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2022Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings., Front Endocrinol (Lausanne) 2022 ; 13(): 810782.
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2021Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case., Eur J Med Genet 2021 Sep; 64(9): 104285.
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2021Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings., Sex Dev 2021 Mar; (): 1-6.
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2021Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37., Sex Dev 2021 ; 15(4): 244-252.
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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.
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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.
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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;.
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2019The TALE homeodomain of PBX1 is involved in human primary testis-determination, Hum. Mutat. 2019 May;.
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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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