Zobrazeno 1 - 10
of 17 969
pro vyhledávání: '"penetrance"'
Autor:
Billes A; CHU Amiens Picardie, Service de Génétique Clinique, Amiens, France.; CHU Amiens Picardie, Laboratoire de Génétique Constitutionnelle, Amiens, France., Pujalte M; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France., Jedraszak G; CHU Amiens Picardie, Laboratoire de Génétique Constitutionnelle, Amiens, France.; CHU Amiens Picardie, Département de génétique, UR4666 HEMATIM, CURS, Université Picardie Jules Verne, Amiens, France., Amsallem D; Service de Neuropédiatrie, CHU de Besançon, Besançon, France., Boudry-Labis E; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, Centre Hospitalier Universitaire de Lille, Lille, France., Boute O; Génétique Clinique, Centre Hospitalier Universitaire de Lille, Hôpital Jeanne de Flandre, Lille, France., Bouquillon S; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, Centre Hospitalier Universitaire de Lille, Lille, France., Brischoux-Boucher E; Centre de Génétique Humaine - CHU de Besançon, Université de Bourgogne-Franche-Comté, Besançon, France., Callier P; Inserm UMR 1231 GAD Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle Innovation diagnostique dans les maladies rares, laboratoire de génétique chromosomique et moléculaire, Plateau Technique de Biologie, CHU Dijon Bourgogne, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France., Coutton C; Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, La Tronche, France.; INSERM 1209, CNRS UMR 5309, Institut pour l'Avancée des Biosciences (IAB), Université Grenoble Alpes, Grenoble, France., Denizet AA; Centre de Génétique Humaine - CHU de Besançon, Université de Bourgogne-Franche-Comté, Besançon, France., Dieterich K; Université Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Medical Genetics, Grenoble Institute of Neurosciences, Grenoble, France.; CHU Grenoble, UM Génétique Chromosomique, Grenoble, France., Kuentz P; Oncobiologie Génétique Bioinformatique, PCBio, CHU de Besançon, Besançon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France., Lespinasse J; Centre Hospitalier de Chambéry, Service de Cytogénétique, Chambéry, France., Mazel B; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU Dijon Bourgogne, Dijon, France., Morin G; CHU Amiens Picardie, Service de Génétique Clinique, Amiens, France., Amram F; CHU Amiens Picardie, Service de Génétique Clinique, Amiens, France., Pennamen P; CHU Bordeaux, Laboratoire de Génétique Biologique, Bordeaux, France., Rio M; Université Paris Cité, Institut Imagine, Inserm U1163, Paris, France.; Service de Médecine Génomique des maladies rares, AP-HP, Centre Hôpital Necker-Enfants Malades, Paris, France., Piard J; Centre de Génétique Humaine - CHU de Besançon, Université de Bourgogne-Franche-Comté, Besançon, France.; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France., Putoux A; Hospices Civils de Lyon, Service de Génétique, Groupement Hospitalier Est, Bron, France.; Equipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., Rama M; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, Centre Hospitalier Universitaire de Lille, Lille, France., Roze-Guillaumey V; Oncobiologie Génétique Bioinformatique, PCBio, CHU de Besançon, Besançon, France., Schluth-Bolard C; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261-INSERM U1315, Université de Lyon - Université Claude Bernard Lyon 1, Lyon, France.; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Till M; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France., Trouvé C; Centre de Génétique Humaine - CHU de Besançon, Université de Bourgogne-Franche-Comté, Besançon, France., Vieville G; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble-Alpes, Grenoble, France., Rooryck C; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France., Sanlaville D; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261-INSERM U1315, Université de Lyon - Université Claude Bernard Lyon 1, Lyon, France., Chatron N; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261-INSERM U1315, Université de Lyon - Université Claude Bernard Lyon 1, Lyon, France.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Sep; Vol. 106 (3), pp. 234-246. Date of Electronic Publication: 2024 Apr 01.
Autor:
Serpa F; Division of Cardiology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA., Finn CM; Division of Cardiology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA., Tahir UA; Division of Cardiology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA. utahir@bidmc.harvard.edu.
Publikováno v:
Heart failure reviews [Heart Fail Rev] 2024 Sep; Vol. 29 (5), pp. 873-881. Date of Electronic Publication: 2024 Jun 19.
Autor:
Roos AK; Department of Clinical Sciences, Neurosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 4, Umeå SE-90184, Sweden., Stenvall E; Department of Medical Biosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 2, Umeå SE-90184, Sweden., Kockum ES; Department of Medical Biosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 2, Umeå SE-90184, Sweden., Grönlund KÅ; Department of Clinical Sciences, Neurosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 4, Umeå SE-90184, Sweden., Alstermark H; Department of Clinical Sciences, Neurosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 4, Umeå SE-90184, Sweden., Wuolikainen A; Department of Medical Sciences, Neurology, Uppsala University, Uppsala University Hospital, Entrance 85, Floor 2, Uppsala SE-75185, Sweden., Andersen PM; Department of Clinical Sciences, Neurosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 4, Umeå SE-90184, Sweden., Nordin A; Department of Medical Biosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 2, Umeå SE-90184, Sweden., Forsberg KME; Department of Clinical Sciences, Neurosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 4, Umeå SE-90184, Sweden.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2024 Nov 08; Vol. 33 (22), pp. 1966-1974.
