Marco Castori


Ontology type: schema:Person     


Person Info

NAME

Marco

SURNAME

Castori

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
  • 2009 Hypochondrogenesis in ENCYCLOPEDIA OF MOLECULAR MECHANISMS OF 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
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