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

Pubblicazioni Scientifiche

• 2005 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

• 1997 GENOMICS

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

• 2001 HORMONE RESEARCH

  Frasier syndrome with childhood-onset renal failure

• 2000 MECHANISMS OF DEVELOPMENT

  The expression pattern of a mouse doublsex-related gene is consistent with a role in gonadal differentiation

• 1998 NATURE

  Dax1 antagonizes Sry action in mammalian sex determination

• 2005 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

• 2005 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

• 2006 CURRENT OPINION IN GENETICS & DEVELOPMENT

  Sex determination and sex reversal

• 2000 GENOMICS

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

• 1999 JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM

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