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2024A conserved NR5A1-responsive enhancer regulates SRY in testis-determination., Nat Commun 2024 Mar; 15(1): 2796.
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2020Genetic dissection of Rift Valley fever pathogenesis: Rvfs2 locus on mouse chromosome 11 enables survival to early-onset hepatitis., Sci Rep 2020 May; 10(1): 8734.
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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.
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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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2018ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling, Proc. Natl. Acad. Sci. U.S.A. 2018 05;115(21):5474-5479.
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2018Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children, Am. J. Hum. Genet. 2018 03;102(3):487-493.
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2017A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD, Sex Dev 2017;11(5-6):269-274.
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2017Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome, J. Clin. Endocrinol. Metab. 2017 07;102(7):2401-2406.
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2017Identification of a Novel Mutation of Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing, Ann Dermatol 2017 Apr;29(2):243-246.
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2017Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development, Clin. Genet. 2017 02;91(2):143-156.
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