Zobrazeno 1 - 10 of 95 pro vyhledávání: '"Pegeot, H."'
1
Akademický článek
Quantification of the spread of SARS-CoV-2 variant B.1.1.7 in Switzerland.
Autor: Chen C; Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland; Swiss Institute of Bioinformatics, Switzerland., Nadeau SA; Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland; Swiss Institute of Bioinformatics, Switzerland., Topolsky I; Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland; Swiss Institute of Bioinformatics, Switzerland., Manceau M; Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland; Swiss Institute of Bioinformatics, Switzerland., Huisman JS; Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland; Swiss Institute of Bioinformatics, Switzerland; Department of Environmental Systems Science, ETH Zürich, Swiss Federal Institute of Technology, Zurich, Switzerland., Jablonski KP; Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland; Swiss Institute of Bioinformatics, Switzerland., Fuhrmann L; Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland; Swiss Institute of Bioinformatics, Switzerland., Dreifuss D; Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland; Swiss Institute of Bioinformatics, Switzerland., Jahn K; Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland; Swiss Institute of Bioinformatics, Switzerland., Beckmann C; Viollier AG, Allschwil, Switzerland., Redondo M; Viollier AG, Allschwil, Switzerland., Noppen C; Viollier AG, Allschwil, Switzerland., Risch L; Dr Risch, Labormedizinisches Zentrum, Switzerland., Risch M; Dr Risch, Labormedizinisches Zentrum, Switzerland., Wohlwend N; Dr Risch, Labormedizinisches Zentrum, Switzerland., Kas S; Dr Risch, Labormedizinisches Zentrum, Switzerland., Bodmer T; Dr Risch, Labormedizinisches Zentrum, Switzerland., Roloff T; Swiss Institute of Bioinformatics, Switzerland; Clinical Bacteriology and Mycology, University Hospital Basel, Basel, Switzerland; Applied Microbiology Research, Department of Biomedicine, University of Basel, Basel, Switzerland., Stange M; Swiss Institute of Bioinformatics, Switzerland; Clinical Bacteriology and Mycology, University Hospital Basel, Basel, Switzerland; Applied Microbiology Research, Department of Biomedicine, University of Basel, Basel, Switzerland., Egli A; Clinical Bacteriology and Mycology, University Hospital Basel, Basel, Switzerland; Applied Microbiology Research, Department of Biomedicine, University of Basel, Basel, Switzerland., Eckerle I; Geneva Center for Emerging Viral Diseases and Laboratory of Virology, Geneva University Hospitals, Geneva, Switzerland; Department of Microbiology and Molecular Medicine, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Kaiser L; Geneva Center for Emerging Viral Diseases and Laboratory of Virology, Geneva University Hospitals, Geneva, Switzerland; Division of Infectious Diseases, Geneva University Hospitals, Geneva, Switzerland; Department of Medicine, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Denes R; Genomic Facility Basel, Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland., Feldkamp M; Genomic Facility Basel, Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland., Nissen I; Genomic Facility Basel, Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland., Santacroce N; Genomic Facility Basel, Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland., Burcklen E; Genomic Facility Basel, Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland., Aquino C; Functional Genomics Center Zurich, ETH Zürich and University of Zurich, Zurich, Switzerland., de Gouvea AC; Functional Genomics Center Zurich, ETH Zürich and University of Zurich, Zurich, Switzerland., Moccia MD; Functional Genomics Center Zurich, ETH Zürich and University of Zurich, Zurich, Switzerland., Grüter S; Functional Genomics Center Zurich, ETH Zürich and University of Zurich, Zurich, Switzerland., Sykes T; Functional Genomics Center Zurich, ETH Zürich and University of Zurich, Zurich, Switzerland., Opitz L; Functional Genomics Center Zurich, ETH Zürich and University of Zurich, Zurich, Switzerland., White G; Functional Genomics Center Zurich, ETH Zürich and University of Zurich, Zurich, Switzerland., Neff L; Functional Genomics Center Zurich, ETH Zürich and University of Zurich, Zurich, Switzerland., Popovic D; Functional Genomics Center Zurich, ETH Zürich and University of Zurich, Zurich, Switzerland., Patrignani A; Functional Genomics Center Zurich, ETH Zürich and University of Zurich, Zurich, Switzerland., Tracy J; Functional Genomics Center Zurich, ETH Zürich and University of Zurich, Zurich, Switzerland., Schlapbach R; Functional Genomics Center Zurich, ETH Zürich and University of Zurich, Zurich, Switzerland., Dermitzakis ET; Health 2030 Genome Center, Geneva, Switzerland; University of Geneva Medical School, Geneva, Switzerland., Harshman K; Health 2030 Genome Center, Geneva, Switzerland; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland; Department of Environmental Microbiology, Eawag, Dubendorf, Switzerland., Xenarios I; Health 2030 Genome Center, Geneva, Switzerland; University of Geneva Medical School, Geneva, Switzerland., Pegeot H; Health 2030 Genome Center, Geneva, Switzerland., Cerutti L; Health 2030 Genome Center, Geneva, Switzerland., Penet D; Health 2030 Genome Center, Geneva, Switzerland., Blin A; Health 2030 Genome Center, Geneva, Switzerland., Elies M; Health 2030 Genome Center, Geneva, Switzerland., Althaus CL; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland., Beisel C; Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland., Beerenwinkel N; Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland; Swiss Institute of Bioinformatics, Switzerland., Ackermann M; Department of Environmental Systems Science, ETH Zürich, Swiss Federal Institute of Technology, Zurich, Switzerland; Department of Environmental Microbiology, Eawag, Dubendorf, Switzerland., Stadler T; Department of Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland; Swiss Institute of Bioinformatics, Switzerland. Electronic address: tanja.stadler@bsse.ethz.ch.