Autor:
Figueiral M; The Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Paldino A; The Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina(ASUGI), University of Trieste, Trieste, Italy., Wilke MVMB; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Farris JD; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Verheijen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Giudicessi JR; The Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Ackerman MJ; The Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Olson JE; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Arroyo J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Olson RJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Pereira NL; The Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN. Electronic address: pereira.naveen@mayo.edu.
Publikováno v:
Mayo Clinic proceedings [Mayo Clin Proc] 2024 Nov; Vol. 99 (11), pp. 1732-1743. Date of Electronic Publication: 2024 Oct 10.
Autor:
Dawson J; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada., Kay C; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada., Black HF; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada., Bortnick S; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada., Javier K; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada., Xia Q; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada., Sandhu A; Research Informatics, BC Children's Hospital Research Institute, Vancouver, Canada., Buchanan C; Auckland City Hospital, Health New Zealand, Auckland, New Zealand., Hogg V; Auckland City Hospital, Health New Zealand, Auckland, New Zealand., Chang FCF; Huntington Disease Unit, Department of Neurology, Westmead Hospital, Westmead, New South Wales, Australia; Sydney Medical School, Westmead Campus, University of Sydney, Sydney, Australia., Goto J; Department of Neurology, International University of Health and Welfare, Ichikawa Hospital, Chiba, Japan., Arning L; Department of Human Genetics, Medical Faculty, Ruhr University of Bochum, Bochum, Germany., Saft C; Department of Neurology, Huntington Center North Rhine-Westphalia, St. Josef-Hospital Bochum, Ruhr University Bochum, Bochum, Germany., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Nguyen HP; Department of Human Genetics, Medical Faculty, Ruhr University of Bochum, Bochum, Germany., Roxburgh R; Auckland City Hospital, Health New Zealand, Auckland, New Zealand; Department of Medicine and Centre for Brain Research, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand., Hayden MR; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada. Electronic address: mrh@cmmt.ubc.ca.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Nov; Vol. 26 (11), pp. 101239. Date of Electronic Publication: 2024 Aug 10.
Autor:
Ntowe KW; Department of Surgery, Duke University Medical Center, Durham, NC, USA., Thomas SM; Duke Cancer Institute, Duke University, Durham, NC, USA.; Biostatistics and Bioinformatics, Duke University, Durham, NC, USA., Dalton JC; Department of Surgery, Duke University Medical Center, Durham, NC, USA., Olunuga E; Department of Surgery, Duke University Medical Center, Durham, NC, USA., Wang T; Department of Surgery, Duke University Medical Center, Durham, NC, USA.; Duke Cancer Institute, Duke University, Durham, NC, USA., Chiba A; Department of Surgery, Duke University Medical Center, Durham, NC, USA.; Duke Cancer Institute, Duke University, Durham, NC, USA., Plichta JK; Department of Surgery, Duke University Medical Center, Durham, NC, USA. jennifer.plichta@duke.edu.; Duke Cancer Institute, Duke University, Durham, NC, USA. jennifer.plichta@duke.edu.; Department of Population Health Sciences, Duke University Medical Center, Durham, NC, USA. jennifer.plichta@duke.edu.
Publikováno v:
Annals of surgical oncology [Ann Surg Oncol] 2024 Oct; Vol. 31 (11), pp. 7290-7300. Date of Electronic Publication: 2024 Jul 08.
Autor:
Duijvesteijn N; Cooperative Research Centre for Sheep Industry Innovation, Armidale, NSW, 2351, Australia.; School of Environmental and Rural Science, University of New England, Armidale, NSW, 2351, Australia.; Hendrix Genetics Research, Technology & Services B.V., P.O. Box 114, 5830 AC, Boxmeer, The Netherlands., van der Werf JHJ; Cooperative Research Centre for Sheep Industry Innovation, Armidale, NSW, 2351, Australia. jvanderw@une.edu.au.; School of Environmental and Rural Science, University of New England, Armidale, NSW, 2351, Australia. jvanderw@une.edu.au., Kinghorn BP; School of Environmental and Rural Science, University of New England, Armidale, NSW, 2351, Australia.
Publikováno v:
Genetics, selection, evolution : GSE [Genet Sel Evol] 2024 Sep 03; Vol. 56 (1), pp. 61. Date of Electronic Publication: 2024 Sep 03.
