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1
المؤلفون: Wendt, Camilla, Muranen, Taru A, Mielikäinen, Lotta, Thutkawkorapin, Jessada, Blomqvist, Carl, Jiao, Xiang, Ehrencrona, Hans, Tham, Emma, Arver, Brita, Melin, Beatrice, Kuchinskaya, Ekaterina, Stenmark Askmalm, Marie, Paulsson-Karlsson, Ylva, Einbeigi, Zakaria, von Wachenfeldt Väppling, Anna, Kalso, Eija, Tasmuth, Tiina, Kallioniemi, Anne, Aittomäki, Kristiina, Nevanlinna, Heli, Borg, Åke, Lindblom, Annika
المصدر: Scientific Reports. 11:1-9
مصطلحات موضوعية: Breast Neoplasms/genetics, Case-Control Studies, Checkpoint Kinase 2/genetics, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Multifactorial Inheritance, Sequence Deletion, Exome Sequencing/methods, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Medical and Health Sciences, Clinical Medicine, Cancer and Oncology
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2دورية أكاديمية
المؤلفون: Imani, Saber, Cheng, Jingliang, Fu, Jiewen, Mobasher-Jannat, Abdolkarim, Wei, Chunli, Mohazzab-Torabi, Saman, Jadidi, Khosrow, Khosravi, Mohammad Hossein, Shasaltaneh, Marzieh Dehghan, Yang, Lisha, Khan, Md Asaduzzaman, Fu, Junjiang
المصدر: Bioscience Reports, 39 (3) (2019)
مصطلحات موضوعية: BBS5 gene, Bardet-Biedl syndrome, Splicing variant, Targeted exome sequencing, BBS5 protein, human, Cytoskeletal Proteins, Phosphate-Binding Proteins, Bardet-Biedl Syndrome/genetics, Bardet-Biedl Syndrome/pathology, Child, Cytoskeletal Proteins/genetics, Family Health, Female, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Iran, Male, Pedigree, Phosphate-Binding Proteins/genetics, Whole Exome Sequencing/methods, Young Adult, Mutation, RNA Splicing, Biophysics, Biochemistry, Molecular Biology, Cell Biology, Human health sciences, Ophthalmology, Sciences de la santé humaine, Ophtalmologie
Relation: urn:issn:0144-8463; urn:issn:1573-4935
URL الوصول: https://orbi.uliege.be/handle/2268/290035
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3دورية أكاديمية
المؤلفون: Imani, Saber, Cheng, Jingliang, Mobasher-Jannat, Abdolkarim, Wei, Chunli, Fu, Shangyi, Yang, Lisha, Jadidi, Khosrow, Khosravi, Mohammad Hossein, Mohazzab-Torabi, Saman, Shasaltaneh, Marzieh Dehghan, Li, Yumei, Chen, Rui, Fu, Junjiang
المصدر: Journal of Cellular and Molecular Medicine, 22 (3), 1733-1742 (2018)
مصطلحات موضوعية: RPGRIP1, Iran, leber congenital amaurosis, mutation, target exome sequencing, Cytoskeletal Proteins, Proteins, RPGRIP1 protein, human, DNA Mutational Analysis/methods, Family Health, Female, Humans, Leber Congenital Amaurosis/genetics, Male, Pedigree, Proteins/genetics, Whole Exome Sequencing/methods, Mutation, DNA Mutational Analysis, Whole Exome Sequencing, Molecular Medicine, Cell Biology, Human health sciences, Ophthalmology, Sciences de la santé humaine, Ophtalmologie
Relation: https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fjcmm.13454; urn:issn:1582-1838; urn:issn:1582-4934
URL الوصول: https://orbi.uliege.be/handle/2268/290025
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4
المؤلفون: Nicole M. A. Blijlevens, M.R. Nijziel, Joline L Saes, Bert A. van der Reijden, Waander L. van Heerde, Y. Smit, Paul P. T. Brons, Annet Simons, Sonja A. de Munnik, Saskia E M Schols, Marjolijn C.J. Jongmans
المصدر: Haemophilia, 25, 127-135
Haemophilia, 25, 1, pp. 127-135
