Catherine Boileau


Ontology type: schema:Person     


Person Info

NAME

Catherine

SURNAME

Boileau

Publications in SciGraph latest 50 shown

  • 2019-01 MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants in GENETICS IN MEDICINE
  • 2018-12 Association of modifiers and other genetic factors explain Marfan syndrome clinical variability in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-12 New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia in SCIENTIFIC REPORTS
  • 2018-12 High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations in SCIENTIFIC REPORTS
  • 2018-04 Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia? in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-12 PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies in CURRENT ATHEROSCLEROSIS REPORTS
  • 2016-12 Rationale, design, and methods for Canadian alliance for healthy hearts and minds cohort study (CAHHM) – a Pan Canadian cohort study in BMC PUBLIC HEALTH
  • 2016-01 Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-09 Living the PCSK9 Adventure: from the Identification of a New Gene in Familial Hypercholesterolemia Towards a Potential New Class of Anticholesterol Drugs in CURRENT ATHEROSCLEROSIS REPORTS
  • 2014-03 Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition in GENETICS IN MEDICINE
  • 2014-03 Association study of CRP gene in systemic sclerosis in European Caucasian population in RHEUMATOLOGY INTERNATIONAL
  • 2012-08 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome in NATURE GENETICS
  • 2012-06 Genetics of Thoracic Aortic Aneurysms in CURRENT ATHEROSCLEROSIS REPORTS
  • 2011-12 Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease) in ORPHANET JOURNAL OF RARE DISEASES
  • 2011-03 Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year in PEDIATRIC RESEARCH
  • 2010-11 A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-09 Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1] in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-02 Enhanced late-outgrowth circulating endothelial progenitor cell levels in rheumatoid arthritis and correlation with disease activity in ARTHRITIS RESEARCH & THERAPY
  • 2009-09 Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-04 Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2008-11 Identification in Daily Practice of Patients With Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): Revised Bethesda Guidelines-Based Approach Versus Molecular Screening in THE AMERICAN JOURNAL OF GASTROENTEROLOGY
  • 2004-08 Heterozygous TGFBR2 mutations in Marfan syndrome in NATURE GENETICS
  • 2004-03 Loss of heterozygosity on 10q and mutational status of PTEN and BMPR1A in colorectal primary tumours and metastases in BRITISH JOURNAL OF CANCER
  • 2004 The Marfan Mutation Database in MARFAN SYNDROME: A PRIMER FOR CLINICIANS AND SCIENTISTS
  • 2003-06 Mutations in PCSK9 cause autosomal dominant hypercholesterolemia in NATURE GENETICS
  • 2003-04-01 Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene in JOURNAL OF HUMAN GENETICS
  • 2002-11 Marfan syndrome in the third Millennium in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2001-08 No evidence of somatic FGFR3 mutation in various types of carcinoma in ONCOGENE
  • 2000-08 Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1999-11 Bone Mineral Density in Sixty Adult Patients with Marfan Syndrome in OSTEOPOROSIS INTERNATIONAL
  • 1995-03 Reply to “The question of heterogeneity in Marfan syndrome” in NATURE GENETICS
  • 1994-11 A second locus for Marfan syndrome maps to chromosome 3p24.2–p25 in NATURE GENETICS
  • 1993-06 Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene in HUMAN GENETICS
  • 1992-01 Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study in HUMAN GENETICS
  • 1991-07 Recurrent mutation at aa 792 in the LDL receptor gene in a French patient in HUMAN GENETICS
  • 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": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "affiliation": [
          {
            "affiliation": {
              "id": "https://www.grid.ac/institutes/grid.411119.d", 
              "type": "Organization"
            }, 
            "isCurrent": true, 
            "type": "OrganizationRole"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.50550.35", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.208078.5", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.410511.0", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.411720.1", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.31151.37", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.14848.31", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.418451.d", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.413756.2", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.412134.1", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.23856.3a", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.7452.4", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.462844.8", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.277151.7", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.17091.3e", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.12832.3a", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.7429.8", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.14709.3b", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.10992.33", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.412220.7", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.462324.5", 
            "type": "Organization"
          }
        ], 
        "familyName": "Boileau", 
        "givenName": "Catherine", 
        "id": "sg:person.0730446617.65", 
        "identifier": {
          "name": "orcid_id", 
          "type": "PropertyValue", 
          "value": [
            "0000-0002-0371-7539"
          ]
        }, 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730446617.65", 
          "https://orcid.org/0000-0002-0371-7539"
        ], 
        "sdDataset": "persons", 
        "sdDatePublished": "2019-03-07T15:10", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-researchers-20181010/20181011/dim_researchers/base/researchers_860.json", 
        "type": "Person"
      }
    ]
     

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

    HOW TO GET THIS DATA PROGRAMMATICALLY:

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

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/person.0730446617.65'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.0730446617.65'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/person.0730446617.65'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/person.0730446617.65'


     

    This table displays all metadata directly associated to this object as RDF triples.

