المؤلفون: Céline Guien, Gaëlle Blandin, Pauline Lahaut, Benoît Sanson, Katia Nehal, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Nicolas Lévy, Sabrina Sacconi, Christophe Béroud

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: Patient registry, Database, Facioscapulohumeral muscular dystrophy, FSHD, FSHD1, FSHD2, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0960-x; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1d253328860746cc93b723944ebbca3c

المؤلفون: Christophe Béroud, Celine Guien, Benoît Sanson, Sitraka Rabarimeriarijaona, Sabrina Sacconi, Katia Nehal, Pauline Lahaut, Rafaëlle Bernard, Gaëlle Blandin, Nicolas Lévy

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Institut de biologie structurale (IBS - UMR 5075 ), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de signalisation, biologie du développement et cancer (ISBDC), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), GUIEN, Céline

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2018, 13 (1), ⟨10.1186/s13023-018-0960-x⟩
Orphanet Journal of Rare Diseases, 2018, 13 (1), ⟨10.1186/s13023-018-0960-x⟩
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: medicine.medical_specialty, Neuromuscular disease, Databases, Factual, Myopathy, Population, lcsh:Medicine, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Terminology, FSHD2, Database, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Facioscapulohumeral muscular dystrophy, Surveys and Questionnaires, medicine, Humans, Pharmacology (medical), 030212 general & internal medicine, Registries, education, Genetics (clinical), [INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM], education.field_of_study, FSHD, business.industry, Research, lcsh:R, General Medicine, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, Clinical trial, FSHD1, Identification (information), [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Family medicine, Data quality, Patient registry, National registry, France, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad2fc38ab77f5c53456f9b98cb7c9978
https://hal-amu.archives-ouvertes.fr/hal-01984873/document

المؤلفون: David W. Johnson, Barclay G. Barrell, Sharon Moule, Luke J. Tallon, Ian Goodhead, Lihua Hou, Jeremy Peterson, Danielle Walker, David M. A. Martin, Sara E. Melville, Kristine Jones, Martin Aslett, Appolinaire Djikeng, Neil Hall, Inna Cherevach, Hean Koo, Ester Rabbinowitsch, Steven L. Salzberg, Sarah Sharp, Mark Raymond Adams, Claire Arrowsmith, Andrew Barron, Elisabetta Ullu, Rebecca Atkin, Mark Simmonds, Al Ivens, John E. Donelson, Elodie Ghedin, P. Mooney, Adrian Tivey, Tamara Feldblyum, Audrey Fraser, Natasha Larke, Keith Gull, Jonathon Doggett, Doug Ormond, Jennifer R. Wortman, Claire M. Fraser, Carol Churcher, Mark Carrington, Chris P Reitter, Anjana J. Simpson, Joshua Shallom, Louise Clark, Brian J. Haas, Arnaud Kerhornou, Andrew Tait, Matthew Berriman, Mandy Sanders, Halina Norbertczak, Justin Johnson, Sally Whitehead, Jessica B. Hostetler, Scott M. Landfear, Frédéric Bringaud, Barbara Harris, Ann Cronin, J. David Barry, Fred R. Opperdoes, U. Cecilia M. Alsmark, Brian White, Craig Corton, John Woodward, Najib M. El-Sayed, Alexandra Line, Elisabet Caler, Annette MacLeod, Heidi Hauser, T. Martin Embley, Marie-Adèle Rajandream, Daniella Castanheira Bartholomeu, Mark C. Field, Angela Lord, Linda Hannick, C. Michael R. Turner, Gareth W. Morgan, Hubert Renauld, Bill Wickstead, Christiane Hertz-Fowler, Gaëlle Blandin, Shiliang Wang, Christopher S. Peacock, Tracey-Jane Chillingworth, Michael A. Quail, Karen Mungall, Robert L. Davies, Vanessa Leech, Alan H. Fairlamb, Susan Van Aken, Nicola Lennard, N. Hamlin, Ulrike Böhme, Karen Brooks, Owen White, Christopher Larkin, Lucio Marcello, Zahra Hance, David Harper, David Wanless, Grace Pai, Kay Jagels, Seth Schobel

