High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

F. Extramiana, O. Milleron, S. Elbitar, A. Uccellini, M. Langeois, M. Spentchian, G. Delorme, F. Arnoult, I. Denjoy, C. Bouleti, V. Fressart, F. Iserin, P. Maison-Blanche, M. Abifadel, A. Leenhardt, C. Boileau, G. Jondeau

ABSTRACT

Mutations in the TGFβR2 gene have been associated with a life threatening risk of aortic dissection but no arrhythmic death has been previously reported. Two young females carrying a TGFβR2 mutation, initially diagnosed as Marfan syndrome or Loeys Dietz syndrome, presented sudden death with autopsy ruling out dissection. The ECGs of the 2 Sudden Cardiac Deaths revealed profound ventricular repolarization abnormalities with a sinusoidal T-U morphology associated with normal left ventricular ejection fraction. These data strongly suggest sudden cardiac arrhythmic deaths and prompted us to systematically study the repolarization pattern in the patients with TGFβR2 mutations. ECG findings from 58 mutation carriers patients (TGFβR2 group) were compared with those of 46 non-affected first degree relatives (control group). TGFβR2 mutation was associated with ventricular repolarization abnormalities in 47% of patients (p < 0.001 vs. controls), including a 19.6 ms (95%CI 8.7; 30.5) QTc interval prolongation compared to the non-affected first degree relatives (p < 0.001), higher prevalence of abnormal U waves (16% vs. 2%), and sinusoidal T-U morphology (10% vs. 0%). TGFβR2 mutations can be associated with abnormal ventricular repolarization pattern, longer QT interval than non-carrier relatives and an increased risk for sudden death. More... »

PAGES

13019

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41598-018-31298-5

DOI

http://dx.doi.org/10.1038/s41598-018-31298-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1106343709

