IDENTIFICATION AND CHARACTERIZATION OF HUMAN DISEASE-GENES FROM A REGION OF Xp INVOLVED IN SEX DETERMINATION

Pubblicazioni Scientifiche

• 1996 NATURE GENETICS

  Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function

• 1995 MAMMALIAN GENOME

  A FAMILY OF RAPIDLY EVOLVING GENES FROM THE SEX REVERSAL CRITICAL REGION IN XP21

• 1994 NATURE

  MUTATIONS IN THE DAX-1 GENE GIVE RISE TO BOTH X-LINKED ADRENAL HYPOPLASIA CONGENITA AND HYPOGONADOTROPIC HYPOGONADISM

• 1994 NATURE

  AN UNUSUAL MEMBER OF THE NUCLEAR HORMONE-RECEPTOR SUPERFAMILY RESPONSIBLE FOR X-LINKED ADRENAL HYPOPLASIA CONGENITA

• 1996 MOLECULAR ENDOCRINOLOGY

  Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: Potential links in endocrine development

• 1995 PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES

  Xp duplications and sex reversal

• 1994 NATURE GENETICS

  A DOSAGE SENSITIVE LOCUS AT CHROMOSOME XP21 IS INVOLVED IN MALE TO FEMALE SEX REVERSAL