مصطلحات موضوعية: Glycosylphosphatidylinositols, Spermidine, Pseudogene, Genes, Protozoan, Molecular Sequence Data, Trypanosoma brucei brucei, Protozoan Proteins, Antigens, Protozoan, Trypanosoma brucei, Genome, Chromosomes, Ergosterol, parasitic diseases, Animals, Humans, Ectopic recombination, Amino Acids, Gene, Cytoskeleton, Genomic organization, Recombination, Genetic, Genetics, Multidisciplinary, biology, Sequence Analysis, DNA, Lipid Metabolism, biology.organism_classification, Subtelomere, Antigenic Variation, Glutathione, Protein Transport, Pyrimidines, Trypanosomiasis, African, Purines, Horizontal gene transfer, Carbohydrate Metabolism, Genome, Protozoan, Pseudogenes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3750ef339c57c8ea7b18444005230de3
https://ora.ox.ac.uk/objects/uuid:68a73f00-8613-4389-bf92-d156df3b8386

المؤلفون: Gaëlle Blandin, Christophe Béroud

المصدر: Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Medical education, Data collection, business.industry, Interoperability, Data security, Translational research, General Medicine, Disease, Patient recruitment, Clinical trial, Data quality, Oral Presentation, Medicine, Pharmacology (medical), business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3057ff01139f43f7aecf4ffce83b5658
https://doi.org/10.1186/1750-1172-10-s2-o29

المؤلفون: Virginie, Kergourlay, Gaëlle, Blandin, Véronique, Blanck, Nicolas, Lévy, Marc, Bartoli, Martin, Krahn

المصدر: Annals of Clinical and Translational Neurology

مصطلحات موضوعية: Letter

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d2ed27200627700d8ceb2fa8cd6db268
https://pubmed.ncbi.nlm.nih.gov/26273692

المؤلفون: David Salgado, Virginie Kergourlay, Nicolas Lévy, Christophe Béroud, Martin Krahn, Marc Bartoli, Gaëlle Blandin, Ghadi Rai

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Human Mutation
Human Mutation, Wiley, 2014, 35 (12), pp.1532-1541. ⟨10.1002/humu.22710⟩
Human Mutation, 2014, 35 (12), pp.1532-1541. ⟨10.1002/humu.22710⟩

مصطلحات موضوعية: DYSF, RNA Splicing, Exonic splicing enhancer, Muscle Proteins, Biology, medicine.disease_cause, Dysferlin, diagnostics tests, splicing, Genetics, medicine, Humans, splice, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Gene, Genetics (clinical), Mutation, Membrane Proteins, neuromuscular disease, Exon skipping, dysferlin, RNA splicing, biology.protein, Minigene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de3818d0f2416282946082e503b38584
https://hal.archives-ouvertes.fr/hal-01610021

المؤلفون: Montserrat Aguadé, Gaëlle Blandin, Myriam Gullaud, Julio Rozas

المصدر: Europe PubMed Central

مصطلحات موضوعية: Ribosomal Proteins, Linkage disequilibrium, Molecular Sequence Data, Population, Biology, Polymerase Chain Reaction, Linkage Disequilibrium, Nucleotide diversity, Evolution, Molecular, Sequence Homology, Nucleic Acid, Genetic variation, Genetics, Animals, Drosophila Proteins, Coding region, education, Gene, Recombination, Genetic, education.field_of_study, Polymorphism, Genetic, Base Sequence, Haplotype, Genetic Variation, DNA, Haplotypes, Insect Proteins, Drosophila, Recombination, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a551ae1e3c8098edf7560d7e6ae8487
https://doi.org/10.1093/genetics/158.3.1147

المؤلفون: Patrick Wincker, François Artiguenave, Bernard Dujon, Bertrand Llorente, Gaëlle Blandin, Alain Malpertuy

المصدر: FEBS Letters. 487:71-75

مصطلحات موضوعية: Retroelements, Intron, Saccharomyces cerevisiae, Biophysics, Retrotransposon, Paralogous Gene, Biology, DNA, Mitochondrial, DNA, Ribosomal, Synteny, Biochemistry, Genome, Fungal Proteins, Contig Mapping, Kluyveromyces, Open Reading Frames, Ascomycota, RNA, Transfer, Kluyveromyces marxianus, Structural Biology, Genetics, Genomic library, Codon, tRNA, Molecular Biology, Gene, Conserved Sequence, Comparative genomics, Base Sequence, Chromosome Mapping, Nuclear Proteins, Cell Biology, biology.organism_classification, Introns, Genetic Code, Multigene Family, Spliceosomes, Chromosomes, Fungal, Genome, Fungal