Autor:
Wright CF; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK. caroline.wright@exeter.ac.uk., Sharp LN; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK., Jackson L; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK., Murray A; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK., Ware JS; National Heart and Lung Institute and MRC Laboratory of Medical Sciences, Imperial College London, London, UK.; Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK.; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Patel KA; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK., Weedon MN; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, Exeter, UK. m.n.weedon@exeter.ac.uk.
Publikováno v:
Nature genetics [Nat Genet] 2024 Sep; Vol. 56 (9), pp. 1772-1779. Date of Electronic Publication: 2024 Jul 29.
Autor:
Xu J; Key Laboratory of Environmental Stress and Chronic Disease Control & Prevention, Ministry of Education (China Medical University), Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, China., Zou Z; Department of Neurosurgery, the Fifth Medical Centre, Chinese PLA General Hospital, Beijing, China., Liu W; Key Laboratory of Environmental Stress and Chronic Disease Control & Prevention, Ministry of Education (China Medical University), Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, China., Zhang Q; Department of Neurosurgery, the Fifth Medical Centre, Chinese PLA General Hospital, Beijing, China., Shen J; Key Laboratory of Environmental Stress and Chronic Disease Control & Prevention, Ministry of Education (China Medical University), Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, China., Hao F; Department of Neurosurgery, the Fifth Medical Centre, Chinese PLA General Hospital, Beijing, China., Chen G; Key Laboratory of Environmental Stress and Chronic Disease Control & Prevention, Ministry of Education (China Medical University), Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, China., Yu D; Department of Neurosurgery, the Fifth Medical Centre, Chinese PLA General Hospital, Beijing, China., Li Y; Key Laboratory of Environmental Stress and Chronic Disease Control & Prevention, Ministry of Education (China Medical University), Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, China., Zhang Z; Department of Neurosurgery, the Fifth Medical Centre, Chinese PLA General Hospital, Beijing, China., Qin Y; Key Laboratory of Environmental Stress and Chronic Disease Control & Prevention, Ministry of Education (China Medical University), Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, China., Yang R; Department of Neurosurgery, the Fifth Medical Centre, Chinese PLA General Hospital, Beijing, China., Wang Y; Key Laboratory of Environmental Stress and Chronic Disease Control & Prevention, Ministry of Education (China Medical University), Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, China., Duan L; Department of Neurosurgery, the Fifth Medical Centre, Chinese PLA General Hospital, Beijing, China.
Publikováno v:
European journal of neurology [Eur J Neurol] 2024 Dec; Vol. 31 (12), pp. e16473. Date of Electronic Publication: 2024 Sep 24.
Autor:
Innella G; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.; Medical Genetics Unit, Bologna, Italy., Fortuno C; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Caleca L; Unit of Predictive Medicine: Molecular Bases of Genetic Risk, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy., Feng BJ; University of Utah, Salt Lake City, Utah, USA., Carroll C; University of Utah, Salt Lake City, Utah, USA., Parsons MT; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Miccoli S; Medical Genetics Unit, Bologna, Italy., Montagna M; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy., Calistri D; Biosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) 'Dino Amadori', Meldola, Italy., Cortesi L; Division of Medical Oncology, Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy., Pasini B; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, Italy., Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy., Giachino D; Medical Genetic Unit, San Luigi Gonzaga University Hospital, Torino, Italy.; Department of Clinical and Biological Sciences, University of Turin, Torino, Italy., Matricardi L; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy., Foti MC; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy., Zampiga V; Biosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) 'Dino Amadori', Meldola, Italy., Piombino C; Division of Medical Oncology, Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy., Barbieri E; Division of Medical Oncology, Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy., Lutati FV; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, Italy., Azzolini J; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy., Danesi R; Romagna Cancer Registry, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) 'Dino Amadori', Meldola, Italy., Arcangeli V; Romagna Cancer Registry, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) 'Dino Amadori', Meldola, Italy., Caputo SM; Department of Genetics, Institut Curie, Paris, France and Paris Sciences Lettres Research University, Paris, France., Boutry-Kryza N; Service de génétique, Hospices Civils de Lyon, Bron, France., Goussot V; Département de Biologie et Pathologie des Tumeurs, Centre de Lutte Contre le Cancer Georges François Leclerc, Dijon, France., Hiraki S; GeneDx, Gaithersburg, Maryland, USA., Richardson M; Ambry Genetics, Aliso Viejo, California, USA., Ferrari S; Medical Genetics Unit, Bologna, Italy., Radice P; Unit of Predictive Medicine: Molecular Bases of Genetic Risk, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy., Spurdle AB; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Turchetti D; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.; Medical Genetics Unit, Bologna, Italy.
Publikováno v:
Cancer medicine [Cancer Med] 2024 Aug; Vol. 13 (16), pp. e70114.