Catherine Boileau

Catherine Boileau

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Catherine Boileau

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Genetic testing for aortopathies: primer for the nongeneticist.

Curr Opin Cardiol 2019 Nov;34(6):585-593

VASCERN HTAD European Reference Centre, Centre National Maladies Rares pour le Syndrome de Marfan et apparente[Combining Acute Accent]s.

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http://dx.doi.org/10.1097/HCO.0000000000000669DOI Listing
November 2019

Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison.

Respir Res 2019 Aug 13;20(1):182. Epub 2019 Aug 13.

2nd Pulmonary Medicine Department, General University Hospital "Attikon" Medical School, National and Kapodistrian University of Athens, 1 Rimini Street, 12462 Haidari, Athens, Greece.

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http://dx.doi.org/10.1186/s12931-019-1151-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693222PMC
August 2019

Clinical Significance of Aortic Root Modification Associated With Bicuspid Aortic Valve in Marfan Syndrome.

Circ Cardiovasc Imaging 2019 Mar;12(3):e008129

Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France (O.M., F.A., C. Bouleti, G.D., M.L., M.T., C. Boileau, G.J.).

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http://dx.doi.org/10.1161/CIRCIMAGING.118.008129DOI Listing
March 2019

Reference Expression Profile of Three Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome.

Genes (Basel) 2019 02 11;10(2). Epub 2019 Feb 11.

Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France.

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http://dx.doi.org/10.3390/genes10020128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409622PMC
February 2019

MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease.

N Engl J Med 2018 12 20;379(23):2209-2219. Epub 2018 Oct 20.

From Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bichat-Claude Bernard, Departments of Rheumatology (P.-A.J., E.E., S. Ottaviani, P.D.), Genetics (C.K., C. Boileau), Pulmonology A (R.B., B.C.), Pulmonology B (G.T.), and Radiology (M.-P.D.), Département Hospitalo-Universitaire Fibrose Inflammation Remodelage, INSERM Unité Mixte de Recherche (UMR) 1152, Université Paris Diderot (P.-A.J., C.K., R.B., G.T., B.C., P.D.), Arthritis Recherche et Développement (P.-A.J.), AP-HP, Hôpital Lariboisière, Service de Rhumatologie (A. Frazier, P.R.), INSERM, UMR 1132 (P.R.), AP-HP, Hôpital Cochin, Service de Rhumatologie A, and INSERM, Unité 1016, UMR 8104 (Y.A.), AP-HP, Hôpital Tenon, Service de Pneumologie (H.L.), AP-HP, Service de Pneumologie Pédiatrique et Centre de Référence des Maladies Respiratoires Rares, and INSERM UMR S933 (N.N., S.A., A.C.), and AP-HP, Département de Génétique, Hôpital Trousseau (S.A.), Paris, Centre Hospitalier Régional Universitaire (CHRU) de Lille, Service de Pneumologie et Immuno-Allergologie, Centre de Compétence des Maladies Pulmonaires Rares, Fédératif Hospitalo-Universitaire Immune-Mediated Inflammatory Diseases and Targeted Therapies (L.W.-S., B.W.), and Centre Hospitalier Universitaire (CHU) de Lille, Service de Rhumatologie (R.-M.F.), Lille, the Departments of Pulmonology (H.N., D.V.) and Rheumatology (N.S.-K., M.-C.B.), Hôpital Avicenne, AP-HP, INSERM UMR 1125 (N.S.-K., M.-C.B.), and Université Paris 13, Sorbonne Paris Cité (N.S.-K., M.-C.B.), Bobigny, the Department of Pulmonology, CHRU Tours, Tours (S.M.-A.), CHRU de Strasbourg, Service de Rhumatologie, Hôpital de Hautepierre, INSERM UMR S1109, and Laboratoire d'Immuno-Rhumatologie Moléculaire, Centre de Recherche en Histoire des Idées, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg (J. Sibilia), Service de Pneumologie (C.D.) and Service de Rhumatologie (C.R., T.S.), CHU de Bordeaux, and ImmunoConcEpT, Centre National de la Recherche Scientifique UMR 5164 (C.R., T.S.), Bordeaux, CHU Clermont-Ferrand, Service de Rhumatologie, Institut National de la Recherche Agronomique (INRA), UMR 1019, Unité de Nutrition Humaine, Centre de Recherche en Nutrition Humaine Auvergne, Clermont-Ferrand (M.S.), and Hospices Civils de Lyon, Hôpital Louis Pradel, Centre National de Référence des Maladies Pulmonaires Rares, and INRA, UMR 754, Université Claude Bernard Lyon 1, Lyon, (V.C.) - all in France; the Departments of Medicine (J.S.L., E.D., K.D., A.D.W., A. Fischer, M.I.S., M.H., D.A.S.) and Immunology and Microbiology (D.A.S.), University of Colorado School of Medicine, Aurora, and the Departments of Biomedical Research (T.F.) and Medicine (J.J. Solomon), National Jewish Health, Denver - both in Colorado; the Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba (H.F., S. Oka, N.T.), and the Clinical Research Center for Allergy and Rheumatology, National Hospital Organization Sagamihara National Hospital, Sagamihara (H.F., S. Oka, S.T.) - both in Japan; the Department of Epidemiology, Harvard T.H. Chan School of Public Health (S.G.), and the Department of Medicine, Brigham and Women's Hospital (T.D., I.O.R.), Boston, and the Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge (S.G.) - all in Massachusetts; the Interstitial Lung Disease and Rheumatology Unit (J.R.-S., M.I.G.-P., M.M., I.B.-R.) and the HLA Laboratory (R.F.-V., E.A.-O.), Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City; the 2nd Pulmonary Medicine Department (E.M., S.A.P.) and the Rheumatology and Clinical Immunology Unit, 4th Department of Internal Medicine (T.K., D.B.), University Hospital of Athens "Attikon," National and Kapodistrian University of Athens, Athens, and the Department of Respiratory Medicine and the Laboratory of Molecular and Cellular Pneumonology, Faculty of Medicine, University of Crete, Crete (K.A.) - both in Greece; St. Antonius ILD Center of Excellence, St. Antonius Ziekenhuis, Nieuwegein, the Netherlands (C.H.M.M., J.V., Y.A.M., J.C.G.); the Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China (Y.W.); the Divisions of Pulmonary and Critical Care Medicine (J.H.R.) and Rheumatology (E.L.M.), Mayo Clinic College of Medicine and Science, Rochester, MN; the Colton Center for Autoimmunity, New York University School of Medicine, New York (T.B.N.); the Department of Medicine, McGill University, Montreal (D.A.); the Department of Medicine, University of California, San Francisco, San Francisco (A.G., P.W.); and Data Tecnica International, Glen Echo, and the Laboratory of Neurogenetics, National Institute on Aging, Bethesda - both in Maryland (C. Blauwendraat, M.A.N.).

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http://www.nejm.org/doi/10.1056/NEJMoa1801562
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http://dx.doi.org/10.1056/NEJMoa1801562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371965PMC
December 2018

Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.

J Clin Lipidol 2019 Jan - Feb;13(1):201-212. Epub 2018 Oct 24.

Service de Biochimie métabolique, Hôpitaux universitaires Pitié-Salpêtrière-Charles Foix (AP-HP), Paris, France; Faculté de Pharmacie de Paris, Université Paris Descartes, Sorbonne Paris Cité, Unité de Technologies Chimiques et Biologiques pour la Santé, U 1022 INSERM, UMR 8258 CNRS, Paris, France.

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http://dx.doi.org/10.1016/j.jacl.2018.10.003DOI Listing
October 2018

Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1.

J Clin Lipidol 2018 Nov - Dec;12(6):1374-1382. Epub 2018 Sep 1.

Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie- Santé, Saint Joseph University, Beirut, Lebanon; INSERM LVTS U1148, Hôpital Bichat-Claude Bernard, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2018.08.013DOI Listing
September 2018

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression.

Genes (Basel) 2018 Aug 21;9(9). Epub 2018 Aug 21.

Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France.

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http://dx.doi.org/10.3390/genes9090421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162465PMC
August 2018

The Canadian Partnership for Tomorrow Project: a pan-Canadian platform for research on chronic disease prevention.

