ISOLATION AND CHARACTERIZATION OF HUMAN GENES INVOLVED IN SEX DETERMINATION AND SEXUAL DIFFERENTIATION

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: Genetic analysis in one family

• CURRENT OPINION IN GENETICS & DEVELOPMENT

  Sex determination and sex reversal

• EUROPEAN JOURNAL OF ENDOCRINOLOGY

  Corticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene

• GENOMICS

  A new submicroscopic deletion that refines the 9p region for sex reversal

• GENOMICS

  The candidate sex-reversing DAX1 gene is autosomal in marsupials: Implications for the evolution of sex determination in mammals

• JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

  Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene

• JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

  Association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: A new syndrome

• NATURE

  Dax1 antagonizes Sry action in mammalian sex determination