Ligne de temps
Denis Houzelstein
Chercheur(euse) Permanent(e)
30 mars 2024
26 mai 2020
publication
Genetic dissection of Rift Valley fever pathogenesis: Rvfs2 locus on mouse chromosome 11 enables survival to early-onset hepatitis.
Lire plus12 sept. 2019
12 sept. 2019
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’
Lire plus22 août 2018
publication
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer
Lire plus07 mai 2018
publication
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling
Lire plus22 févr. 2018
publication
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children
Lire plus21 déc. 2017
publication
A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD
Lire plus01 juil. 2017
24 mars 2017
publication
Identification of a Novel Mutation of Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing
Lire plus01 févr. 2017
publication
Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development
Lire plus03 déc. 2016
publication
Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development
Lire plus01 déc. 2016
publication
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
Lire plus29 nov. 2016
publication
Familial forms of disorders of sex development may be common if infertility is considered a comorbidity
Lire plus13 sept. 2016
12 mai 2016
publication
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis
Lire plus08 avr. 2016
publication
Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development
Lire plus22 mars 2016
publication
Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea
Lire plus03 nov. 2015
publication
A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome
Lire plus23 oct. 2015
08 sept. 2015
07 juin 2015
project
Identification of key components of the human sex-determination pathway. The DSD exome/genome project.
Lire plus11 mai 2015