CMAJ 2018 06;190(23):E710-E717

School of Population and Public Health (Dummer), University of British Columbia, Vancouver, BC; Ontario Institute for Cancer Research (Awadalla); CARTaGENE (Boileau), Montréal, Que.; Research Institute of the McGill University Health Centre (Craig, Fortier); Research and Innovation, University of Toronto (Goel); Ontario Agency for Health Protection and Promotion (Goel); Atlantic PATH, Dalhousie University (Hicks), Halifax, NS; Centre hospitalier universitaire Sainte-Justine (Jacquemont); Centre of Genomics and Policy, McGill University (Knoppers, Zawati), Montréal, Que.; BC Cancer Research Centre (Le, McDonald), Vancouver, BC; Public Health Ontario (McLaughlin), Toronto, Ont.; Institut du cancer de Montréal, Université de Montréal (Mes-Masson); Pediatrics, CHU Sainte-Justine Research Center (Nuyt), Montréal, Que.; School of Public Health, University of Adelaide (Palmer), Adelaide, Australia; Department of Medicine, Dalhousie University (Parker); Division of Cancer Epidemiology and Genetics, National Cancer Institute (Purdue), Bethesda, Md.; CancerControl Alberta, Alberta Health Services (Robson, Vena), Edmonton, Alta.; Population Oncology, BC Cancer (Spinelli), Vancouver, BC; Atlantic PATH, Dalhousie University (Thompson), Halifax, NS.

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http://dx.doi.org/10.1503/cmaj.170292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995593PMC
June 2018

Dr Niels Voigt talks with Dr Catherine Boileau, 2017 William Harvey Lecture of the European Society of Cardiology 'PCSK9: a journey of discovery from genetics to clinical trials'.

Cardiovasc Res 2017 11;113(13):e50

Inserm U1148-LVTS and AP-HP, Département de Génétique, Hôpital Bichat, Université Diderot Paris, 46 rue Henri Huchard, 75018, France.

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http://dx.doi.org/10.1093/cvr/cvx174DOI Listing
November 2017

PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies.

Curr Atheroscler Rep 2017 Oct 17;19(12):49. Epub 2017 Oct 17.

LVTS, INSERM U1148, Hôpital Xavier-Bichat, Paris Cedex 18, France.

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http://dx.doi.org/10.1007/s11883-017-0684-8DOI Listing
October 2017

Marfan Syndrome: Always Evolving.

Circ Cardiovasc Genet 2017 06;10(3)

From the CRMR Syndrome de Marfan et apparentés, Service de Cardiologie (G.J., C.B., O.M.), Laboratory for Vascular Translational Science, INSERM U1148 (G.J., C.B.), and Departement de génétique moléculaire (C.B.), Hopital Bichat, Paris, France.

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http://dx.doi.org/10.1161/CIRCGENETICS.117.001785DOI Listing
June 2017

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

J Med Genet 2017 02 31;54(2):100-103. Epub 2016 Aug 31.

Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-103996DOI Listing
February 2017

The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.

Pharmacol Rev 2017 Jan;69(1):33-52

Laboratory of Biochemical Neuroendocrinology, Institut de Recherches Cliniques de Montréal, affiliated to Université de Montréal, QC, Canada (N.G.S., A.P.); LVTS, INSERM U1148, Hôpital Xavier-Bichat, Paris, France (M.A., C.B.); Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie-Santé, Saint-Joseph University, Beirut, Lebanon (M.A.); Department of Integrative Biology, Center for Theoretical Evolutionary Genomics, University of California Berkeley, Berkeley, California (S.P.); Department of Biology, Stanford University, Stanford, California (S.P.); and Département de Génétique, AP-HP, CHU Xavier Bichat, and Université Paris Diderot, Paris, France (C.B.).

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http://dx.doi.org/10.1124/pr.116.012989DOI Listing
January 2017

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

Circ Res 2016 Mar 12;118(6):928-34. Epub 2016 Jan 12.

From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.).

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http://dx.doi.org/10.1161/CIRCRESAHA.115.307130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839295PMC
March 2016

Calcium Signaling Pathway Genes RUNX2 and CACNA1C Are Associated With Calcific Aortic Valve Disease.

Circ Cardiovasc Genet 2015 Dec 9;8(6):812-22. Epub 2015 Nov 9.

