Mammalian SD is a balance of mutually antagonistic pathways
Our data on the role of nuclear receptors in human ovarian development and the repression of WNT signaling during mammalian testis formation suggests the main function of pro-testis genes may be to antagonize pro-ovary […]
Control of expression of the human testis-determining gene SRY.
Cell fate decisions requiring appropriate transcriptional regulation key genes. SRY is pivotal in mammalian SD but how the expression of SRY is regulated in mammals is unknown. We identified a family from central India […]
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Identification of key components of the human sex-determination pathway. The DSD exome/genome project.
Disorders/differences in Sex Development (DSD) are defined as congenital conditions with discordant development of chromosomal and gonadal/anatomical sex and cover a wide range of phenotypes that involve the endocrine and reproductive systems. In the […]
The role of the ribosome biogenesis factor DHX37 in vertebrate sex-determination.
The identification of variants in DHX37 as a cause of 46,XY DSD opens up the possibility that some forms of human sex-reversal are ribosomopathies. Pathogenic variants associated with a lack of testis-determination or, the […]
2022Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings., Front Endocrinol (Lausanne) 2022 ; 13(): 810782.
2021Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case., Eur J Med Genet 2021 Sep; 64(9): 104285.
2021Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings., Sex Dev 2021 Mar; (): 1-6.
2021Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37., Sex Dev 2021 ; 15(4): 244-252.
2021Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism., Front Pediatr 2021 ; 9(): 641397.
2020Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene., Proc. Natl. Acad. Sci. U.S.A. 2020 Jun; 117(24): 13680-13688.
2019Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome, Genet. Med. 2019 Jul;.
2019The TALE homeodomain of PBX1 is involved in human primary testis-determination, Hum. Mutat. 2019 May;.
2018GENETICS 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’, Eur. J. Endocrinol. 2018 10;179(4):R197-R206.
2018Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer, Hum. Mutat. 2018 Dec;39(12):1861-1874.
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