Étude génétique et moléculaire de la glycogénose de type 1A

Autor: P Labrune, Pascale Trioche, M Hadehouel, JF Deleuze

Publikováno v: Archives de Pédiatrie. 3:1288

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::826aa7d362df553fa8fc0a369f550616
https://doi.org/10.1016/s0929-693x(97)85956-8

Genome-Wide Search for Nonadditive Allele Effects Identifies PSKH2 as Involved in the Variability of Factor V Activity.

Autor: Gendre B; INSERM, Bordeaux Population Health Research Center, UMR 1219, ELEANOR, University of Bordeaux Bordeaux France., Martinez-Perez A; Unit of Genomics of Complex Diseases, Institut de Recerca Sant Pau (IR SANT PAU) Barcelona Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III Madrid Spain., Kleber ME; Department of Medicine V, Medical Faculty Mannheim University of Heidelberg Mannheim Germany.; SYNLAB Center of Human Genetics Mannheim Manheim Germany., van Hylckama Vlieg A; Department of Clinical Epidemiology Leiden University Medical Center Leiden Netherlands., Boland A; CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay Evry France.; Laboratory of Excellence GENMED (Medical Genomics) Evry France., Olaso R; CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay Evry France.; Laboratory of Excellence GENMED (Medical Genomics) Evry France., Germain M; INSERM, Bordeaux Population Health Research Center, UMR 1219, ELEANOR, University of Bordeaux Bordeaux France., Munsch G; INSERM, Bordeaux Population Health Research Center, UMR 1219, ELEANOR, University of Bordeaux Bordeaux France., Moissl AP; Department of Medicine V, Medical Faculty Mannheim University of Heidelberg Mannheim Germany., Suchon P; Cardiovascular and Nutrition Research Center (C2VN), INSERM, INRAE, Aix-Marseille University Marseille France., Souto JC; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III Madrid Spain.; Thrombosis and Haemostasis Unit Hospital de la Santa Creu i Sant Pau and Institut d'Investigació Biomèdica Sant Pau (IIB-Sant Pau) Barcelona Spain., Soria JM; Unit of Genomics of Complex Diseases, Institut de Recerca Sant Pau (IR SANT PAU) Barcelona Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III Madrid Spain., Deleuze JF; CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay Evry France.; Laboratory of Excellence GENMED (Medical Genomics) Evry France., März W; Department of Medicine V, Medical Faculty Mannheim University of Heidelberg Mannheim Germany.; Clinical Institute of Medical and Chemical Laboratory Diagnostics Medical University of Graz Graz Austria.; SYNLAB Academy, SYNLAB Holding Germany Mannheim and Augsburg Germany., Rosendaal FR; Department of Clinical Epidemiology Leiden University Medical Center Leiden Netherlands., Sabater-Lleal M; Unit of Genomics of Complex Diseases, Institut de Recerca Sant Pau (IR SANT PAU) Barcelona Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III Madrid Spain.; Cardiovascular Medicine Unit, Department of Medicine Karolinska Institutet Stockholm Sweden., Morange PE; Cardiovascular and Nutrition Research Center (C2VN), INSERM, INRAE, Aix-Marseille University Marseille France., Trégouët DA; INSERM, Bordeaux Population Health Research Center, UMR 1219, ELEANOR, University of Bordeaux Bordeaux France.

Publikováno v: Journal of the American Heart Association [J Am Heart Assoc] 2024 Nov 05; Vol. 13 (21), pp. e034943. Date of Electronic Publication: 2024 Oct 18.

A ONECUT1 regulatory, non-coding region in pancreatic development and diabetes.