From the Centre de recherche Institut universitaire de cardiologie et de pneumologie de Québec, Quebec, Canada (S.G.-O., M.L., J.T.-M., E.L.-C., N.G., P.M., P.P., Y.B.); Departments of Molecular Medicine (A.D., Y.B.), Surgery (P.M.), and Medicine (P.P.), Laval University, Quebec, Canada; Cardiology Department, AP-HP, Bichat Hospital, Paris, France (D.M.-Z.); INSERM U698, Paris, France (D.M.-Z.); Département de Génétique, Hôpital Bichat, 75018 Paris, France (C.B.); Centre de Recherche du CHUQ, Quebec, Canada (A.D.); Montreal Heart Institute, Department of Medicine (M.-P.D., J.-C.T.), Université de Montréal, Montreal, Canada (B.J.A.); Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Boston, MA (S.C.B.); and Department of Genetics, Harvard Medical School, Boston, MA (J.G.S.).

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http://dx.doi.org/10.1161/CIRCGENETICS.115.001145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4934886PMC
December 2015

Marfan Sartan: a randomized, double-blind, placebo-controlled trial.

Eur Heart J 2015 Aug 2;36(32):2160-6. Epub 2015 May 2.

Centre National de Référence pour le syndrome de Marfan et apparentés, Hôpital Bichat, 46 rue Henry Huchard, Paris 75018, France Service de Cardiologie, AP-HP, Hôpital Bichat, Paris, France INSERM LVTS U1148, Paris 75018, France

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http://dx.doi.org/10.1093/eurheartj/ehv151DOI Listing
August 2015

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

Eur Respir J 2015 Aug 28;46(2):474-85. Epub 2015 May 28.

Université Paris Diderot, Sorbonne Paris Cité, Paris, France APHP, Hôpital Bichat, Service de Pneumologie A, DHU FIRE Centre de compétence des maladies pulmonaires rares, Paris, France.

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http://dx.doi.org/10.1183/09031936.00040115DOI Listing
August 2015

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.

Circ Cardiovasc Genet 2015 Jun 10;8(3):457-64. Epub 2015 Mar 10.

Departments of Internal Medicine (E.S.R., D.G., S.P., T.A.B., K.F., D.M.M.), Cardiothoracic and Vascular Surgery (A.E., H.S.), University of Texas Health Science Center at Houston; Department of Medicine, Stanford University Medical Center, CA (D.L.); Connective Tissue Gene Tests, Allentown, PA (J.H.); Department of Cardiac and Vascular Sciences, St. George's, University of London, London, United Kingdom (A.C., G.A.); AP-HP, Hôpital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France (C.B., G.J.), Université Paris 7, Paris, France (C.B., G.J.), AP-HP, Hôpital Bichat, Laboratoire de Génétique moléculaire, Boulogne, France (C.B.), and INSERM, U1148, Paris, France (C.B., G.J.); AP-HP, Hôpital Bichat, Service de Cardiologie, Paris, France (G.J.); Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO (A.B.); Genomic Medicine Institute, Cleveland Clinic, OH (R.M.); Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan (T.M., H.M.); Perelman School of Medicine, University of Pennsylvania, Philadelphia (R.P.); Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX (J.C., S.L.); and Texas Heart Institute and Baylor St. Luke's Medical Center, Houston (J.C., S.L.).

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http://dx.doi.org/10.1161/CIRCGENETICS.114.000943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601641PMC
June 2015

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.

Hum Mol Genet 2015 May 4;24(10):2764-70. Epub 2015 Feb 4.

National Reference Centre for Marfan Syndrome and Related Disorders, Service de Cardiologie, Centre Hospitalier Universitaire Xavier Bichat, Assistance Publique Hôpitaux de Paris, 75018 Paris, France,

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http://dx.doi.org/10.1093/hmg/ddv037DOI Listing
May 2015

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.

Am J Hum Genet 2014 Dec 26;95(6):736-43. Epub 2014 Nov 26.

INSERM U1148, Laboratory for Vascular Translational Science, Hôpital Bichat, Université Paris Diderot, Sorbonne Paris Cité, 75018 Paris, France; AP-HP, Département de Génétique, Hôpital Bichat, 75018 Paris, France; AP-HP, Centre de référence pour les syndromes de Marfan et apparentés, Service de Cardiologie, Hôpital Bichat, 75018 Paris, France; UFR de Médecine, Université Paris Diderot, 75018 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259978PMC
December 2014

Familial thoracic aortic aneurysms.

