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  1. Article

    Open Access

    Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development

    Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicul...

    Khouloud Rjiba, Soumaya Mougou-Zerelli… in Reproductive Biology and Endocrinology (2023)

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    Article

    Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population

    Macrozoospermia is a rare condition of male infertility characterized by the presence of close to 100 % large-headed multiflagellar spermatozoa. The homozygous mutation (c.144delC) in aurora kinase C gene (AURKC)...

    Houda Ghédir, Moez Gribaa, Ons Mamaî… in Journal of Assisted Reproduction and Genet… (2015)

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    Article

    An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation

    Autosomal dominant hypophosphatemic rickets (ADHR) is a rare disease, characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. ...

    Moez Gribaa, Mohamed Younes, Yosra Bouyacoub… in Journal of Bone and Mineral Metabolism (2010)