Haemophilia, 25(1), 127. Wiley-Blackwellمصطلحات موضوعية: Male, Candidate gene, Factor VIII/genetics, Whole Exome Sequencing/methods, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Factor VII/genetics, Molecular Motor Proteins/genetics, genetic analysis, 030204 cardiovascular system & hematology, whole exome sequencing, Cancer development and immune defence Radboud Institute for Health Sciences [Radboudumc 2], 0302 clinical medicine, OMIM : Online Mendelian Inheritance in Man, platelet disorders, Genetics(clinical), Genetics (clinical), Exome sequencing, bleeding disorders, Hematology, Molecular Motor Proteins, General Medicine, Diathesis, Factor VII, Middle Aged, Thrombosis, personalized treatment, von Willebrand Factor/genetics, Female, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Genotype, Platelet disorder, Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9], Hemorrhagic Disorders, 03 medical and health sciences, Myosin Heavy Chains/genetics, All institutes and research themes of the Radboud University Medical Center, Internal medicine, Endoribonucleases, Exome Sequencing, von Willebrand Factor, Endoribonucleases/genetics, medicine, Journal Article, haemostasis diagnostics, Humans, Genetic Predisposition to Disease, Factor VIII, Myosin Heavy Chains, business.industry, Hemorrhagic Disorders/diagnosis, medicine.disease, Bleeding diathesis, business, 030215 immunology
وصف الملف: application/pdf; image/pdf; text/plain
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5
المؤلفون: Carlo Rivolta, Béryl Royer Bertrand, Virginie G. Peter, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Luisa Coutinho Santos, Alireza Pasdar, Katarina Cisarova, Mehran Piran, Mathieu Quinodoz, Nicola Bedoni, Ali Ghanbari Asad, Andrea Superti-Furga, Majid Mojarrad, Ana Berta Sousa
المساهمون: Repositório da Universidade de Lisboa
المصدر: Nature communications, vol. 12, no. 1, pp. 518
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-7 (2021)مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Genotype, Computer science, Bioinformatics, Science, General Physics and Astronomy, Computational biology, Chromosome Mapping/methods, Computational Biology/methods, Genetic Predisposition to Disease/genetics, Genome, Human/genetics, High-Throughput Nucleotide Sequencing/methods, Homozygote, Humans, Internet, Mutation, Polymorphism, Single Nucleotide, Reproducibility of Results, Software, Whole Exome Sequencing/methods, 030105 genetics & heredity, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, Article, 03 medical and health sciences, Consanguinity, Exome Sequencing, medicine, Genetic Predisposition to Disease, Exome sequencing, Whole genome sequencing, Variant Call Format, Multidisciplinary, Genome, Human, Chromosome Mapping, Computational Biology, High-Throughput Nucleotide Sequencing, General Chemistry, Genomics, Disease gene identification, Human genetics, 030104 developmental biology, Next-generation sequencing, Medical genetics, Microsatellite
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a2c3b02407893cc63692f43ede378f
https://serval.unil.ch/notice/serval:BIB_03712A3BC8BB -
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المؤلفون: Niels Morling, Clàudia Congost-Teixidor, Jeppe Dyrberg Andersen, Stine B Jacobsen, Sofie Lindgren Christiansen, Marie-Louise Kampmann, Linea Christine Trudsø
المصدر: PLoS ONE
Trudsø, L C, Andersen, J D, Jacobsen, S B, Christiansen, S L, Congost-Teixidor, C, Kampmann, M-L & Morling, N 2020, ' A comparative study of single nucleotide variant detection performance using three massively parallel sequencing methods ', PLoS ONE, vol. 15, no. 9, e0239850 . https://doi.org/10.1371/journal.pone.0239850