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30158670


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

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", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1102", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Cardiorespiratory Medicine and Haematology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Paris Diderot University", 
          "id": "https://www.grid.ac/institutes/grid.7452.4", 
          "name": [
            "CNMR Maladies Cardiaques H\u00e9r\u00e9ditaires Rares, H\u00f4pital Bichat, 75018, Paris, France", 
            "Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, F-75018, Paris, France", 
            "AP-HP, Service de Cardiologie, H\u00f4pital Bichat, F-75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Extramiana", 
        "givenName": "F.", 
        "id": "sg:person.01300252264.93", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300252264.93"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Bichat-Claude-Bernard", 
          "id": "https://www.grid.ac/institutes/grid.411119.d", 
          "name": [
            "AP-HP, Service de Cardiologie, H\u00f4pital Bichat, F-75018, Paris, France", 
            "CNMR Syndrome de Marfan et apparent\u00e9s, H\u00f4pital Bichat, 75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Milleron", 
        "givenName": "O.", 
        "id": "sg:person.01102401127.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01102401127.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Bichat-Claude-Bernard", 
          "id": "https://www.grid.ac/institutes/grid.411119.d", 
          "name": [
            "Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Saint-Joseph University, Beirut, Lebanon", 
            "LVTS, INSERM U1148, H\u00f4pital Bichat, F-75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Elbitar", 
        "givenName": "S.", 
        "id": "sg:person.01143435220.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01143435220.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Bichat-Claude-Bernard", 
          "id": "https://www.grid.ac/institutes/grid.411119.d", 
          "name": [
            "CNMR Maladies Cardiaques H\u00e9r\u00e9ditaires Rares, H\u00f4pital Bichat, 75018, Paris, France", 
            "AP-HP, Service de Cardiologie, H\u00f4pital Bichat, F-75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Uccellini", 
        "givenName": "A.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Bichat-Claude-Bernard", 
          "id": "https://www.grid.ac/institutes/grid.411119.d", 
          "name": [
            "CNMR Syndrome de Marfan et apparent\u00e9s, H\u00f4pital Bichat, 75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Langeois", 
        "givenName": "M.", 
        "id": "sg:person.012743757511.20", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012743757511.20"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Bichat-Claude-Bernard", 
          "id": "https://www.grid.ac/institutes/grid.411119.d", 
          "name": [
            "CNMR Syndrome de Marfan et apparent\u00e9s, H\u00f4pital Bichat, 75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Spentchian", 
        "givenName": "M.", 
        "id": "sg:person.014647163147.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014647163147.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Bichat-Claude-Bernard", 
          "id": "https://www.grid.ac/institutes/grid.411119.d", 
          "name": [
            "CNMR Syndrome de Marfan et apparent\u00e9s, H\u00f4pital Bichat, 75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Delorme", 
        "givenName": "G.", 
        "id": "sg:person.0750732254.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0750732254.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Bichat-Claude-Bernard", 
          "id": "https://www.grid.ac/institutes/grid.411119.d", 
          "name": [
            "CNMR Syndrome de Marfan et apparent\u00e9s, H\u00f4pital Bichat, 75018, Paris, France", 
            "AP-HP, Service d\u2019Explorations Fonctionnelles, H\u00f4pital Bichat, F-75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Arnoult", 
        "givenName": "F.", 
        "id": "sg:person.0766152527.69", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0766152527.69"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Bichat-Claude-Bernard", 
          "id": "https://www.grid.ac/institutes/grid.411119.d", 
          "name": [
            "CNMR Maladies Cardiaques H\u00e9r\u00e9ditaires Rares, H\u00f4pital Bichat, 75018, Paris, France", 
            "AP-HP, Service de Cardiologie, H\u00f4pital Bichat, F-75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Denjoy", 
        "givenName": "I.", 
        "id": "sg:person.01237245130.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237245130.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Bichat-Claude-Bernard", 
          "id": "https://www.grid.ac/institutes/grid.411119.d", 
          "name": [
            "AP-HP, Service de Cardiologie, H\u00f4pital Bichat, F-75018, Paris, France", 
            "CNMR Syndrome de Marfan et apparent\u00e9s, H\u00f4pital Bichat, 75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bouleti", 
        "givenName": "C.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411439.a", 
          "name": [
            "INSERM U956, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris, France", 
            "AP-HP, Service de Biochimie M\u00e9tabolique, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, F-, 75013, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fressart", 
        "givenName": "V.", 
        "id": "sg:person.0653120516.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653120516.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "AP-HP, H\u00f4pital Necker - Enfants Malades, F-75015, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Iserin", 
        "givenName": "F.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Bichat-Claude-Bernard", 
          "id": "https://www.grid.ac/institutes/grid.411119.d", 
          "name": [
            "CNMR Maladies Cardiaques H\u00e9r\u00e9ditaires Rares, H\u00f4pital Bichat, 75018, Paris, France", 
            "AP-HP, Service de Cardiologie, H\u00f4pital Bichat, F-75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Maison-Blanche", 
        "givenName": "P.", 
        "id": "sg:person.01132531301.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01132531301.35"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Bichat-Claude-Bernard", 
          "id": "https://www.grid.ac/institutes/grid.411119.d", 
          "name": [
            "Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Saint-Joseph University, Beirut, Lebanon", 
            "LVTS, INSERM U1148, H\u00f4pital Bichat, F-75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Abifadel", 
        "givenName": "M.", 
        "id": "sg:person.01030060015.59", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01030060015.59"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Paris Diderot University", 
          "id": "https://www.grid.ac/institutes/grid.7452.4", 
          "name": [
            "CNMR Maladies Cardiaques H\u00e9r\u00e9ditaires Rares, H\u00f4pital Bichat, 75018, Paris, France", 
            "Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, F-75018, Paris, France", 
            "AP-HP, Service de Cardiologie, H\u00f4pital Bichat, F-75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Leenhardt", 
        "givenName": "A.", 
        "id": "sg:person.01115757751.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01115757751.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Bichat-Claude-Bernard", 
          "id": "https://www.grid.ac/institutes/grid.411119.d", 
          "name": [
            "Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, F-75018, Paris, France", 
            "CNMR Syndrome de Marfan et apparent\u00e9s, H\u00f4pital Bichat, 75018, Paris, France", 
            "LVTS, INSERM U1148, H\u00f4pital Bichat, F-75018, Paris, France", 
            "AP-HP, D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Bichat, F-75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Boileau", 
        "givenName": "C.", 
        "id": "sg:person.0730446617.65", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730446617.65"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Bichat-Claude-Bernard", 
          "id": "https://www.grid.ac/institutes/grid.411119.d", 
          "name": [
            "Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, F-75018, Paris, France", 
