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Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
Elbitar, Sandy; Renard, Marjolijn; Arnaud, Pauline; Hanna, Nadine; Jacob, Marie-Paule; Guo, Dong-Chuan; Tsutsui, Ko; Gross, Marie-Sylvie; Kessler, Ketty; Tosolini, Laurent; Dattilo, Vincenzo; Dupont, Sebastien; Jonquet, Jeremie; Langeois, Maud; Benarroch, Louise; Aubart, Melodie; Ghaleb, Youmna; Abou Khalil, Yara; Varret, Mathilde; El Khoury, Petra; Ho-Tin-Noé, Benoit; Alembik, Yves; Gaertner, Sébastien; Isidor, Bertrand; Gouya, Laurent; Milleron, Olivier; Sekiguchi, Kiyotoshi; Milewicz, Dianna; De Backer, Julie; Le Goff, Carine; Michel, Jean-Baptiste; Jondeau, Guillaume; Sakai, Lynn Y; Boileau, Catherine; Abifadel, Marianne.
Afiliación
  • Elbitar S; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Renard M; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie-Santé, Saint Joseph University of Beirut, Beirut, Lebanon.
  • Arnaud P; Center for Medical Genetics, Ghent University, Ghent, Belgium.
  • Hanna N; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Jacob MP; Département de Génétique, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Guo DC; Hospitalo-Universitaire Xavier Bichat, APHP, Centre de Référence Maladies Rares, Syndrome de Marfan et pathologies apparentées, Paris, France.
  • Tsutsui K; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Gross MS; Département de Génétique, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Kessler K; Hospitalo-Universitaire Xavier Bichat, APHP, Centre de Référence Maladies Rares, Syndrome de Marfan et pathologies apparentées, Paris, France.
  • Tosolini L; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Dattilo V; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, Houston, TX, USA.
  • Dupont S; Institute for Protein Research, Osaka University, Suita, Osaka, Japan.
  • Jonquet J; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Langeois M; Centre for Evolution and Cancer, Division of Molecular Pathology, Division of Cancer Therapeutics, The Institute of Cancer Research, London, UK.
  • Benarroch L; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Aubart M; IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
  • Ghaleb Y; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Abou Khalil Y; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Varret M; Hospitalo-Universitaire Xavier Bichat, APHP, Centre de Référence Maladies Rares, Syndrome de Marfan et pathologies apparentées, Paris, France.
  • El Khoury P; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Ho-Tin-Noé B; Inserm UMRS_974, Centre de recherche en myologie, G.H. Pitié-Salpétrière, APHP, Paris, France.
  • Alembik Y; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Gaertner S; Service de Neuropédiatrie, Hôpital Necker-Enfants-Malades, APHP, Paris, France.
  • Isidor B; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Gouya L; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie-Santé, Saint Joseph University of Beirut, Beirut, Lebanon.
  • Milleron O; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Sekiguchi K; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie-Santé, Saint Joseph University of Beirut, Beirut, Lebanon.
  • Milewicz D; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • De Backer J; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Le Goff C; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie-Santé, Saint Joseph University of Beirut, Beirut, Lebanon.
  • Michel JB; Laboratory for Vascular Translational Science, INSERM U1148, Université de Paris, Centre Hospitalo-Universitaire Xavier Bichat, APHP, Paris, France.
  • Jondeau G; Department of Clinical Genetic, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Sakai LY; Department of Hypertension, Vascular Diseases and Pharmacology, University of Strasbourg, Strasbourg, France.
  • Boileau C; Service de Génétique Médicale, Hôpital Hôtel-Dieu, Centre Hospitalier Universitaire de Nantes, Nantes, France.
  • Abifadel M; Hospitalo-Universitaire Xavier Bichat, APHP, Centre de Référence Maladies Rares, Syndrome de Marfan et pathologies apparentées, Paris, France.
Genet Med ; 23(1): 111-122, 2021 01.
Article en En | MEDLINE | ID: mdl-32855533
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Aneurisma de la Aorta Torácica / Disección Aórtica Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Aneurisma de la Aorta Torácica / Disección Aórtica Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Francia