Curr Opin Cardiol 2014 Nov;29(6):492-8

aService de Cardiologie bDepartement de Genetique Moléculaire, Centre National de Référence pour le Syndrome de Marfan et apparentes, INSERM LVTS U1148, Faculté Paris Diderot, AP-HP Hopital Bichat, Paris, France.

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http://dx.doi.org/10.1097/HCO.0000000000000114DOI Listing
November 2014

Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs.

Curr Atheroscler Rep 2014 Sep;16(9):439

Laboratoire de Biochimie et Thérapies Moléculaires, Faculté de Pharmacie et Pôle Technologie - Santé, Université Saint-Joseph, Beirut, Lebanon,

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http://link.springer.com/10.1007/s11883-014-0439-8
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http://dx.doi.org/10.1007/s11883-014-0439-8DOI Listing
September 2014

Association study of CRP gene in systemic sclerosis in European Caucasian population.

Rheumatol Int 2014 Mar 9;34(3):389-92. Epub 2013 Feb 9.

Rhumatologie A, APHP, Hôpital Cochin, Université Paris Descartes, 27 Rue du faubourg St Jacques, 75014, Paris, France,

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http://dx.doi.org/10.1007/s00296-013-2673-8DOI Listing
March 2014

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition.

Genet Med 2014 Mar 5;16(3):246-50. Epub 2013 Sep 5.

1] AP-HP, Hôpital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France [2] Université Paris 7, Paris, France [3] AP-HP, Hôpital Bichat, Service de Cardiologie, Paris, France [4] INSERM, U698, Paris, France.

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http://dx.doi.org/10.1038/gim.2013.123DOI Listing
March 2014

Cohort profile of the CARTaGENE study: Quebec's population-based biobank for public health and personalized genomics.

Int J Epidemiol 2013 Oct 15;42(5):1285-99. Epub 2012 Oct 15.

Department of Pediatrics, Faculty of Medicine, Université de Montreal, Montreal, Canada, Centre de Recherche du Centre Hospitalier Universitaire (CHU) Sainte-Justine, CARTaGENE, Canada, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Canada, Department of Medicine, Faculty of Medicine, Université de Montréal, Montreal, Canada and Centre de Recherche du Centre Hospitalier Universitaire du Québec (CHUQ), Université Laval, Québec, Canada.

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http://dx.doi.org/10.1093/ije/dys160DOI Listing
October 2013

Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.

Clin Chim Acta 2012 Dec 14;414:146-51. Epub 2012 Aug 14.

Research Unit of Genetic and Biologic Factors of Atherosclerosis, Faculty of Medicine, Monastir, University of Monastir, Tunisia.

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http://dx.doi.org/10.1016/j.cca.2012.08.002DOI Listing
December 2012

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.

Atherosclerosis 2012 Aug 17;223(2):394-400. Epub 2012 May 17.

Institut National de la Santé et de la Recherche Médicale, Inserm UMR698, Hemostasis, Bio-Engineering and Cardiovascular Remodelling, Hôpital Bichat-Claude Bernard, 46 Rue Henri Huchard, 75877 Paris Cedex 18, France.

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http://dx.doi.org/10.1016/j.atherosclerosis.2012.04.006DOI Listing
August 2012

Genetics of thoracic aortic aneurysms.

Curr Atheroscler Rep 2012 Jun;14(3):219-26

AP-HP, Centre de Référence National pour le syndrome de Marfan et apparentés, Hôpital Bichat, Paris, France.

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http://dx.doi.org/10.1007/s11883-012-0241-4DOI Listing
June 2012

Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?

Am J Med Genet A 2012 May 9;158A(5):1185-9. Epub 2012 Apr 9.

Unité de Génétique Médicale et laboratoire associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://doi.wiley.com/10.1002/ajmg.a.35279
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http://dx.doi.org/10.1002/ajmg.a.35279DOI Listing
May 2012

Angiogenic biomarkers predict the occurrence of digital ulcers in systemic sclerosis.

Ann Rheum Dis 2012 Mar 15;71(3):394-9. Epub 2011 Nov 15.

