Marco Castori

Ontology type: schema:Person     

Person Info





Publications in SciGraph latest 50 shown

  • 2020-12-11 Genetic mechanisms of critical illness in COVID-19 in NATURE
  • 2020-08-05 Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence) in ORPHANET JOURNAL OF RARE DISEASES
  • 2020-07-30 The Ehlers–Danlos syndromes in NATURE REVIEWS DISEASE PRIMERS
  • 2020-07-17 ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2020-07-08 Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2020-06-25 Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2 in NEUROLOGICAL SCIENCES
  • 2020-05-27 The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate in ITALIAN JOURNAL OF PEDIATRICS
  • 2020-05-12 Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial in TRIALS
  • 2019-02-20 A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-06-18 Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass in CURRENT OSTEOPOROSIS REPORTS
  • 2018-06-11 Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-02-21 A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-02-14 Attention-deficit/hyperactivity disorder, joint hypermobility-related disorders and pain: expanding body-mind connections to the developmental age in ADHD ATTENTION DEFICIT AND HYPERACTIVITY DISORDERS
  • 2018-01-18 Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-03-20 A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers–Danlos syndrome, hypermobility type in NEUROLOGICAL SCIENCES
  • 2015-03-18 Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema–Distichiasis Syndrome in JOURNAL OF MAXILLOFACIAL AND ORAL SURGERY
  • 2015-01-15 Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder in INTERNAL AND EMERGENCY MEDICINE
  • 2014-07-23 Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-04-22 Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type in CLINICAL RHEUMATOLOGY
  • 2013-11-23 Unexpected association between joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type and obsessive–compulsive personality disorder in RHEUMATOLOGY INTERNATIONAL
  • 2013-09-22 Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report in BMC RESEARCH NOTES
  • 2012-02-26 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome in NATURE GENETICS
  • 2011-12-25 Analysis of the miR-34a locus in 62 patients with familial cutaneous melanoma negative for CDKN2A/CDK4 screening in FAMILIAL CANCER
  • 2011-12-23 Ehlers–Danlos syndrome hypermobility type: a possible unifying concept for various functional somatic syndromes in RHEUMATOLOGY INTERNATIONAL
  • 2011-10-25 Growth in Distal Arthrogryposes in HANDBOOK OF GROWTH AND GROWTH MONITORING IN HEALTH AND DISEASE
  • 2011-07-27 Evaluation of lower limb disability in joint hypermobility syndrome in RHEUMATOLOGY INTERNATIONAL
  • 2011-03-16 Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010 Genetics in CROHN’S DISEASE
  • 2006-05-07 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome in NATURE GENETICS
  • 2006-01-24 Hypochondrogenesis in PEDIATRIC RADIOLOGY
  • 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"
            "id": "", 
            "type": "Organization"
            "id": "", 
            "type": "Organization"
            "id": "", 
            "type": "Organization"
        "familyName": "Castori", 
        "givenName": "Marco", 
        "id": "sg:person.01113175067.53", 
        "identifier": [
            "name": "orcid_id", 
            "type": "PropertyValue", 
            "value": "0000-0002-6069-0993"
        "sameAs": [
        "sdDataset": "persons", 
        "sdDatePublished": "2021-12-01T20:43", 
        "sdLicense": "", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        "sdSource": "s3://com-springernature-scigraph/baseset/20211201/entities/gbq_results/person/person_830.jsonl", 
        "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' ''


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

    33 TRIPLES      11 PREDICATES      19 URIs      8 LITERALS      3 BLANK NODES

    Subject Predicate Object
    1 sg:person.01113175067.53 schema:affiliation Na3d8c4b1f84547ba9d49136d1f59cd20
    2 grid-institutes:grid.134563.6
    3 grid-institutes:grid.414603.4
    4 grid-institutes:grid.416308.8
    5 grid-institutes:grid.417007.5
    6 grid-institutes:grid.419457.a
    7 grid-institutes:grid.7841.a
    8 schema:familyName Castori
    9 schema:givenName Marco
    10 schema:identifier Nd1a5ea8ac6fb4807a1e00c0d82826d93
    11 schema:sameAs
    13 schema:sdDatePublished 2021-12-01T20:43
    14 schema:sdLicense
    15 schema:sdPublisher N0152d4dbc9d94d7eb9733cfdd842e66c
    16 sgo:license sg:explorer/license/
    17 sgo:sdDataset persons
    18 rdf:type schema:Person
    19 N0152d4dbc9d94d7eb9733cfdd842e66c schema:name Springer Nature - SN SciGraph project
    20 rdf:type schema:Organization
    21 Na3d8c4b1f84547ba9d49136d1f59cd20 schema:affiliation grid-institutes:grid.413503.0
    22 sgo:isCurrent true
    23 rdf:type schema:OrganizationRole
    24 Nd1a5ea8ac6fb4807a1e00c0d82826d93 schema:name orcid_id
    25 schema:value 0000-0002-6069-0993
    26 rdf:type schema:PropertyValue
    27 grid-institutes:grid.134563.6 schema:Organization
    28 grid-institutes:grid.413503.0 schema:Organization
    29 grid-institutes:grid.414603.4 schema:Organization
    30 grid-institutes:grid.416308.8 schema:Organization
    31 grid-institutes:grid.417007.5 schema:Organization
    32 grid-institutes:grid.419457.a schema:Organization
    33 grid-institutes:grid.7841.a schema:Organization

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