Publikováno v: Epidemics [Epidemics] 2021 Dec; Vol. 37, pp. 100480. Date of Electronic Publication: 2021 Aug 09.
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2
Akademický článek
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
Autor: Géraud J; Neuropediatric Department, University Hospital Centre Toulouse, Toulouse, France., Dieterich K; INSERM U1216, Grenoble Alpes University Hospital, Grenoble, France.; INSERM U1037, Cancer Research Center of Toulouse (CRCT), Department of Pathology, Toulouse University Hospital, Toulouse, France., Rendu J; INSERM U1216, Grenoble Alpes University Hospital, Grenoble, France.; INSERM U1216, University of Grenoble Alpes, Grenoble, France., Uro Coste E; INSERM U1037, Cancer Research Center of Toulouse (CRCT), Department of Pathology, Toulouse University Hospital, Toulouse, France., Dobrzynski M; Maternity Department, Brest University Hospital Center, Brest, France., Marcorelle P; Pathology Department, Brest University Hospital, Morvan Hospital, Brest, France., Ioos C; Neuropediatric Department, Garches University Hospital Center, Garches, France., Romero NB; UMRS974, CNRS FRE3617, Center for Research in Myology, INSERM, CNRS, Sorbonne University, UPMC University of Paris 06, Paris, France.; Myology Institute, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris, France., Baudou E; Neuropediatric Department, University Hospital Centre Toulouse, Toulouse, France., Brocard J; INSERM U1216, Grenoble Alpes University Hospital, Grenoble, France.; INSERM U1216, University of Grenoble Alpes, Grenoble, France., Coville AC; Neuropediatric Department, University Hospital Centre Toulouse, Toulouse, France., Fauré J; INSERM U1216, Grenoble Alpes University Hospital, Grenoble, France.; INSERM U1216, University of Grenoble Alpes, Grenoble, France., Koenig M; Molecular Genetics Laboratory, LGMR, Montpellier University Hospital Centre, University of Montpellier, Montpellier, France., Juntas Morales R; Molecular Genetics Laboratory, LGMR, Montpellier University Hospital Centre, University of Montpellier, Montpellier, France., Lacène E; UMRS974, CNRS FRE3617, Center for Research in Myology, INSERM, CNRS, Sorbonne University, UPMC University of Paris 06, Paris, France.; Myology Institute, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris, France., Madelaine A; UMRS974, CNRS FRE3617, Center for Research in Myology, INSERM, CNRS, Sorbonne University, UPMC University of Paris 06, Paris, France.; Myology Institute, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris, France., Marty I; INSERM U1216, Grenoble Alpes University Hospital, Grenoble, France.; INSERM U1216, University of Grenoble Alpes, Grenoble, France., Pegeot H; Molecular Genetics Laboratory, LGMR, Montpellier University Hospital Centre, University of Montpellier, Montpellier, France., Theze C; Molecular Genetics Laboratory, LGMR, Montpellier University Hospital Centre, University of Montpellier, Montpellier, France., Siegfried A; INSERM U1216, University of Grenoble Alpes, Grenoble, France., Cossee M; Molecular Genetics Laboratory, LGMR, Montpellier University Hospital Centre, University of Montpellier, Montpellier, France., Cances C; Neuropediatric Department, University Hospital Centre Toulouse, Toulouse, France cances.c@chu-toulouse.fr.