            "AP-HP, Service de Cardiologie, H\u00f4pital Bichat, F-75018, Paris, France", 
            "CNMR Syndrome de Marfan et apparent\u00e9s, H\u00f4pital Bichat, 75018, Paris, France", 
            "LVTS, INSERM U1148, H\u00f4pital Bichat, F-75018, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jondeau", 
        "givenName": "G.", 
        "id": "sg:person.0626101156.30", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0626101156.30"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.hrthm.2009.08.031", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000248658"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.gde.2015.06.009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001162401"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.gde.2015.06.009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001162401"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/eurheartj/ehu281", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001667884"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jacc.2013.02.060", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010804597"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1194-264", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010844741", 
          "https://doi.org/10.1038/ng1194-264"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0081281", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016296209"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1511", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016797415", 
          "https://doi.org/10.1038/ng1511"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1511", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016797415", 
          "https://doi.org/10.1038/ng1511"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/01.cir.103.1.89", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022847328"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0106602", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024427451"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/eurheartj/ehv316", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025400368"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jacc.2008.12.014", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025582351"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/circep.114.001837", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026504416"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/circep.114.001837", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026504416"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/eurheartj/ehv151", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029841137"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/cvr/cvs230", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030966633"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-0736(94)80039-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032229541"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-0736(94)80039-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032229541"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1365-2796.1997.115125000.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032482071"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/cvr/cvq230", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033417716"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/circulationaha.115.016291", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033718612"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/circulationaha.115.016291", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033718612"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1542-474x.2002.tb00189.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034866948"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0735-1097(02)02699-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040405156"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0735-1097(02)02699-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040405156"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/circulationaha.108.772533", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045625877"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/circulationaha.109.887042", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047063893"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ijcard.2012.06.036", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047837770"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.hrthm.2013.05.014", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048138355"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1392", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048234995", 
          "https://doi.org/10.1038/ng1392"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1392", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048234995", 
          "https://doi.org/10.1038/ng1392"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.4103/0976-500x.162004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050192219"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2009.072785", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052185421"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19960424)62:4<417::aid-ajmg15>3.0.co;2-r", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053284167"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/scitranslmed.3006448", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062687998"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/circgenetics.116.001485", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1063343135"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/circgenetics.116.001485", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1063343135"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.tcm.2017.07.010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090936427"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2018-12", 
    "datePublishedReg": "2018-12-01", 
    "description": "Mutations in the TGF\u03b2R2 gene have been associated with a life threatening risk of aortic dissection but no arrhythmic death has been previously reported. Two young females carrying a TGF\u03b2R2 mutation, initially diagnosed as Marfan syndrome or Loeys Dietz syndrome, presented sudden death with autopsy ruling out dissection. The ECGs of the 2 Sudden Cardiac Deaths revealed profound ventricular repolarization abnormalities with a sinusoidal T-U morphology associated with normal left ventricular ejection fraction. These data strongly suggest sudden cardiac arrhythmic deaths and prompted us to systematically study the repolarization pattern in the patients with TGF\u03b2R2 mutations. ECG findings from 58 mutation carriers patients (TGF\u03b2R2 group) were compared with those of 46 non-affected first degree relatives (control group). TGF\u03b2R2 mutation was associated with ventricular repolarization abnormalities in 47% of patients (p\u2009<\u20090.001 vs. controls), including a 19.6\u2009ms (95%CI 8.7; 30.5) QTc interval prolongation compared to the non-affected first degree relatives (p\u2009<\u20090.001), higher prevalence of abnormal U waves (16% vs. 2%), and sinusoidal T-U morphology (10% vs. 0%). TGF\u03b2R2 mutations can be associated with abnormal ventricular repolarization pattern, longer QT interval than non-carrier relatives and an increased risk for sudden death.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/s41598-018-31298-5", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.4526622", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1045337", 
        "issn": [
          "2045-2322"
        ], 
        "name": "Scientific Reports", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "8"
      }
    ], 
    "name": "High prevalence of ventricular repolarization abnormalities in people carrying TGF\u03b2R2 mutations", 
    "pagination": "13019", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "dbaa3741c54fa6e7eefdc18e3e00b55b7c3ecf99cbe8e3f33ba880abdbf155ad"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30158670"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101563288"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s41598-018-31298-5"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1106343709"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s41598-018-31298-5", 
      "https://app.dimensions.ai/details/publication/pub.1106343709"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T17:40", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8672_00000571.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/s41598-018-31298-5"
  }
]
 

