Jean‐Pierre Siffroi
Sorbonne Université(FR)Hôpital Armand-Trousseau(FR)Assistance Publique – Hôpitaux de Paris(FR)Maladies génétiques d’expression pédiatrique
Publications by Year
Research Areas
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Sexual Differentiation and Disorders, Hormonal and reproductive studies, Sperm and Testicular Function, Epigenetics and DNA Methylation
Most-Cited Works
- → KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes(2011)241 cited
- → Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient(2012)104 cited
- → Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children(2018)102 cited
- → Y chromosome variants and male reproductive function(2006)44 cited
- → Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit(2018)22 cited
- → Unraveling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49(2022)3 cited