Autor: Merz S; Institute of Molecular Oncology and Stem Cell Biology, Ulm University Hospital, Ulm, Germany., Senée V; Université Paris Cité, Institut Cochin, INSERM U1016, CNRS UMR 8104, Paris, France., Philippi A; Université Paris Cité, Institut Cochin, INSERM U1016, CNRS UMR 8104, Paris, France., Oswald F; Department of Internal Medicine 1, Ulm University Hospital, Ulm, Germany., Shaigan M; Institute for Computational Genomics, RWTH Aachen University Medical School, Aachen, Germany., Führer M; Institute for Clinical Transfusion Medicine and Immunogenetics, German Red Cross Blood Transfusion Service Baden-Württemberg-Hessen and University Hospital Ulm, Ulm, Germany., Drewes C; Institute of Human Genetics, Ulm University & Ulm University Medical Center, Ulm, Germany., Allgöwer C; Institute of Molecular Oncology and Stem Cell Biology, Ulm University Hospital, Ulm, Germany., Öllinger R; Institute of Molecular Oncology and Functional Genomics, Center for Translational Cancer Research and Department of Medicine II, School of Medicine, Technical University of Munich, Munich, Germany., Heni M; Division of Endocrinology and Diabetology, Department of Internal Medicine 1, Ulm University Hospital, Ulm, Germany; Institute for Clinical Chemistry and Pathobiochemistry, Department for Diagnostic Laboratory Medicine, University Hospital Tübingen, Tübingen, Germany., Boland A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Birkhofer F; Institute of Molecular Oncology and Stem Cell Biology, Ulm University Hospital, Ulm, Germany., Gusmao EG; Centre of Informatics, Federal University of Pernambuco, Recife, Brazil., Wagner M; Department of Internal Medicine 1, Ulm University Hospital, Ulm, Germany., Hohwieler M; Institute of Molecular Oncology and Stem Cell Biology, Ulm University Hospital, Ulm, Germany., Breunig M; Institute of Molecular Oncology and Stem Cell Biology, Ulm University Hospital, Ulm, Germany., Rad R; Institute of Molecular Oncology and Functional Genomics, Center for Translational Cancer Research and Department of Medicine II, School of Medicine, Technical University of Munich, Munich, Germany., Siebert R; Institute of Human Genetics, Ulm University & Ulm University Medical Center, Ulm, Germany., Messerer DAC; Institute for Clinical Transfusion Medicine and Immunogenetics, German Red Cross Blood Transfusion Service Baden-Württemberg-Hessen and University Hospital Ulm, Ulm, Germany; Institute for Transfusion Medicine, University Hospital Ulm, Ulm, Germany., Costa IG; Institute for Computational Genomics, RWTH Aachen University Medical School, Aachen, Germany., Alvarez F; Division of Gastroenterology, Hepatology & Nutrition, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada., Julier C; Université Paris Cité, Institut Cochin, INSERM U1016, CNRS UMR 8104, Paris, France. Electronic address: cecile.julier@inserm.fr., Kleger A; Institute of Molecular Oncology and Stem Cell Biology, Ulm University Hospital, Ulm, Germany; Division of Interdisciplinary Pancreatology, Department of Internal Medicine 1, Ulm University Hospital, Ulm, Germany; Core Facility Organoids, Ulm University, Ulm, Germany. Electronic address: alexander.kleger@uni-ulm.de., Heller S; Institute of Molecular Oncology and Stem Cell Biology, Ulm University Hospital, Ulm, Germany. Electronic address: sandra.heller@uni-ulm.de.

Publikováno v: Cell reports [Cell Rep] 2024 Oct 19; Vol. 43 (11), pp. 114853. Date of Electronic Publication: 2024 Oct 19.

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

Autor: Muret K; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France., Le Goff V; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France., Dandine-Roulland C; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France., Hotz C; Public Health Department, Henri-Mondor Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), 94000 Créteil, France.; Transversal Dermatology Unit, Jacques Puel Hospital Center, 12000 Rodez, France., Jean-Louis F; Team 16, Vaccine Research Institute (VRI), INSERM U955, Institut Mondor de Recherche Biomédicale (IMRB), Henri-Mondor Hospital, UPEC, 94000 Créteil, France., Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA., Mesrob L; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France.; INSERM U1266, Institute of Psychiatry and Neuroscience of Paris (IPNP), Paris Cité University, 75014 Paris, France., Sandron F; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France., Daian D; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France., Olaso R; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France., Le Floch E; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France., Meyer V; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France., Wolkenstein P; Public Health Department, Henri-Mondor Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), 94000 Créteil, France., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Imagine Institute, Paris Cité University, 75015 Paris, France.; Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), 75015 Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Howard Hughes Medical Institute, New York, NY 10032, USA., Lévy Y; Public Health Department, Henri-Mondor Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), 94000 Créteil, France., Bonnet E; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France.; Centre d'Etude du Polymorphisme Humain (CEPH), Fondation Jean Dausset, 75010 Paris, France.; Centre de Référence, d'Innovation, d'Expertise et de Transfert (CREFIX), 91000 Evry, France., Hüe S; Team 16, Vaccine Research Institute (VRI), INSERM U955, Institut Mondor de Recherche Biomédicale (IMRB), Henri-Mondor Hospital, UPEC, 94000 Créteil, France.; Biologic Immunology-Hematology Department, DMU Biologie, Henri-Mondor Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), 94000 Créteil, France.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Sep 26; Vol. 25 (19). Date of Electronic Publication: 2024 Sep 26.

Long-term behavioral symptom clusters among survivors of early-stage breast cancer. development and validation of a predictive model.