Publikováno v: Journal of medical genetics [J Med Genet] 2021 Sep; Vol. 58 (9), pp. 602-608. Date of Electronic Publication: 2020 Sep 29.
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3
Akademický článek
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4
Akademický článek
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5
Akademický článek
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Autor: Juntas Morales R; Explorations Neurologiques et Centre SLA, Centre de Référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbe), Centre Hospitalier Universitaire de Montpellier, 34295 Montpellier, France.; Équipe Accueil EA7402, Institut Universitaire de Recherche Clinique (IURC), Université de Montpellier, 34093 Montpellier, France., Perrin A; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, Université de Montpellier, INSERM, CNRS, 34093 Montpellier, France., Solé G; Service de Neurologie, Centre Hospitalier Universitaire de Bordeaux, Centre de référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbe), 33000 Bordeaux, France., Lacourt D; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France., Pegeot H; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France., Walther-Louvier U; Service de Neuropédiatrie, Centre Hospitalier Universitaire de Montpellier, Centre de référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbe), 34295 Montpellier, France., Cintas P; Service de Neurologie, Centre Hospitalier Universitaire de Toulouse, Centre de référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbe), 31059 Toulouse, France., Cances C; Service de Neuropédiatrie, Centre Hospitalier Universitaire de Toulouse, Centre de référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbe), 31059 Toulouse, France., Espil C; Service de Neuropédiatrie, Centre Hospitalier de Bordeaux, Centre de référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbe), 33000 Bordeaux, France., Theze C; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France., Zenagui R; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France., Yauy K; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France., Cosset E; Équipe Accueil EA7402, Institut Universitaire de Recherche Clinique (IURC), Université de Montpellier, 34093 Montpellier, France., Renard D; Service de Neurologie, Centre Hospitalier Universitaire de Nîmes, Centre de référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbe), 30029 Nîmes, France., Rigau V; Service de Pathologie, Centre Hospitalier Universitaire de Montpellier, Centre de Référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbe), 34295 Montpellier, France., Maues de Paula A; Service de Pathologie, Centre Hospitalier Universitaire de Marseille, Centre de Référence des Maladies Neuromusculaires PACA-Réunion-Rhône Alpes, 13005 Marseille, France., Uro-Coste E; Service de Pathologie, Centre Hospitalier Universitaire de Toulouse, Centre de Référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbe), 31300 Toulouse, France., Arne-Bes MC; Service de Neurologie, Centre Hospitalier Universitaire de Toulouse, Centre de référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbe), 31059 Toulouse, France., Martin Négrier ML; CHU de Bordeaux, Institut des Maladies Neurodégénératives, Université de Bordeaux, UMR 5293, 33076 Bordeaux, France., Leboucq N; Service de Neuroradiologie, Centre Hospitalier de Montpellier, Centre de Référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbe), 34295 Montpellier, France., Acket B; Service de Neurologie, Centre Hospitalier Universitaire de Toulouse, Centre de référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbe), 31059 Toulouse, France., Malfatti E; Service Neurologie Médicale, Centre de Référence Maladies Neuromusculaires Nord-Est-Ile-de-France, CHU Raymond-Poincaré, 92380 Garches, France.; U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie Appliquées, UFR des Sciences de la Santé Simone Veil, Université Versailles-Saint-Quentin-en-Yvelines, 78180 Versailles, France., Biancalana V; Laboratoire de Diagnostic Génétique, Université de Strasbourg, 67084 Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France., Metay C; Unité Fonctionnelle de Cardiogénétique et Myogénétique, Centre de Génétique, Hôpitaux Universitaire Pitié Salpêtrière-Charles Foix, 75651 Paris, France., Richard P; Unité Fonctionnelle de Cardiogénétique et Myogénétique, Centre de Génétique, Hôpitaux Universitaire Pitié Salpêtrière-Charles Foix, 75651 Paris, France., Rendu J; CHU Grenoble, Université de Grenoble Alpes, Inserm, U1216, GIN, 38706 Saint-Martin-d'Hères, France.; Unité Médicale de Génétique Moléculaire, Centre Hospitalier, Universitaire Grenoble Alpes, 38043 Saint-Martin-d'Hères, France., Rivier F; Service de Neuropédiatrie, Centre Hospitalier Universitaire de Montpellier, Centre de référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbe), 34295 Montpellier, France., Koenig M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, Université de Montpellier, INSERM, CNRS, 34093 Montpellier, France., Cossée M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, Université de Montpellier, INSERM, CNRS, 34093 Montpellier, France.
