Franca Dagna Bricarelli


Ontology type: schema:Person     


Person Info

NAME

Franca Dagna

SURNAME

Bricarelli

Publications in SciGraph latest 50 shown

  • 2015-09 The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-05 Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2001-01 X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy in NATURE GENETICS
  • 2000-03 FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1998-04 Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy in NATURE GENETICS
  • 1989-12 Isochromosome not translocation in trisomy 21q21q in HUMAN GENETICS
  • 1989-04 Parental age and the origin of trisomy 21 in HUMAN GENETICS
  • 1989-02 Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man in HUMAN GENETICS
  • 1988-06 High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms in HUMAN GENETICS
  • 1985-07 Frequency of consanguineous marriages among parents and grandparents of Down patients in HUMAN GENETICS
  • 1982-02 Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study in HUMAN GENETICS
  • 1981-11 Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band in HUMAN GENETICS
  • 1981-03 Sex-reversed XY females with campomelic dysplasia are H-Y negative in HUMAN GENETICS
  • 1977-03 Selective deficiency of IgG and IgA as a first stage defect in B cell differentiation in ANNALS OF HEMATOLOGY
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