Timeline

Denis Houzelstein
Permanent Researcher
26 May 2020
publication

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

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12 Sep 2019
project

Mammalian SD is a balance of mutually antagonistic pathways

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12 Sep 2019
project

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

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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’

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22 Aug 2018
publication

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

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07 May 2018
publication

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

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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

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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

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01 Jul 2017
publication

Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome

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24 Mar 2017
publication

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

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01 Feb 2017
publication

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

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03 Dec 2016
publication

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

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01 Dec 2016
publication

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

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29 Nov 2016
publication

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

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13 Sep 2016
publication

Familial early puberty: presentation and inheritance pattern in 139 families

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12 May 2016
publication

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

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08 Apr 2016
publication

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

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22 Mar 2016
publication

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

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03 Nov 2015
publication

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

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23 Oct 2015
publication

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

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08 Sep 2015
project

Pathogenicity and resistance to Rift Valley Fever virus.

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07 Jun 2015
project

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

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11 May 2015
team

Human Developmental Genetics

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