Publikováno v: Genes [Genes (Basel)] 2021 Jul 31; Vol. 12 (8). Date of Electronic Publication: 2021 Jul 31.
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6
Akademický článek
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7
Akademický článek
Single-Base Substitution Causing Dual-Exon Skipping Event in PKD2 Gene: Unusual Molecular Finding from Exome Sequencing in a Patient with Autosomal Dominant Polycystic Kidney Disease.
Autor: De Paolis, Elisa1,2 (AUTHOR) andrea.urbani@policlinicogemelli.it, Raspaglio, Giuseppina1,3 (AUTHOR) giuseppina.raspaglio@unicatt.it, Ciferri, Nunzia4 (AUTHOR) nunzia.ciferri01@icatt.it, Zangrilli, Ilaria1 (AUTHOR) ilaria.zangrilli@policlinicogemelli.it, Ricciardi Tenore, Claudio1 (AUTHOR) claudio.ricciarditenore@guest.policlinicogemelli.it, Urbani, Andrea2,5 (AUTHOR), Ferraro, Pietro Manuel6 (AUTHOR) pietromanuel.ferraro@univr.it, Minucci, Angelo1 (AUTHOR) angelo.minucci@policlinicogemelli.it, Concolino, Paola1,2 (AUTHOR) paola.concolino@policlinicogemelli.it
Publikováno v: Journal of Clinical Medicine. Aug2024, Vol. 13 Issue 16, p4682. 11p.
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8
Akademický článek
P.180 - Adult onset distal myopathy secondary to nebulin gene mutations
Autor: Juntas Morales, R., Lacourt, D., Theze, C., Pegeot, H., Perrin, A., Yauy, K., Maues de Paula, A., Figarella, D., Leboucq, N., Cossêe, M.
Publikováno v: In Neuromuscular Disorders October 2017 27 Supplement 2:S151-S151
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9
Akademický článek
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10
Akademický článek
MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis.
Autor: Yauy K; Laboratoire de Génétique Moléculaire, CHU Montpellier, Montpellier, France. Electronic address: k-yauy@chu-montpellier.fr., Baux D; Laboratoire de Génétique Moléculaire, CHU Montpellier, Montpellier, France., Pegeot H; Laboratoire de Génétique Moléculaire, CHU Montpellier, Montpellier, France., Van Goethem C; Laboratoire de Biopathologie Cellulaire et Tissulaire des Tumeurs, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France., Mathieu C; Laboratoire de Génétique Moléculaire, CHU Montpellier, Montpellier, France., Guignard T; Plateforme Recherche de Microremaniements Chromosomiques-Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier, France; Faculté de Médecine Montpellier-Nîmes, Université de Montpellier, Montpellier, France., Juntas Morales R; Laboratoire de Génétique Moléculaire, CHU Montpellier, Montpellier, France., Lacourt D; Laboratoire de Génétique Moléculaire, CHU Montpellier, Montpellier, France., Krahn M; Unité de Génétique Médicale et Génomique Fonctionnelle INSERM UMRS910, Université d'Aix Marseille, Marseille, France; Département de Génétique Médicale, Hôpital Timone Enfants, Assistance Publique Hôpitaux de Marseille, Marseille, France., Lehtokari VL; The Folkhalsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland., Bonne G; Unité INSERM U974-Thérapie des Maladies du Muscle Striée, Center of Research in Myology, Institut de Myologie, Université Pierre et Marie Curie, Sorbonne Universités, Paris, France., Tuffery-Giraud S; Laboratoire de Génétique des Maladies Rares EA7402, Université de Montpellier, Montpellier, France., Koenig M; Laboratoire de Génétique Moléculaire, CHU Montpellier, Montpellier, France; Laboratoire de Génétique des Maladies Rares EA7402, Université de Montpellier, Montpellier, France., Cossée M; Laboratoire de Génétique Moléculaire, CHU Montpellier, Montpellier, France; Laboratoire de Génétique des Maladies Rares EA7402, Université de Montpellier, Montpellier, France.
Publikováno v: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2018 Jul; Vol. 20 (4), pp. 465-473. Date of Electronic Publication: 2018 Apr 22.
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