic dissection of Rift Valley fever pathogenesis: Rvfs2 locus on mouse chromosome 11 enables survival to early-onset hepatitis.

12 Sep 2019

project

Mammalian SD is a balance of mutually antagonistic pathways

12 Sep 2019

project

Control of expression of the human testis-determining gene SRY.

01 Oct 2018

publication

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

22 Aug 2018

publication

Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer

07 May 2018

publication

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

22 Feb 2018

publication

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

21 Dec 2017

publication

A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD

01 Jul 2017

publication

Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome

24 Mar 2017

publication

Identification of a Novel Mutation of Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

01 Feb 2017

publication

Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development

03 Dec 2016

publication

Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development

01 Dec 2016

publication

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

29 Nov 2016

publication

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

13 Sep 2016

publication

Familial early puberty: presentation and inheritance pattern in 139 families

12 May 2016

publication

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis

08 Apr 2016

publication

Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development

22 Mar 2016

publication

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea

03 Nov 2015

publication

A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome

23 Oct 2015

publication

Human sex-determination and disorders of sex-development (DSD)

08 Sep 2015

project

Pathogenicity and resistance to Rift Valley Fever virus.

07 Jun 2015

project

Identification of key components of the human sex-determination pathway. The DSD genome project.

11 May 2015

team

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Timeline

A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.

Genetic dissection of Rift Valley fever pathogenesis: Rvfs2 locus on mouse chromosome 11 enables survival to early-onset hepatitis.

Mammalian SD is a balance of mutually antagonistic pathways

Control of expression of the human testis-determining gene SRY.

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD

Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome

Identification of a Novel Mutation of Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development

Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

Familial early puberty: presentation and inheritance pattern in 139 families

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis

Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea

A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome

Human sex-determination and disorders of sex-development (DSD)

Pathogenicity and resistance to Rift Valley Fever virus.

Identification of key components of the human sex-determination pathway. The DSD genome project.

Human Developmental Genetics