Zobrazeno 1 - 10 of 115 pro vyhledávání: '"Larrieux, M."'
1
Akademický článek
Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.
Autor: Perrin A; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, INSERM, CNRS, Université de Montpellier, 34093 Montpellier, France., Garcia-Uzquiano R; AP-HP, GHU Université Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, 92380 Garches, France., Stojkovic T; AP-HP, Centre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France., Tard C; Département de Neurologie et des Troubles du Mouvement, U1172, Centre Hospitalo Universitaire (CHU) de Lille, CT, Centre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, 59000 Lille, France., Metay C; AP-HP, UF Molecular Cardiogenetics and Myogenetics, Sorbonne Université and Sorbonne Université UPMC Paris 06, Inserm UMRS974, Research Center in Myology, Pitié-Salpêtrière Hospital, 75013 Paris, France., Bergougnoux A; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, INSERM, CNRS, Université de Montpellier, 34093 Montpellier, France., Van Goethem C; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France., Thèze C; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France., Larrieux M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France., Faure-Gautron H; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, INSERM, CNRS, Université de Montpellier, 34093 Montpellier, France., Laporte J; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, CNRS UMR 7104, Université de Strasbourg, 67400 Illkirch, France., Lefebvre G; Service d'Imagerie Musculo-Squelettique, CCIAL, CHU de Lille, Rue Emile Laine, 59037 Lille, France., Krahn M; INSERM, Marseille Medical Genetics, U1251, Aix-Marseille Université, 13385 Marseille, France.; Département de Génétique Médicale, Hôpital Timone Enfants, APHM, 13385 Marseille, France., Juntas-Morales R; Neurology Department, Vall d'Hebron University Hospital, 08035 Barcelona, Spain., Titin's Network Collaborators, Koenig M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, INSERM, CNRS, Université de Montpellier, 34093 Montpellier, France., Quijano-Roy S; AP-HP, GHU Université Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, 92380 Garches, France.; U1179 INSERM-UVSQ, Université de Versailles, 78180 Montigny, France., Carlier RY; U1179 INSERM-UVSQ, Université de Versailles, 78180 Montigny, France.; AP-HP, GHU Université Paris-Saclay, DMU Smart Imaging, Radiology Department, Raymond Poincaré Teaching Hospital, 92380 Garches, France., Cossée M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, INSERM, CNRS, Université de Montpellier, 34093 Montpellier, France.
Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Dec 03; Vol. 25 (23). Date of Electronic Publication: 2024 Dec 03.
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2
Akademický článek
Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report.
Autor: Sabbagh Q; Montpellier University, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », ERN-ITHACA, Department of Clinical Genetics, University Hospital of Montpellier, Montpellier, France. q-sabbagh@chu-montpellier.fr., Larrieux M; Montpellier University, Molecular Diagnostic Laboratory, University Hospital of Montpellier, Montpellier, France., Schneider A; Montpellier University, Laboratory of Cytogenomics, University Hospital of Montpellier, Montpellier, France., Theze C; Montpellier University, Molecular Diagnostic Laboratory, University Hospital of Montpellier, Montpellier, France., Vincent MC; Montpellier University, Molecular Diagnostic Laboratory, University Hospital of Montpellier, Montpellier, France.; Montpellier University, INSERM, CNRS, PhyMedExp, Montpellier, France., Coubes C; Montpellier University, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », ERN-ITHACA, Department of Clinical Genetics, University Hospital of Montpellier, Montpellier, France., Puechberty J; Montpellier University, Laboratory of Cytogenomics, University Hospital of Montpellier, Montpellier, France., Renard S; Department of Obstetrics and Gynecology, Perpignan Hospital, Perpignan, France., Koenig M; Montpellier University, Molecular Diagnostic Laboratory, University Hospital of Montpellier, Montpellier, France.; Montpellier University, INSERM, CNRS, PhyMedExp, Montpellier, France., Pellestor F; Montpellier University, Laboratory of Cytogenomics, University Hospital of Montpellier, Montpellier, France., Cossée M; Montpellier University, Molecular Diagnostic Laboratory, University Hospital of Montpellier, Montpellier, France.; Montpellier University, INSERM, CNRS, PhyMedExp, Montpellier, France., Gatinois V; Montpellier University, Laboratory of Cytogenomics, University Hospital of Montpellier, Montpellier, France.
Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul 16. Date of Electronic Publication: 2024 Jul 16.
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3
Akademický článek
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains.
Autor: Perrin A; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France; PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France., Van Goethem C; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France., Thèze C; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France., Puechberty J; Department of Medical Genetics, Arnaud de Villeneuve Hospital, Montpellier, France., Guignard T; Laboratoire de Génétique Chromosomique, Plateforme ChromoStem, CHU de Montpellier, Université de Montpellier, Montpellier, France., Lecardonnel B; Laboratoire de Génétique Chromosomique, Plateforme ChromoStem, CHU de Montpellier, Université de Montpellier, Montpellier, France., Lacourt D; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France., Métay C; Assistance Publique-Hôpitaux de Paris (AP-HP), UF Molecular Cardiogenetics and Myogenetics, Sorbonne Université and Sorbonne Université UPMC Paris 06-Inserm UMRS974, Research Center in Myology, Pitié-Salpêtrière Hospital, Paris, France., Isapof A; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France., Whalen S; Genetics and Cytogenetics Department, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpétrière, AP-HP, Paris, France., Ferreiro A; AP-HP, Centre de Référence des Pathologies Neuromusculaires Nord-Est-Ile de France, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France; Basic and Translational Myology Laboratory, Université de Paris BFA, UMR 8251, CNRS, Paris, France., Arne-Bes MC; Department of Neurology, Purpan University Hospital, Toulouse, France., Quijano-Roy S; AP-HP, GH Université Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France; Université de Versailles, U1179 INSERM-UVSQ, Montigny, France., Nectoux J; Service de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, AP-HP, Centre-Université de Paris, Paris, France., Leturcq F; Department of Genetics and Molecular Biology, AP-HP, Cochin Hospital, Paris, France., Richard P; Assistance Publique-Hôpitaux de Paris (AP-HP), UF Molecular Cardiogenetics and Myogenetics, Sorbonne Université and Sorbonne Université UPMC Paris 06-Inserm UMRS974, Research Center in Myology, Pitié-Salpêtrière Hospital, Paris, France., Larrieux M; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France., Bergougnoux A; PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France., Pellestor F; Laboratoire de Génétique Chromosomique, Plateforme ChromoStem, CHU de Montpellier, Université de Montpellier, Montpellier, France., Koenig M; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France; PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France., Cossée M; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France; PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France. Electronic address: mireille.cossee@inserm.fr.
Publikováno v: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2022 Jul; Vol. 24 (7), pp. 719-726. Date of Electronic Publication: 2022 May 14.
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4
Legal protection of the rights of older persons against ageism
Autor: Munuera Gómez, Pilar, Blanco Larrieux, M. E.
Publikováno v: E-Prints Complutense: Archivo Institucional de la UCM
Universidad Complutense de Madrid
E-Prints Complutense. Archivo Institucional de la UCM
instname
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2dde3e4281d8c84b1148cabb44ec517c
https://eprints.ucm.es/48918/
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6
Akademický článek
Alu element insertion in the MLH1 exon 6 coding sequence as a mutation predisposing to Lynch syndrome.
Autor: Solassol J; Department of Pathology and Oncobiology, Montpellier University Hospital, Montpellier, France.; IRCM Inserm, Montpellier University, Montpellier, France., Larrieux M; Department of Pathology and Oncobiology, Montpellier University Hospital, Montpellier, France., Leclerc J; Department of Biochemistry and Molecular Biology, and Inserm UMR-S, Lille University Hospital, JPA Research Center, Lille University, Lille, France., Ducros V; Department of Pathology and Oncobiology, Montpellier University Hospital, Montpellier, France., Corsini C; Department of Genetics, Montpellier University Hospital, Montpellier, France., Chiésa J; Department of Cytogenetics, Nimes University Hospital, Nîmes, France., Pujol P; Department of Genetics, Montpellier University Hospital, Montpellier, France.; Montpellier University, Montpellier, France., Rey JM; Department of Pathology and Oncobiology, Montpellier University Hospital, Montpellier, France.
Publikováno v: Human mutation [Hum Mutat] 2019 Jun; Vol. 40 (6), pp. 716-720.