PLoS ONE, Vol 15, Iss 9, p e0239850 (2020)مصطلحات موضوعية: 0301 basic medicine, Heredity, Whole Exome Sequencing/methods, Gene Sequencing, 030204 cardiovascular system & hematology, Genome, Homozygosity, 0302 clinical medicine, Exome, Genome Sequencing, DNA sequencing, Exome sequencing, High-Throughput Nucleotide Sequencing/methods, Multidisciplinary, Massive parallel sequencing, Heterozygosity, Channelopathies/genetics, High-Throughput Nucleotide Sequencing, Genomics, Genetic Mapping, Sequence Analysis, DNA/methods, Medicine, Cardiomyopathies, Research Article, Genotype, Science, Cardiomyopathies/genetics, Nucleotide Sequencing, Variant Genotypes, Computational biology, Biology, Research and Analysis Methods, Polymorphism, Single Nucleotide, Sensitivity and Specificity, 03 medical and health sciences, Exome Sequencing, Genetics, Humans, Molecular Biology Techniques, Sequencing Techniques, Molecular Biology, Alleles, Whole genome sequencing, Genome, Human, nutritional and metabolic diseases, Biology and Life Sciences, Sequence Analysis, DNA, Human genetics, 030104 developmental biology, Genetic Loci, Channelopathies
وصف الملف: application/pdf
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المؤلفون: Catarina Campos, Cheila Brito, Cecília Moura, João B. Vicente, Filipe Pinto, Margarida Pataco, Joaninha Costa Rosa, S. Santos, Branca M. Cavaco, Rafael Luís, P. Machado, S. Fragoso, Marta Pojo, Susana Esteves
المساهمون: Instituto de Investigação e Inovação em Saúde, Instituto de Tecnologia Química e Biológica António Xavier (ITQB), NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
المصدر: Genes, Vol 11, Iss 403, p 403 (2020)
Genes
Volume 11
Issue 4مصطلحات موضوعية: 0301 basic medicine, Male, Guanine Nucleotide Exchange Factors / genetics, hereditary melanoma, 0302 clinical medicine, CDH23, Melanoma / pathology, Cadherins / genetics, Germ-Line Mutation / genetics, Guanine Nucleotide Exchange Factors, Genetics(clinical), Exome, Hereditary Melanoma, Melanoma, Genetics (clinical), Exome sequencing, High-Throughput Nucleotide Sequencing, Middle Aged, Cadherins, High-Throughput Nucleotide Sequencing / methods, Gene Expression Regulation, Neoplastic, Gene Expression Regulation, Neoplastic / genetics, 030220 oncology & carcinogenesis, germline mutations, WES, Female, Cutaneous melanoma, Adult, lcsh:QH426-470, In silico, Cadherin Related Proteins, Biology, Article, DNA sequencing, cutaneous melanoma, 03 medical and health sciences, Germline mutation, SDG 3 - Good Health and Well-being, Transcription Factors / genetics, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Germline mutations, neoplasms, Germ-Line Mutation, Aged, medicine.disease, Melanoma / genetics, lcsh:Genetics, 030104 developmental biology, Exome / genetics, Cancer research, Hereditary melanoma, Whole Exome Sequencing / methods, Transcription Factors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bb34954b949887bb1105971041f80bc
https://hdl.handle.net/10216/142513 -
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المؤلفون: Virginie G. Peter, Andrea Superti-Furga, Mathieu Quinodoz, Carlo Rivolta, Atta Ur Rehman, Abdur Rashid, Syed Akhtar Khan
المصدر: Genes
Volume 11
Issue 1
Genes, vol. 11, no. 1مصطلحات موضوعية: 0301 basic medicine, Proband, Candidate gene, Population, Consanguinity, hereditary retinal diseases, Biology, Compound heterozygosity, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, consanguinity, Genetics, Pakistan, education, Genotyping, Genetics (clinical), Sanger sequencing, education.field_of_study, 3. Good health, 030104 developmental biology, ATP-Binding Cassette Transporters/genetics, DNA Mutational Analysis, Female, Founder Effect, Humans, Male, Mutation, Nicotinamide-Nucleotide Adenylyltransferase/genetics, Pakistan/epidemiology, Pedigree, Prevalence, Retinal Diseases/epidemiology, Retinal Diseases/genetics, Sequence Analysis, DNA, Whole Exome Sequencing/methods, autozygosity mapping, 030221 ophthalmology & optometry, symbols, Founder effect
وصف الملف: application/pdf
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المصدر: Human Molecular Genetics. 27(3):529-545