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/pub.10.1038/s41598-018-31298-5'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41598-018-31298-5'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41598-018-31298-5'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41598-018-31298-5'


 

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

294 TRIPLES      21 PREDICATES      60 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s41598-018-31298-5 schema:about anzsrc-for:11
2 anzsrc-for:1102
3 schema:author N849b1f02437246be85607637c0886452
4 schema:citation sg:pub.10.1038/ng1194-264
5 sg:pub.10.1038/ng1392
6 sg:pub.10.1038/ng1511
7 https://doi.org/10.1002/(sici)1096-8628(19960424)62:4<417::aid-ajmg15>3.0.co;2-r
8 https://doi.org/10.1016/j.gde.2015.06.009
9 https://doi.org/10.1016/j.hrthm.2009.08.031
10 https://doi.org/10.1016/j.hrthm.2013.05.014
11 https://doi.org/10.1016/j.ijcard.2012.06.036
12 https://doi.org/10.1016/j.jacc.2008.12.014
13 https://doi.org/10.1016/j.jacc.2013.02.060
14 https://doi.org/10.1016/j.tcm.2017.07.010
15 https://doi.org/10.1016/s0022-0736(94)80039-1
16 https://doi.org/10.1016/s0735-1097(02)02699-2
17 https://doi.org/10.1046/j.1365-2796.1997.115125000.x
18 https://doi.org/10.1093/cvr/cvq230
19 https://doi.org/10.1093/cvr/cvs230
20 https://doi.org/10.1093/eurheartj/ehu281
21 https://doi.org/10.1093/eurheartj/ehv151
22 https://doi.org/10.1093/eurheartj/ehv316
23 https://doi.org/10.1111/j.1542-474x.2002.tb00189.x
24 https://doi.org/10.1126/scitranslmed.3006448
25 https://doi.org/10.1136/jmg.2009.072785
26 https://doi.org/10.1161/01.cir.103.1.89
27 https://doi.org/10.1161/circep.114.001837
28 https://doi.org/10.1161/circgenetics.116.001485
29 https://doi.org/10.1161/circulationaha.108.772533
30 https://doi.org/10.1161/circulationaha.109.887042
31 https://doi.org/10.1161/circulationaha.115.016291
32 https://doi.org/10.1371/journal.pone.0081281
33 https://doi.org/10.1371/journal.pone.0106602
34 https://doi.org/10.4103/0976-500x.162004
35 schema:datePublished 2018-12
36 schema:datePublishedReg 2018-12-01
37 schema:description Mutations in the TGFβR2 gene have been associated with a life threatening risk of aortic dissection but no arrhythmic death has been previously reported. Two young females carrying a TGFβR2 mutation, initially diagnosed as Marfan syndrome or Loeys Dietz syndrome, presented sudden death with autopsy ruling out dissection. The ECGs of the 2 Sudden Cardiac Deaths revealed profound ventricular repolarization abnormalities with a sinusoidal T-U morphology associated with normal left ventricular ejection fraction. These data strongly suggest sudden cardiac arrhythmic deaths and prompted us to systematically study the repolarization pattern in the patients with TGFβR2 mutations. ECG findings from 58 mutation carriers patients (TGFβR2 group) were compared with those of 46 non-affected first degree relatives (control group). TGFβR2 mutation was associated with ventricular repolarization abnormalities in 47% of patients (p < 0.001 vs. controls), including a 19.6 ms (95%CI 8.7; 30.5) QTc interval prolongation compared to the non-affected first degree relatives (p < 0.001), higher prevalence of abnormal U waves (16% vs. 2%), and sinusoidal T-U morphology (10% vs. 0%). TGFβR2 mutations can be associated with abnormal ventricular repolarization pattern, longer QT interval than non-carrier relatives and an increased risk for sudden death.
38 schema:genre research_article
39 schema:inLanguage en
40 schema:isAccessibleForFree true
41 schema:isPartOf Na8194bc6a738488a99eb5c73428f8906
42 Nac3c1ded654f4bf98ec210ea26587416
43 sg:journal.1045337
