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  1. Article

    Open Access

    P189: Identifying PTPN14-Dependent Mechanisms That Influence Clinical Manifestations of Hereditary Hemorrhagic Telangiectasia

    Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder caused predominantly by loss of a single allele of ENG (HHT1) or ACVRL1 (HHT2). Global incidence is about 1 in 5,000. Clinical manifestations incl...

    Ons Mamai in Artery Research (2017)

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  2. No Access

    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)

  3. No Access

    Article

    Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

    Irwin McLean and colleagues report that heterozygous loss-of-function mutations in AAGAB, which encodes a cytosolic protein implicated in vesicular trafficking, cause punctate palmoplantar keratoderma. They furth...

    Elizabeth Pohler, Ons Mamai, Jennifer Hirst, Mozheh Zamiri, Helen Horn… in Nature Genetics (2012)