مصطلحات موضوعية: Male, Carrier Proteins/genetics, Genotype, Whole Exome Sequencing/methods, DISORDERS, LEFT-RIGHT ASYMMETRY, PROTEIN, Missense/genetics, VARIANTS, Tumor Suppressor Proteins/genetics, ATPases Associated with Diverse Cellular Activities/genetics, DISEASE, HETEROTAXY, Cilia/metabolism, Zebrafish Proteins/genetics, Animals, Humans, DYSKINESIA, Zebrafish, MUTATIONS, DNA Helicases/genetics, DEFECTS, Microtubule-Associated Proteins/genetics, Pedigree, HEK293 Cells, Phenotype, Mutation, AXONEMAL DYNEINS, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___00893::29715cb1fa9b3eb34aae8376eed1a930
https://doi.org/10.1093/hmg/ddx422 -
10
المؤلفون: Bertrand Joly, Hagay Sobol, Isabelle Azais, Hervé Avet-Loiseau, Karine Augeul-Meunier, Catherine Le Bris, Delphine Demangel, Maroulio Pertesi, Xavier Leleu, Maria Victoria Revuelta, Maxime Vallée, Manuel Cliquennois, James D. McKay, Aurore Perrot, Aleksandra Butrym, Matthieu Foll, Björn Nilsson, Javier Oliver, Judit Várkonyi, Emeline Perrial, Xiaomu Wei, Artur Jurczyszyn, Gabriele Buda, Marcin Rymko, Cécile Leyronnas, Robert J. Klein, Elżbieta Iskierka-Jażdżewska, Claire Mathiot, Marzena Wątek, Eric Voog, Olivier Decaux, Florence Desquesnes, Jill Corre, Arnon Nagler, Jean Gabriel Fuzibet, Véronique Dorvaux, Jan Maciej Zaucha, Philippe Rodon, Siwei Chen, Denis Caillot, Laurent Garderet, Michel Maigre, Isabelle Leduc, Fabienne Lesueur, Borhane Slama, Sophie Rigaudeau, Philippe Mineur, Norbert Grząśko, Perrine Galia, Rui Manuel Reis, Federico Canzian, Philippe Helias, Yves-Jean Bignon, Marcin Kruszewski, Victor Moreno, Juan Sainz, Nathalie Cheron, Laurent Voillat, Charles Dumontet, Christian Berthou, Marie Beaumont, Brigitte Pegourie, Etienne Paubelle, Marguerite Vignon, Matteo Pelosini, Philippe Casassus, Isabelle Lambrecht, Laure Vincent, Eileen M Boyle, Annette Juul Vangsted, Pascal Bourquard, Laurent Mosser, Margaret Macro, Gerald Marit, Daniele Campa, Brigitte Kolb, Bruno Royer, Jean Fontan, Ramón García-Sanz, Philippe Moreau, Serge Leyvraz, Malgorzata Krawczyk-Kulis, Krzysztof Jamroziak, Joaquin Martinez-Lopez, Bruno Anglaret, Steven M. Lipkin, Nicole Frenkiel, Ofure Obazee, Marek Dudziński, Pascale Cony-Makhoul, Hervé Naman, Andres Jerez
المساهمون: Lund University and Hospital Department of Hematology, Lund Stem Cell Center, Lund, Sweden, Genetic Cancer Susceptibility, Department of Biological Statistics and Computational Biology, Cornell University, Weill Medical College of Cornell University Division of International Medicine and Infectious Diseases, Weill Medical College of Cornell University [New York], Hospices Civils de Lyon (HCL), ProfileXpert, Université de Lyon, LCMT, ProfileXpert, Biomedical Research Institute of Málaga (IBIMA), Centre de Recherche en Cancérologie de Lyon (CRCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Pathologies biliaires, fibrose et cancer du foie (Inserm UMR_S 938), CHU Saint-Antoine [APHP]-Centre de Recherche Saint-Antoine (CR Saint-Antoine), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Saint-Antoine [APHP], Sorbonne Universités, UPMC Univ Paris 06, CNRS UMR 7371, INSERM UMR S1146, Laboratoire d'Imagerie Biomédicale, France, parent, Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), CIC - Poitiers, Université de Poitiers-Centre hospitalier universitaire de Poitiers (CHU Poitiers)-Direction Générale de l'Organisation des Soins (DGOS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Département de Médecine Interne [CHU Rennes], Université de Rennes 1 - Faculté de Médecine (UR1 Médecine), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Microenvironment, Cell Differentiation, Immunology and Cancer (MICMAC), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Hopital