Franca Dagna Bricarelli

Ontology type: schema:Person     

Person Info


Franca Dagna



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
  • JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

        "@context": "", 
        "affiliation": [
            "affiliation": {
              "id": "", 
              "type": "Organization"
            "isCurrent": true, 
            "type": "OrganizationRole"
            "id": "", 
            "type": "Organization"
            "id": "", 
            "type": "Organization"
            "id": "", 
            "type": "Organization"
        "familyName": "Bricarelli", 
        "givenName": "Franca Dagna", 
        "id": "sg:person.063121131.80", 
        "sameAs": [
        "sdDataset": "persons", 
        "sdDatePublished": "2019-03-07T13:40", 
        "sdLicense": "", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        "sdSource": "s3://com-uberresearch-data-dimensions-researchers-20181010/20181011/dim_researchers/base/researchers_145.json", 
        "type": "Person"

    Download the RDF metadata as:  json-ld nt turtle xml License info


    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' ''

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' ''

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' ''

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' ''


    Preview window. Press ESC to close (or click here)