Dianna M Milewicz

Ontology type: schema:Person     

Person Info


Dianna M



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 Genome-wide analysis yields new loci associating with aortic valve stenosis in NATURE COMMUNICATIONS
  • 2018-12 Epidemiology of Childhood Onset Essential Hypertension in JOURNAL OF HUMAN HYPERTENSION
  • 2018-12 Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-10 Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations in GENETICS IN MEDICINE
  • 2017-12 Asprosin is a centrally acting orexigenic hormone in NATURE MEDICINE
  • 2017-12 Critical Role of ADAMTS-4 in the Development of Sporadic Aortic Aneurysm and Dissection in Mice in SCIENTIFIC REPORTS
  • 2017-10 Abstracts from the 8th International Conference on cGMP Generators, Effectors and Therapeutic Implications in BMC PHARMACOLOGY AND TOXICOLOGY
  • 2017-05-25 Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve in NATURE COMMUNICATIONS
  • 2017-02 Nitric oxide mediates aortic disease in mice deficient in the metalloprotease Adamts1 and in a mouse model of Marfan syndrome in NATURE MEDICINE
  • 2015-12 Arterial tortuosity and change with age in young patients with aortopathy in JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE
  • 2015-12 The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2015-09 Ultra High-Resolution In vivo Computed Tomography Imaging of Mouse Cerebrovasculature Using a Long Circulating Blood Pool Contrast Agent in SCIENTIFIC REPORTS
  • 2014-08 Loeys–Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling in GENETICS IN MEDICINE
  • 2014-01 Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome in GENETICS IN MEDICINE
  • 2014-01 Corrigendum: Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome in GENETICS IN MEDICINE
  • 2014-01 Vertebral artery tortuosity in Turner syndrome: is tortuosity a component of the aortopathy phenotype? in JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE
  • 2012-08 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome in NATURE GENETICS
  • 2011-10 Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1 in NATURE GENETICS
  • 2010-04 Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: Evidence for a hyperplastic vasculomyopathy in GENETICS IN MEDICINE
  • 2009-11-20 The genetics of colored sequence synesthesia: Evidence of linkage to chromosome 16q and genetic heterogeneity for the condition in NATURE PRECEDINGS
  • 2008-12 An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease in JOURNAL OF HUMAN GENETICS
  • 2008-02 Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections in NATURE GENETICS
  • 2007-12 A Marfan syndrome gene expression phenotype in cultured skin fibroblasts in BMC GENOMICS
  • 2007-12 Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections in NATURE GENETICS
  • 2007-03 Severe aortic and arterial aneurysms associated with a TGFBR2 mutation in NATURE REVIEWS CARDIOLOGY
  • 2007 Genetic Aspects of Congenital Heart Disease in CARDIOVASCULAR MEDICINE
  • 2007 Classification of Genetic Disorders in CARDIOVASCULAR MEDICINE
  • 2007 Inherited Disorders of Connective Tissue in CARDIOVASCULAR MEDICINE
  • 2006-11-17 Universal Primer Applications for Pyrosequencing<sup>®</sup> in PYROSEQUENCING PROTOCOLS
  • 2004 Familial Thoracic Aortic Aneurysms and Dissections in MARFAN SYNDROME: A PRIMER FOR CLINICIANS AND SCIENTISTS
  • 2003-12 Methodology for using a universal primer to label amplified DNA segments for molecular analysis in BIOTECHNOLOGY LETTERS
  • 2003-10 High throughput detection of small genomic insertions or deletions by Pyrosequencing in BIOTECHNOLOGY LETTERS
  • 2000-01 Familial aortic aneurysms in GENETICS IN MEDICINE
  • 1999 Inherited disorders of the aorta in DIAGNOSIS AND TREATMENT OF AORTIC DISEASES
  • 1996-02 A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific in JOURNAL OF MOLECULAR EVOLUTION
  • 1995-12 Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactyly in NATURE 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.267308.8", 
              "type": "Organization"
            "isCurrent": true, 
            "type": "OrganizationRole"
            "id": "https://www.grid.ac/institutes/grid.21107.35", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.280718.4", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.176731.5", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.47100.32", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.467824.b", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.416986.4", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.5386.8", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.39382.33", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.4367.6", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.416470.0", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.66875.3a", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.34477.33", 
            "type": "Organization"
        "familyName": "Milewicz", 
        "givenName": "Dianna M", 
        "id": "sg:person.016443576037.54", 
        "sameAs": [
        "sdDataset": "persons", 
        "sdDatePublished": "2019-03-07T13:34", 
        "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_1358.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' 'https://scigraph.springernature.com/person.016443576037.54'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.016443576037.54'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/person.016443576037.54'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/person.016443576037.54'


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

    40 TRIPLES      10 PREDICATES      23 URIs      7 LITERALS      2 BLANK NODES

    Subject Predicate Object
    1 sg:person.016443576037.54 schema:affiliation Ndb968830f0a44d9ab47187031858ce58
    2 https://www.grid.ac/institutes/grid.176731.5
    3 https://www.grid.ac/institutes/grid.21107.35
    4 https://www.grid.ac/institutes/grid.280718.4
    5 https://www.grid.ac/institutes/grid.34477.33
    6 https://www.grid.ac/institutes/grid.39382.33
    7 https://www.grid.ac/institutes/grid.416470.0
    8 https://www.grid.ac/institutes/grid.416986.4
    9 https://www.grid.ac/institutes/grid.4367.6
    10 https://www.grid.ac/institutes/grid.467824.b
    11 https://www.grid.ac/institutes/grid.47100.32
    12 https://www.grid.ac/institutes/grid.5386.8
    13 https://www.grid.ac/institutes/grid.66875.3a
    14 schema:familyName Milewicz
    15 schema:givenName Dianna M
    16 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016443576037.54
    17 schema:sdDatePublished 2019-03-07T13:34
    18 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    19 schema:sdPublisher Ne1da845aeaa340ddb78f5a43b798aeb6
    20 sgo:license sg:explorer/license/
    21 sgo:sdDataset persons
    22 rdf:type schema:Person
    23 Ndb968830f0a44d9ab47187031858ce58 schema:affiliation https://www.grid.ac/institutes/grid.267308.8
    24 sgo:isCurrent true
    25 rdf:type schema:OrganizationRole
    26 Ne1da845aeaa340ddb78f5a43b798aeb6 schema:name Springer Nature - SN SciGraph project
    27 rdf:type schema:Organization
    28 https://www.grid.ac/institutes/grid.176731.5 schema:Organization
    29 https://www.grid.ac/institutes/grid.21107.35 schema:Organization
    30 https://www.grid.ac/institutes/grid.267308.8 schema:Organization
    31 https://www.grid.ac/institutes/grid.280718.4 schema:Organization
    32 https://www.grid.ac/institutes/grid.34477.33 schema:Organization
    33 https://www.grid.ac/institutes/grid.39382.33 schema:Organization
    34 https://www.grid.ac/institutes/grid.416470.0 schema:Organization
    35 https://www.grid.ac/institutes/grid.416986.4 schema:Organization
    36 https://www.grid.ac/institutes/grid.4367.6 schema:Organization
    37 https://www.grid.ac/institutes/grid.467824.b schema:Organization
    38 https://www.grid.ac/institutes/grid.47100.32 schema:Organization
    39 https://www.grid.ac/institutes/grid.5386.8 schema:Organization
    40 https://www.grid.ac/institutes/grid.66875.3a schema:Organization

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