de Périgueux (CH Périgueux), Hopital de Périgueux, Service d'Hématologie, Centre Hospitalier Universitaire de Reims (CHU Reims), Centre Hospitalier Henri Duffaut (Avignon), Département Oncologie-Hématologie [Charleroi, Belgium], Grand Hôpital de Charleroi [Belgium], Centre Jean Bernard [Le Mans] (Institut Inter-Régional de Cancérologie), CHU de Fort de France (Service Post-Urgences, Pôle RASSUR), CHU de Fort de France, Hôpital JeanMinjoz, Centre hospitalier de Chartres (Chartres) (Service d'Hémato-Oncologie), Service hématologie (CHU d'Amiens), CHU Amiens-Picardie, Service de rhumatologie [Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Service d'Hématologie [AP-HP Hôpital Saint-Louis], AP-HP Hôpital Saint-Louis, Institut Universitaire d'Hématologie [Hôpital Saint-Louis - APHP], CHU Saint Louis [APHP], Service d'Hématologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Médecine Interne [CHU Nice] (Hôpital l'Archet), Hôpital l'Archet-Centre Hospitalier Universitaire de Nice (CHU de Nice), Service d'hématologie [CHR Metz-Thionville], Centre hospitalier régional Metz-Thionville (CHR Metz-Thionville), Centre Hospitalier de Valence (Unité d'Hématologie), Centre hospitalier de Valence, Centre Hospitalier Annecy-Genevois [Saint-Julien-en-Genevois], Lymphocyte B et Auto-immunité (LBAI), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), CHRU Brest - Service d'Hématologie (CHU-Brest-Hemato), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Hematology Department - Namur Thrombosis and Hemostasis Center (NTHC), UCL Mont-Godinne, Clinique Universitaire d'Hématologie [La Tronche, Grenoble], Centre Hospitalier Universitaire [Grenoble] (CHU), CHUV, Lausanne (Departement d'Oncologie), Unité d'Oncologie Médicale, Rodez (Hôpital Jacques Puel, Pôle Medical 2), Unité de coordination en oncogériatrie de Basse-Normandie [Caen] (UCOG Basse-Normandie), CHI Poissy-Saint-Germain, Institut de Cancérologie Lucien Neuwirth, CHU Saint-Etienne, CHG Abbeville (Hématologie), Institut Daniel Hollard [Grenoble], Service d'hématologie et oncologie [Centre Hospitalier de Chalon-sur-Saône William Morey], Centre Hospitalier Chalon-sur-Saône William Morey, Service d'hématologie clinique [Avicenne], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Avicenne, Intergroupe francophone du myélome (IFM), Service d'Onco-Hématologie, Centre Médical de Bligny, Briis sous Forges, Service Hématologie, CH LYON SUD, Pierre benite, Service d'Hématologie [Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), Imagerie Moléculaire et Stratégies Théranostiques - Clermont Auvergne (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Hôpital Sud-Fancilien, CH Sud-Fancilien, Département d'Hématologie [CHU Nîmes], Centre Hospitalier Universitaire de Nîmes (CHU de Nîmes), Service d'Hématologie Clinique (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hématologie, Oncologie Médicale, Centre Azureen de cancérologie, Centre Azureen de cancérologie, Unité d'hématologie et d'oncologie [Centre Hospitalier de Versailles], Centre Hospitalier de Versailles (CHV), Inserm U1035, Biotherapies des Maladies Genetiques et Cancers, Univ Bordeaux, CHU de Bordeaux, Pole de Biologie et Pathologie, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire d'Hématologie Biologique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de Rhumatologie [Reims], Groupe Hospitalier de l'Institut Catholique de Lille (GHICL), CHU Montpellier, Department of Clinical Hematology, Montpellier, France, Hospitalier et Universitaire de Pointe-à-Pitre (Oncologie Médicale), Centre de Recherches en Cancérologie de Toulouse (CRCT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CIBER