44 schema:name High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations
45 schema:pagination 13019
46 schema:productId N0b8cfaf6ce4243bf922976151db15062
47 N237e4efa752e490cbdc90ff44e5cfbe1
48 N6a214d37546743beadbecd34159f5476
49 N6e136ab3e98e4537a4d1121b4b8692a8
50 N87e3af0af0f14379bd205c721cacf680
51 schema:sameAs https://app.dimensions.ai/details/publication/pub.1106343709
52 https://doi.org/10.1038/s41598-018-31298-5
53 schema:sdDatePublished 2019-04-10T17:40
54 schema:sdLicense https://scigraph.springernature.com/explorer/license/
55 schema:sdPublisher N31f4aa18fec6465bb88213f18addb3ce
56 schema:url https://www.nature.com/articles/s41598-018-31298-5
57 sgo:license sg:explorer/license/
58 sgo:sdDataset articles
59 rdf:type schema:ScholarlyArticle
60 N021323353c29429b9607da3391d3b639 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
61 schema:familyName Iserin
62 schema:givenName F.
63 rdf:type schema:Person
64 N0b8cfaf6ce4243bf922976151db15062 schema:name dimensions_id
65 schema:value pub.1106343709
66 rdf:type schema:PropertyValue
67 N1b6bdca1babe41fc91cfdd1321aef1be rdf:first Nfd1e5f9c632c49a0a0a2166130535050
68 rdf:rest N6f8f3169ad1e43b9a73bf8d50eca4bde
69 N237e4efa752e490cbdc90ff44e5cfbe1 schema:name nlm_unique_id
70 schema:value 101563288
71 rdf:type schema:PropertyValue
72 N2ff1628d16714976a7dd7f0ec3b8ab3e rdf:first sg:person.0766152527.69
73 rdf:rest N36542d7cfbe3426b98892d252b332b9f
74 N31f4aa18fec6465bb88213f18addb3ce schema:name Springer Nature - SN SciGraph project
75 rdf:type schema:Organization
76 N36542d7cfbe3426b98892d252b332b9f rdf:first sg:person.01237245130.40
77 rdf:rest Nb77e71dc9ead4f199301306724b35ced
78 N393a7ae9cd29450cb8dda407e0566104 rdf:first sg:person.0750732254.18
79 rdf:rest N2ff1628d16714976a7dd7f0ec3b8ab3e
80 N485c54dd2ad04abb852ab4f741d7cd04 schema:affiliation https://www.grid.ac/institutes/grid.411119.d
81 schema:familyName Bouleti
82 schema:givenName C.
83 rdf:type schema:Person
84 N6a214d37546743beadbecd34159f5476 schema:name pubmed_id
85 schema:value 30158670
86 rdf:type schema:PropertyValue
87 N6e136ab3e98e4537a4d1121b4b8692a8 schema:name doi
88 schema:value 10.1038/s41598-018-31298-5
89 rdf:type schema:PropertyValue
90 N6f8f3169ad1e43b9a73bf8d50eca4bde rdf:first sg:person.012743757511.20
91 rdf:rest Nd200c6d0fc874c579ef64af128d739da
92 N6fb076f1d3964841bac83a962150dfe7 rdf:first N021323353c29429b9607da3391d3b639
93 rdf:rest Na442d0768f824bce9034bb81e49804a0
94 N849b1f02437246be85607637c0886452 rdf:first sg:person.01300252264.93
95 rdf:rest Ned489fcc3881493d97776bae82ead5b7
96 N87e3af0af0f14379bd205c721cacf680 schema:name readcube_id
97 schema:value dbaa3741c54fa6e7eefdc18e3e00b55b7c3ecf99cbe8e3f33ba880abdbf155ad
98 rdf:type schema:PropertyValue
99 N8a3db1614d754942886828b3ece2c7de rdf:first sg:person.0730446617.65
100 rdf:rest Ne2c215f8910446bc8ca841e100c8898d
101 N8d874687d410419ba4b8f6725add329b rdf:first sg:person.01030060015.59
102 rdf:rest Nc53583aeabd44890b4008f478844073d
103 Na442d0768f824bce9034bb81e49804a0 rdf:first sg:person.01132531301.35
104 rdf:rest N8d874687d410419ba4b8f6725add329b
105 Na8194bc6a738488a99eb5c73428f8906 schema:issueNumber 1
106 rdf:type schema:PublicationIssue
107 Nac3c1ded654f4bf98ec210ea26587416 schema:volumeNumber 8
108 rdf:type schema:PublicationVolume
109 Nb77e71dc9ead4f199301306724b35ced rdf:first N485c54dd2ad04abb852ab4f741d7cd04
110 rdf:rest Nfa87442054f849abb5eb66b5cc990ace
111 Nc53583aeabd44890b4008f478844073d rdf:first sg:person.01115757751.84
112 rdf:rest N8a3db1614d754942886828b3ece2c7de
113 Nd200c6d0fc874c579ef64af128d739da rdf:first sg:person.014647163147.84
