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Pathogenicity and resistance to Rift Valley Fever virus.
Jean-Jacques Panthier (PI)
Rift Valley fever is a serious emerging viral disease that primarily affects domesticated animals (such as cattle, sheep and goats) and humans. Recurrent outbreaks have been documented in sub-Saharan Africa and have spread outside […]
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.
2018ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling, Proc. Natl. Acad. Sci. U.S.A. 2018 05;115(21):5474-5479.
2018Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies, Hum. Mol. Genet. 2018 04;27(7):1228-1240.
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.
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.
2017Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome, J. Clin. Endocrinol. Metab. 2017 07;102(7):2401-2406.
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.
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.
2016Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development, Sex Dev 2016;10(5-6):313-325.
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