    61 TRIPLES      11 PREDICATES      33 URIs      8 LITERALS      3 BLANK NODES

    Subject Predicate Object
    1 sg:person.0730446617.65 schema:affiliation N852a909429434cb88bdf4e4dad09e172
    2 https://www.grid.ac/institutes/grid.10992.33
    3 https://www.grid.ac/institutes/grid.12832.3a
    4 https://www.grid.ac/institutes/grid.14709.3b
    5 https://www.grid.ac/institutes/grid.14848.31
    6 https://www.grid.ac/institutes/grid.17091.3e
    7 https://www.grid.ac/institutes/grid.208078.5
    8 https://www.grid.ac/institutes/grid.23856.3a
    9 https://www.grid.ac/institutes/grid.277151.7
    10 https://www.grid.ac/institutes/grid.31151.37
    11 https://www.grid.ac/institutes/grid.410511.0
    12 https://www.grid.ac/institutes/grid.411720.1
    13 https://www.grid.ac/institutes/grid.412134.1
    14 https://www.grid.ac/institutes/grid.412220.7
    15 https://www.grid.ac/institutes/grid.413756.2
    16 https://www.grid.ac/institutes/grid.418451.d
    17 https://www.grid.ac/institutes/grid.462324.5
    18 https://www.grid.ac/institutes/grid.462844.8
    19 https://www.grid.ac/institutes/grid.50550.35
    20 https://www.grid.ac/institutes/grid.7429.8
    21 https://www.grid.ac/institutes/grid.7452.4
    22 schema:familyName Boileau
    23 schema:givenName Catherine
    24 schema:identifier N820cf33a9f3c4995a25c18ea05088356
    25 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730446617.65
    26 https://orcid.org/0000-0002-0371-7539
    27 schema:sdDatePublished 2019-03-07T15:10
    28 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    29 schema:sdPublisher N5e9f9bfc50f1450a87badaaf794c66c9
    30 sgo:license sg:explorer/license/
    31 sgo:sdDataset persons
    32 rdf:type schema:Person
    33 N5e9f9bfc50f1450a87badaaf794c66c9 schema:name Springer Nature - SN SciGraph project
    34 rdf:type schema:Organization
    35 N820cf33a9f3c4995a25c18ea05088356 schema:name orcid_id
    36 schema:value 0000-0002-0371-7539
    37 rdf:type schema:PropertyValue
    38 N852a909429434cb88bdf4e4dad09e172 schema:affiliation https://www.grid.ac/institutes/grid.411119.d
    39 sgo:isCurrent true
    40 rdf:type schema:OrganizationRole
    41 https://www.grid.ac/institutes/grid.10992.33 schema:Organization
    42 https://www.grid.ac/institutes/grid.12832.3a schema:Organization
    43 https://www.grid.ac/institutes/grid.14709.3b schema:Organization
    44 https://www.grid.ac/institutes/grid.14848.31 schema:Organization
    45 https://www.grid.ac/institutes/grid.17091.3e schema:Organization
    46 https://www.grid.ac/institutes/grid.208078.5 schema:Organization
    47 https://www.grid.ac/institutes/grid.23856.3a schema:Organization
    48 https://www.grid.ac/institutes/grid.277151.7 schema:Organization
    49 https://www.grid.ac/institutes/grid.31151.37 schema:Organization
    50 https://www.grid.ac/institutes/grid.410511.0 schema:Organization
    51 https://www.grid.ac/institutes/grid.411119.d schema:Organization
    52 https://www.grid.ac/institutes/grid.411720.1 schema:Organization
    53 https://www.grid.ac/institutes/grid.412134.1 schema:Organization
    54 https://www.grid.ac/institutes/grid.412220.7 schema:Organization
    55 https://www.grid.ac/institutes/grid.413756.2 schema:Organization
    56 https://www.grid.ac/institutes/grid.418451.d schema:Organization
    57 https://www.grid.ac/institutes/grid.462324.5 schema:Organization
    58 https://www.grid.ac/institutes/grid.462844.8 schema:Organization
    59 https://www.grid.ac/institutes/grid.50550.35 schema:Organization
    60 https://www.grid.ac/institutes/grid.7429.8 schema:Organization
    61 https://www.grid.ac/institutes/grid.7452.4 schema:Organization
     




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


    ...