114 rdf:rest N393a7ae9cd29450cb8dda407e0566104
115 Ne2c215f8910446bc8ca841e100c8898d rdf:first sg:person.0626101156.30
116 rdf:rest rdf:nil
117 Ned489fcc3881493d97776bae82ead5b7 rdf:first sg:person.01102401127.14
118 rdf:rest Nf8ee8abed1d4426a82877d807571151b
119 Nf8ee8abed1d4426a82877d807571151b rdf:first sg:person.01143435220.28
120 rdf:rest N1b6bdca1babe41fc91cfdd1321aef1be
121 Nfa87442054f849abb5eb66b5cc990ace rdf:first sg:person.0653120516.22
122 rdf:rest N6fb076f1d3964841bac83a962150dfe7
123 Nfd1e5f9c632c49a0a0a2166130535050 schema:affiliation https://www.grid.ac/institutes/grid.411119.d
124 schema:familyName Uccellini
125 schema:givenName A.
126 rdf:type schema:Person
127 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
128 schema:name Medical and Health Sciences
129 rdf:type schema:DefinedTerm
130 anzsrc-for:1102 schema:inDefinedTermSet anzsrc-for:
131 schema:name Cardiorespiratory Medicine and Haematology
132 rdf:type schema:DefinedTerm
133 sg:grant.4526622 http://pending.schema.org/fundedItem sg:pub.10.1038/s41598-018-31298-5
134 rdf:type schema:MonetaryGrant
135 sg:journal.1045337 schema:issn 2045-2322
136 schema:name Scientific Reports
137 rdf:type schema:Periodical
138 sg:person.01030060015.59 schema:affiliation https://www.grid.ac/institutes/grid.411119.d
139 schema:familyName Abifadel
140 schema:givenName M.
141 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01030060015.59
142 rdf:type schema:Person
143 sg:person.01102401127.14 schema:affiliation https://www.grid.ac/institutes/grid.411119.d
144 schema:familyName Milleron
145 schema:givenName O.
146 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01102401127.14
147 rdf:type schema:Person
148 sg:person.01115757751.84 schema:affiliation https://www.grid.ac/institutes/grid.7452.4
149 schema:familyName Leenhardt
150 schema:givenName A.
151 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01115757751.84
152 rdf:type schema:Person
153 sg:person.01132531301.35 schema:affiliation https://www.grid.ac/institutes/grid.411119.d
154 schema:familyName Maison-Blanche
155 schema:givenName P.
156 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01132531301.35
157 rdf:type schema:Person
158 sg:person.01143435220.28 schema:affiliation https://www.grid.ac/institutes/grid.411119.d
159 schema:familyName Elbitar
160 schema:givenName S.
161 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01143435220.28
162 rdf:type schema:Person
163 sg:person.01237245130.40 schema:affiliation https://www.grid.ac/institutes/grid.411119.d
164 schema:familyName Denjoy
165 schema:givenName I.
166 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237245130.40
167 rdf:type schema:Person
168 sg:person.012743757511.20 schema:affiliation https://www.grid.ac/institutes/grid.411119.d
169 schema:familyName Langeois
170 schema:givenName M.
171 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012743757511.20
172 rdf:type schema:Person
173 sg:person.01300252264.93 schema:affiliation https://www.grid.ac/institutes/grid.7452.4
174 schema:familyName Extramiana
175 schema:givenName F.
176 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300252264.93
177 rdf:type schema:Person
178 sg:person.014647163147.84 schema:affiliation https://www.grid.ac/institutes/grid.411119.d
179 schema:familyName Spentchian
180 schema:givenName M.
181 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014647163147.84
182 rdf:type schema:Person
183 sg:person.0626101156.30 schema:affiliation https://www.grid.ac/institutes/grid.411119.d
184 schema:familyName Jondeau
185 schema:givenName G.
186 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0626101156.30