Epidemiologia y Salud Pùblica [Madrid, Spain] (CIBERESP), Instituto de Salud Carlos III (ISC), Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Life and Health Sciences Research Institute [Braga] (ICVS), University of Minho [Braga], Barretos Cancer Hospital [São Paulo, Brazil], Department of Genetics, Cell and Immunobiology, Semmelweis University, Budapest, Hungary, Department of Rheumatology, 3rd Department of Internal Medicine, Semmelweis University, Budapest, Departement of Hematology, University Hospital, Bydgoszcz, Department of Hematology, Rigshospitalet, Copenhagen, Denmark, Department of Hematology, Jagiellonian University - Medical College, Gdynia Oncology Center, Gdynia and Department of Oncological Propedeutics, Genomic Oncology Area (GENYO), Department of Hematology and Bone Marrow Transplantation, Silesian Medical University, Department of Hematology, Insitute of Hematology and Transfusion Medicine, Warsa, Holycross Cancer Center of Kelce, Hematology Clinic, Kielce, Department of Oncology, Transplants and Advanced Technologies, Section of Hematology, Pisa University, Department of Hematology, Medical University of Lodz, Departement of Experimental Hemato-Oncology, Medical University of Lubli (Polish Myeloma Study Group), Servicio de Hematología, Hospital Universitario 12 de Octubre [Madrid], Hematology and Medical Oncology Department, Hospital Morales Meseguer, Murcia (IMIB), Department of Biology, University of Pisa, Cancer et génôme: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, MINES ParisTech - École nationale supérieure des mines de Paris-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Hematology Department, Teaching Hospital No1, Rzeszow, Teaching Hospital N°1, Haematology Department, University Hospital of Salamanca, Hematology Division Chaim Sheba Medical Center, Tel Hashomer, Department of Hematology Copernicus Hospital, Torun, Department of Hematology, Institute of Hematology and Transfusion Medicine, Warsaw, Wroclaw Medical University, Department of Cancer Epidemiology, German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany, Icahn School of Medicine at Mount Sinai [New York] (MSSM), International Agency for Cancer Research (IACR), INSERM 1052, CNRS 5286, CRCL Lyon, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service d'hématologie, Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'Hématologie [AP-HP Hôpital Saint-Antoine], AP-HP - Hôpital Saint-Antoine, Centre de Recherche en Cancérologie de Toulouse (CRCT), Université Toulouse III - Paul Sabatier (UPS), Hôpital Claude Huriez, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d'hématologie [Reims], Hôpital Robert Debré, Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims)-Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Centre Hospitalier Universitaire de Charleroi (Hématologie et pathologies de la coagulation), Centre Hospitalier Universitaire de Charleroi, Service d'hématologie, Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon)-Hôpital Jean Minjoz, Université de Poitiers-Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service d'Oncologie Génétique, de Prévention et Dépistage, Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), Service d'Immunopathologie [Hôpital Saint-Louis, Paris], Université Paris Diderot - Paris 7 (UPD7)-CHU Saint Louis [APHP], Département Universitaire Nice (Internal Medicine Department), Hôpital de Nice, Service d'hématologie biologique [Avicenne], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Avicenne-Université Paris 13 (UP13), Laboratoire de diagnostic génétique et moléculaire, Centre Jean Perrin, Centre Hospitalier Régional Universitaire de Nîmes (CHRU Nîmes), CHU Dijon, Biothérapies des