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7
Akademický článek
Benchmarking of Amplicon-Based Next-Generation Sequencing Panels Combined with Bioinformatics Solutions for Germline BRCA1 and BRCA2 Alteration Detection.
Autor: Vendrell JA; Solid Tumor Laboratory, Department of Pathology and Oncobiology, CHU Montpellier, University of Montpellier, Montpellier, France., Vilquin P; Solid Tumor Laboratory, Department of Pathology and Oncobiology, CHU Montpellier, University of Montpellier, Montpellier, France., Larrieux M; Solid Tumor Laboratory, Department of Pathology and Oncobiology, CHU Montpellier, University of Montpellier, Montpellier, France., Van Goethem C; Solid Tumor Laboratory, Department of Pathology and Oncobiology, CHU Montpellier, University of Montpellier, Montpellier, France., Solassol J; Solid Tumor Laboratory, Department of Pathology and Oncobiology, CHU Montpellier, University of Montpellier, Montpellier, France; The Institute of Cancer Research of Montpellier, INSERM U1194, University of Montpellier, Montpellier, France. Electronic address: j-solassol@chu-montpellier.fr.
Publikováno v: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2018 Nov; Vol. 20 (6), pp. 754-764. Date of Electronic Publication: 2018 Jul 25.
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8
Report
Comparison of five cell-free DNA isolation methods to detect the EGFR T790M mutation in plasma samples of patients with lung cancer.
Autor: Solassol J; Department of Pathology, CHU Montpellier, University of Montpellier, Montpellier, France.; Department of Biopathology, Institut du Cancer de Montpellier (ICM), University of Montpellier, Montpellier, France.; Institut de Recherche en Cancérologie de Montpellier (IRCM), INSERM U1194, University of Montpellier, Montpellier, France., Quantin X; Department of Thoracic Oncology, CHU Montpellier, University of Montpellier, Montpellier, France., Larrieux M; Department of Pathology, CHU Montpellier, University of Montpellier, Montpellier, France., Senal R; Department of Biopathology, Institut du Cancer de Montpellier (ICM), University of Montpellier, Montpellier, France., Audran P; Department of Biopathology, Institut du Cancer de Montpellier (ICM), University of Montpellier, Montpellier, France., Grand D; Department of Pathology, Institut Universitaire du Cancer Toulouse Oncopole, CHU de Toulouse, Toulouse, France., Mangé A; Institut de Recherche en Cancérologie de Montpellier (IRCM), INSERM U1194, University of Montpellier, Montpellier, France., Diamandis EP; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.; Department of Clinical Biochemistry, University Health Network, Toronto, Canada., Vendrell JA; Department of Pathology, CHU Montpellier, University of Montpellier, Montpellier, France.
Publikováno v: Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2018 Aug 28; Vol. 56 (9), pp. e243-e246.
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9
Akademický článek
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10
Akademický článek
High-throughput detection of clinically targetable alterations using next-generation sequencing.
Autor: Vendrell JA; CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Pathology, Montpellier, France., Grand D; Department of Pathology, Institut Universitaire du Cancer Toulouse Oncopole, CHU de Toulouse, Toulouse, France., Rouquette I; Department of Pathology, Institut Universitaire du Cancer Toulouse Oncopole, CHU de Toulouse, Toulouse, France., Costes V; CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Pathology, Montpellier, France., Icher S; Department of Pathology, Institut Universitaire du Cancer Toulouse Oncopole, CHU de Toulouse, Toulouse, France., Selves J; Department of Pathology, Institut Universitaire du Cancer Toulouse Oncopole, CHU de Toulouse, Toulouse, France., Larrieux M; CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Pathology, Montpellier, France., Barbe A; Department of Pathology, Institut Universitaire du Cancer Toulouse Oncopole, CHU de Toulouse, Toulouse, France., Brousset P; Department of Pathology, Institut Universitaire du Cancer Toulouse Oncopole, CHU de Toulouse, Toulouse, France.; Université de Montpellier, Montpellier, France., Solassol J; CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Pathology, Montpellier, France.; INSERM, U1194, Montpellier, France.; Laboratoire d'excellence Labex TOUCAN, Toulouse, France.
Publikováno v: Oncotarget [Oncotarget] 2017 Jun 20; Vol. 8 (25), pp. 40345-40358.
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