187 rdf:type schema:Person
188 sg:person.0653120516.22 schema:affiliation https://www.grid.ac/institutes/grid.411439.a
189 schema:familyName Fressart
190 schema:givenName V.
191 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653120516.22
192 rdf:type schema:Person
193 sg:person.0730446617.65 schema:affiliation https://www.grid.ac/institutes/grid.411119.d
194 schema:familyName Boileau
195 schema:givenName C.
196 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730446617.65
197 rdf:type schema:Person
198 sg:person.0750732254.18 schema:affiliation https://www.grid.ac/institutes/grid.411119.d
199 schema:familyName Delorme
200 schema:givenName G.
201 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0750732254.18
202 rdf:type schema:Person
203 sg:person.0766152527.69 schema:affiliation https://www.grid.ac/institutes/grid.411119.d
204 schema:familyName Arnoult
205 schema:givenName F.
206 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0766152527.69
207 rdf:type schema:Person
208 sg:pub.10.1038/ng1194-264 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010844741
209 https://doi.org/10.1038/ng1194-264
210 rdf:type schema:CreativeWork
211 sg:pub.10.1038/ng1392 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048234995
212 https://doi.org/10.1038/ng1392
213 rdf:type schema:CreativeWork
214 sg:pub.10.1038/ng1511 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016797415
215 https://doi.org/10.1038/ng1511
216 rdf:type schema:CreativeWork
217 https://doi.org/10.1002/(sici)1096-8628(19960424)62:4<417::aid-ajmg15>3.0.co;2-r schema:sameAs https://app.dimensions.ai/details/publication/pub.1053284167
218 rdf:type schema:CreativeWork
219 https://doi.org/10.1016/j.gde.2015.06.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001162401
220 rdf:type schema:CreativeWork
221 https://doi.org/10.1016/j.hrthm.2009.08.031 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000248658
222 rdf:type schema:CreativeWork
223 https://doi.org/10.1016/j.hrthm.2013.05.014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048138355
224 rdf:type schema:CreativeWork
225 https://doi.org/10.1016/j.ijcard.2012.06.036 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047837770
226 rdf:type schema:CreativeWork
227 https://doi.org/10.1016/j.jacc.2008.12.014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025582351
228 rdf:type schema:CreativeWork
229 https://doi.org/10.1016/j.jacc.2013.02.060 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010804597
230 rdf:type schema:CreativeWork
231 https://doi.org/10.1016/j.tcm.2017.07.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090936427
232 rdf:type schema:CreativeWork
233 https://doi.org/10.1016/s0022-0736(94)80039-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032229541
234 rdf:type schema:CreativeWork
235 https://doi.org/10.1016/s0735-1097(02)02699-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040405156
236 rdf:type schema:CreativeWork
237 https://doi.org/10.1046/j.1365-2796.1997.115125000.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1032482071
238 rdf:type schema:CreativeWork
239 https://doi.org/10.1093/cvr/cvq230 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033417716
240 rdf:type schema:CreativeWork
241 https://doi.org/10.1093/cvr/cvs230 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030966633
242 rdf:type schema:CreativeWork
243 https://doi.org/10.1093/eurheartj/ehu281 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001667884
244 rdf:type schema:CreativeWork
245 https://doi.org/10.1093/eurheartj/ehv151 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029841137
246 rdf:type schema:CreativeWork