Autor: Pagliuca M; Cancer Survivorship Research Group, INSERM U981, Gustave Roussy, Villejuif, France.; Departement of Breast and Thoracic Oncology, Division of Breast Medical Oncology, Istituto Nazionale Tumori IRCCS 'Fondazione G. Pascale', Napoli, Italia., Havas J; Cancer Survivorship Research Group, INSERM U981, Gustave Roussy, Villejuif, France., Thomas E; Labex DEV2CAN, Institut Convergence Plascan, Centre Léon Bérard, Gilles Thomas Bioinformatics Platform, UMR INSERM 1052, CNRS 5286, Université Claude Bernard, Lyon 1, Lyon, France., Drouet Y; Labex DEV2CAN, Institut Convergence Plascan, Centre Léon Bérard, Gilles Thomas Bioinformatics Platform, UMR INSERM 1052, CNRS 5286, Université Claude Bernard, Lyon 1, Lyon, France., Soldato D; Cancer Survivorship Research Group, INSERM U981, Gustave Roussy, Villejuif, France., Franzoi MA; Cancer Survivorship Research Group, INSERM U981, Gustave Roussy, Villejuif, France., Ribeiro J; Cancer Survivorship Research Group, INSERM U981, Gustave Roussy, Villejuif, France., Chiodi CK; Cancer Survivorship Research Group, INSERM U981, Gustave Roussy, Villejuif, France., Gillanders E; Cancer Survivorship Research Group, INSERM U981, Gustave Roussy, Villejuif, France., Pistilli B; Medical Oncology Department, INSERM U981, Gustave Roussy, Villejuif, France., Menvielle G; Cancer Survivorship Research Group, INSERM U981, Gustave Roussy, Villejuif, France., Joly F; Clinical Research Depatment, Inserm U1086 Anticipe, Centre Francois Baclesse, University UniCaen, Caen, France., Lerebours F; Medical Oncology Department, Institut Curie Saint Cloud, Saint Cloud, France., Rigal O; Medical Oncology Department, Centre Henri Becquerel, Rouen, France., Petit T; Medical Oncology Department, Institute of Cancer Strasbourg (ICANS), Strasbourg, France., Giacchetti S; Department of Breast Disease, APHP, University Hospital Saint Louis, Senopole, Paris, France., Dalenc F; Medical Oncology Department, Oncopole Claudius Regaud, Institut Universitaire du Cancer, Toulouse, France., Wassermann J; Medical Oncology Department, Pitié Salpêtrière University Hospital, Cancer University Institute, AP-HP, Paris, France., Arsene O; Medical Oncology Department, Centre Hospitalier de Blois, Blois, France., Martin AL; Direction des Data et des Partenariats, UNICANCER, Paris, France., Everhard S; Direction des Data et des Partenariats, UNICANCER, Paris, France., Tredan O; Labex DEV2CAN, Institut Convergence Plascan, Centre Léon Bérard, Gilles Thomas Bioinformatics Platform, UMR INSERM 1052, CNRS 5286, Université Claude Bernard, Lyon 1, Lyon, France., Boyault S; Labex DEV2CAN, Institut Convergence Plascan, Centre Léon Bérard, Gilles Thomas Bioinformatics Platform, UMR INSERM 1052, CNRS 5286, Université Claude Bernard, Lyon 1, Lyon, France., De Laurentiis M; Departement of Breast and Thoracic Oncology, Division of Breast Medical Oncology, Istituto Nazionale Tumori IRCCS 'Fondazione G. Pascale', Napoli, Italia., Viari A; Labex DEV2CAN, Institut Convergence Plascan, Centre Léon Bérard, Gilles Thomas Bioinformatics Platform, UMR INSERM 1052, CNRS 5286, Université Claude Bernard, Lyon 1, Lyon, France., Deleuze JF; Centre National de Recherche en Génomique Humaine CNRGH-CEA, Laboratory of Excellence in Medical Genomics, GENMED, Évry-Courcouronnes, France., Bertaut A; Unit of Methodology and Biostatistics, George-François Leclerc Cancer Center, Dijon, France., André F; Cancer Survivorship Research Group, INSERM U981, Gustave Roussy, Villejuif, France., Vaz-Luis I; Cancer Survivorship Research Group, INSERM U981, Gustave Roussy, Villejuif, France.; Department for the Organization of Patient Pathways (DIOPP), Gustave Roussy, Villejuif, France., Di Meglio A; Cancer Survivorship Research Group, INSERM U981, Gustave Roussy, Villejuif, France.

Publikováno v: Journal of the National Cancer Institute [J Natl Cancer Inst] 2024 Sep 09. Date of Electronic Publication: 2024 Sep 09.