maladies génétiques et cancers, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Universitaire de Caen, Département d’Hématologie Clinique [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Laboratoire de génomique du myélome [IUCT Oncopole, Toulouse], IUCT Oncopole - Institut Universitaire du Cancer de Toulouse, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], CIBER de Epidemiología y Salud Pública (CIBERESP), Biomarkers and Susceptibility Unit, Catalan Institute of Oncology, Molecular Oncology Research Center [São Paulo, Brazil], Centro de Genomica e Investigacion Oncologica (GENYO), Hospital universitario 12 de Octubre, Holycross Cancer Center of Kielce, Hematology Clinic, Department of Laboratory Medicine Lunds University Hospital Lund, Cornell University [New York], Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Pathologies biliaires, fibrose et cancer du foie [CHU Saint-Antoine], Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire d'Imagerie Biomédicale (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Médecine interne et immunologie clinique [Rennes] = internal medicine and clinical immunology [Rennes], CHU Pontchaillou [Rennes], Centre Jean Bernard [Institut Inter-régional de Cancérologie - Le Mans], Laboratoire d'Hématologie [CHU Amiens], Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre Hospitalier de Versailles André Mignot (CHV), Instituto de Salud Carlos III [Madrid] (ISC), Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Jonchère, Laurent, Lund University [Lund], Pathologies biliaires, fibrose et cancer du foie [CRSA], Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Lymphocytes B, Autoimmunité et Immunothérapies (LBAI), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-LabEX IGO Immunothérapie Grand Ouest, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Institut Brestois Santé Agro Matière (IBSAM), Université catholique de Lille (UCL), Uniwersytet Jagielloński w Krakowie = Jagiellonian University (UJ), University of Pisa - Università di Pisa, Mines Paris - PSL (École nationale supérieure des mines de Paris), Wrocław Medical University, Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes - Faculté de Médecine (UR Médecine), Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Leukemia
Leukemia, Nature Publishing Group: Open Access Hybrid Model Option B, 2019, 33 (9), pp.2324-2330. ⟨10.1038/s41375-019-0452-6⟩
Leukemia, Vol. 33, no. 9, p. 2324-2330 (2019)
Dipòsit Digital de la UB
Universidad de Barcelona
Leukemia, Nature Publishing Group: Open Access Hybrid Model Option B, 2019, ⟨10.1038/s41375-019-0452-6⟩
Leukemia, 2019, 33 (9), pp.2324-2330. ⟨10.1038/s41375-019-0452-6⟩
Leukemia, vol. 33, no. 9, pp. 2324-2330مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Letter, [SDV]Life Sciences [q-bio], MEDLINE, Library science, Myeloma, World health, 03 medical and health sciences, 0302 clinical medicine, Multiple myeloma, immune system diseases, Political science, hemic and lymphatic diseases, Exome Sequencing, Genetics, Humans, Exome, Genetic Predisposition to Disease, Cancer genetics, Exome sequencing, Germ-Line Mutation, ComputingMilieux_MISCELLANEOUS, Exosome Multienzyme Ribonuclease Complex, Extramural, Mieloma múltiple, French, Hematology, language.human_language, 3. Good health, Pedigree, [SDV] Life Sciences [q-bio], Exome/genetics, Exosome Multienzyme Ribonuclease Complex/genetics, Female, Genetic Predisposition to Disease/genetics, Germ-Line Mutation/genetics, Multiple Myeloma/genetics, Whole Exome Sequencing/methods, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Donation, language, Multiple Myeloma, Genètica, International agency
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