247 https://doi.org/10.1093/eurheartj/ehv316 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025400368
248 rdf:type schema:CreativeWork
249 https://doi.org/10.1111/j.1542-474x.2002.tb00189.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1034866948
250 rdf:type schema:CreativeWork
251 https://doi.org/10.1126/scitranslmed.3006448 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062687998
252 rdf:type schema:CreativeWork
253 https://doi.org/10.1136/jmg.2009.072785 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052185421
254 rdf:type schema:CreativeWork
255 https://doi.org/10.1161/01.cir.103.1.89 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022847328
256 rdf:type schema:CreativeWork
257 https://doi.org/10.1161/circep.114.001837 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026504416
258 rdf:type schema:CreativeWork
259 https://doi.org/10.1161/circgenetics.116.001485 schema:sameAs https://app.dimensions.ai/details/publication/pub.1063343135
260 rdf:type schema:CreativeWork
261 https://doi.org/10.1161/circulationaha.108.772533 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045625877
262 rdf:type schema:CreativeWork
263 https://doi.org/10.1161/circulationaha.109.887042 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047063893
264 rdf:type schema:CreativeWork
265 https://doi.org/10.1161/circulationaha.115.016291 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033718612
266 rdf:type schema:CreativeWork
267 https://doi.org/10.1371/journal.pone.0081281 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016296209
268 rdf:type schema:CreativeWork
269 https://doi.org/10.1371/journal.pone.0106602 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024427451
270 rdf:type schema:CreativeWork
271 https://doi.org/10.4103/0976-500x.162004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050192219
272 rdf:type schema:CreativeWork
273 https://www.grid.ac/institutes/grid.411119.d schema:alternateName Hôpital Bichat-Claude-Bernard
274 schema:name AP-HP, Département de Génétique, Hôpital Bichat, F-75018, Paris, France
275 AP-HP, Service de Cardiologie, Hôpital Bichat, F-75018, Paris, France
276 AP-HP, Service d’Explorations Fonctionnelles, Hôpital Bichat, F-75018, Paris, France
277 CNMR Maladies Cardiaques Héréditaires Rares, Hôpital Bichat, 75018, Paris, France
278 CNMR Syndrome de Marfan et apparentés, Hôpital Bichat, 75018, Paris, France
279 LVTS, INSERM U1148, Hôpital Bichat, F-75018, Paris, France
280 Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Saint-Joseph University, Beirut, Lebanon
281 Université Paris Diderot, Sorbonne Paris Cité, F-75018, Paris, France
282 rdf:type schema:Organization
283 https://www.grid.ac/institutes/grid.411439.a schema:alternateName Pitié-Salpêtrière Hospital
284 schema:name AP-HP, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière, F-, 75013, Paris, France
285 INSERM U956, Hôpital Pitié-Salpêtrière, F-75013, Paris, France
286 rdf:type schema:Organization
287 https://www.grid.ac/institutes/grid.412134.1 schema:alternateName Necker-Enfants Malades Hospital
288 schema:name AP-HP, Hôpital Necker - Enfants Malades, F-75015, Paris, France
289 rdf:type schema:Organization
290 https://www.grid.ac/institutes/grid.7452.4 schema:alternateName Paris Diderot University
291 schema:name AP-HP, Service de Cardiologie, Hôpital Bichat, F-75018, Paris, France
292 CNMR Maladies Cardiaques Héréditaires Rares, Hôpital Bichat, 75018, Paris, France
293 Université Paris Diderot, Sorbonne Paris Cité, F-75018, Paris, France
294 rdf:type schema:Organization
 




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


...