Rheumatology A department, Paris Descartes University, Cochin Hospital, APHP, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1136/annrheumdis-2011-200143DOI Listing
March 2012

Surgical management of patients with Marfan syndrome: evolution throughout the years.

Arch Cardiovasc Dis 2012 Feb 22;105(2):84-90. Epub 2012 Feb 22.

Service de cardiologie, centre de référence pour les syndromes de Marfan et apparentés, hôpital Bichat, Paris, France.

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http://dx.doi.org/10.1016/j.acvd.2012.01.001DOI Listing
February 2012

Association study of B-cell marker gene polymorphisms in European Caucasian patients with systemic sclerosis.

Clin Exp Rheumatol 2011 Sep-Oct;29(5):839-42. Epub 2011 Oct 31.

Université Paris Diderot, Hôpital Bichat Claude Bernard, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.

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January 2012

Aortic event rate in the Marfan population: a cohort study.

Circulation 2012 Jan 1;125(2):226-32. Epub 2011 Dec 1.

Centre de Référence pour le Syndrome de Marfan et Apparentés, Hôpital Bichat, 75018 Paris, France.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.111.054676DOI Listing
January 2012

Insights into the pathogenesis of systemic sclerosis based on the gene expression profile of progenitor-derived endothelial cells.

Arthritis Rheum 2011 Nov;63(11):3552-62

Université Paris Descartes and Hôpital Cochin, AP-HP, and INSERM U1016, Cochin Institut, Paris, France.

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http://dx.doi.org/10.1002/art.30536DOI Listing
November 2011

The translational science of Marfan syndrome.

Heart 2011 Aug;97(15):1206-14

Centre National de Référence pour le syndrome de Marfan et apparentés, Hôpital Bichat, Paris 75018, France.

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http://dx.doi.org/10.1136/hrt.2010.212100DOI Listing
August 2011

Expanding the skeletal phenotype of Loeys-Dietz syndrome.

Am J Med Genet A 2011 May 11;155A(5):1178-83. Epub 2011 Apr 11.

Department of Medical Genetics, Université Paris Descartes, INSERM U, Hôpital Necker-Enfants Malades, France.

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http://dx.doi.org/10.1002/ajmg.a.33813DOI Listing
May 2011

A case-control study of cutaneous signs in adult patients with Marfan disease: diagnostic value of striae.

J Am Acad Dermatol 2011 Feb 26;64(2):290-5. Epub 2010 Nov 26.

Department of Dermatology, Université Versailles St-Quentin, Ambroise Paré Hospital, Boulogne, France.

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http://dx.doi.org/10.1016/j.jaad.2010.01.032DOI Listing
February 2011

In vivo evidence that furin from hepatocytes inactivates PCSK9.

J Biol Chem 2011 Feb 8;286(6):4257-63. Epub 2010 Dec 8.

Laboratory of Biochemical Neuroendocrinology, Clinical Research Institute of Montreal, Montreal, Quebec H2W 1R7, Canada.

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http://dx.doi.org/10.1074/jbc.M110.192104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039354PMC
February 2011

Dissection in Marfan syndrome: the importance of the descending aorta.

Eur Heart J 2011 Feb 8;32(4):443-9. Epub 2010 Dec 8.

Service de Cardiologie, Centre de référence pour les syndromes de Marfan et apparentés, Hôpital Bichat, AP-HP, Paris, France.

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http://dx.doi.org/10.1093/eurheartj/ehq434DOI Listing
February 2011

[Genetics and pathophysiology of systemic sclerosis].

Bull Acad Natl Med 2011 Jan;195(1):55-65; discussion 66-7

Rhumatologie A, Hôpital Cochin, Université Paris Descartes, Inserm U1016 et APHP, 27, rue du Faubourg Saint-Jacques--75679 Paris cedex 14.

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January 2011

Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents.

Expert Opin Ther Pat 2010 Nov 17;20(11):1547-71. Epub 2010 Sep 17.

Institut National de la Santé et de la Recherche Médicale, Inserm UMR698, Hemostasis, Bio-Engineering and Cardiovascular Remodelling, Hôpital Bichat-Claude Bernard, 46 Rue Henri Huchard, 75877 Paris Cedex 18, France.

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http://dx.doi.org/10.1517/13543776.2010.518615DOI Listing
November 2010