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a632965413c80333701dd74f042c3766
https://doi.org/10.1016/s0014-5793(00)02283-3

المؤلفون: Bernard Dujon, Arnaud Perrin, Micheline Wésolowski-Louvel, Emmanuel Talla, Elisabeth Bon, Monique Bolotin-Fukuhara, Claire Toffano-Nioche, Jacky de Montigny, Serge Casaregola, Odile Ozier-Kalogeropoulos, Michel Aigle, Gaëlle Blandin, Jean-Luc Souciet, Serge Potier, Cécile Neuvéglise, Fredj Tekaia, Christian Marck, Bertrand Llorente, Claude Gaillardin, Andrée Lépingle, Alain Malpertuy, Pascal Durrens

المساهمون: Laboratoire Bordelais de Recherche en Informatique (LaBRI), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB), Microbiologie et Génétique Moléculaire (MGM), Institut National de la Recherche Agronomique (INRA)-Institut National Agronomique Paris-Grignon (INA P-G)-Centre National de la Recherche Scientifique (CNRS), Génétique Moléculaire des Levures, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Unité de Microbiologie et génétique (UMG), Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Institut de génétique et microbiologie [Orsay] (IGM), Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), Génétique moléculaire, génomique, microbiologie (GMGM), Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Université Sciences et Technologies - Bordeaux 1-Université Bordeaux Segalen - Bordeaux 2, Université de Bordeaux (UB)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)

المصدر: FEBS Letters
FEBS Letters, Wiley, 2000, 487, pp.31--36. ⟨10.1016/S0014-5793(00)02275-4⟩
FEBS Letters, Wiley, 2000, 487, pp.31--36
FEBS Letters, Wiley, 2000, 487, pp.31-36. ⟨10.1016/S0014-5793(00)02275-4⟩
FEBS Letters, 2000, 487, pp.31--36. ⟨10.1016/S0014-5793(00)02275-4⟩
HAL

مصطلحات موضوعية: Transposable element, Sequence analysis, Annotation, Genes, Fungal, [INFO.INFO-OH]Computer Science [cs]/Other [cs.OH], Intron, Saccharomyces cerevisiae, Biophysics, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biochemistry, Genome, Open Reading Frames, Pseudogene, 03 medical and health sciences, Ascomycota, RNA, Transfer, Structural Biology, Genetics, Family, Frameshift, Molecular Biology, Gene, 030304 developmental biology, Sequence (medicine), 0303 health sciences, biology, 030302 biochemistry & molecular biology, Cell Biology, biology.organism_classification, Multigene Family, Transfer RNA, DNA, Intergenic, Chromosomes, Fungal, Genome, Fungal, Sequence Alignment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9c2433359adcd958c33255b7e847828
https://doi.org/10.1016/s0014-5793(00)02275-4

المؤلفون: Michel Aigle, Gaëlle Blandin, Patrick Wincker, Micheline Wésolowski-Louvel, Elisabeth Bon, Monique Bolotin-Fukuhara, Fredj Tekaia, Jean-Luc Souciet, Odile Ozier-Kalogeropoulos, Cécile Neuvéglise, Claude Gaillardin, Serge Potier, Philippe Brottier, Jean Weissenbach, William Saurin, François Artiguenave, Bernard Dujon, Claire Toffano-Nioche, Jacky de Montigny, Serge Casaregola, Alain Malpertuy, Pascal Durrens, Bertrand Llorente, Andrée Lépingle

المصدر: FEBS Letters. 487:101-112

مصطلحات موضوعية: Duplication, Saccharomyces cerevisiae, Biophysics, Translocation, Biology, Biochemistry, Genome, Deletion, Redundancy, Ascomycota, Structural Biology, Molecular evolution, Gene Duplication, Gene Order, Gene duplication, Genetics, Molecular Biology, Gene, Synteny, Chromosomal inversion, Inversion, Chromosome Mapping, Computational Biology, Chromosome, Genomics, Cell Biology, biology.organism_classification, Loss, Chromosomes, Fungal, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d249e17f4c1d364b4908cf0dcc08bc2b
https://doi.org/10.1016/s0014-5793(00)02289-4

المؤلفون: Jean Weissenbach, Patrick Wincker, Philippe Brottier, Monique Bolotin-Fukuhara, Micheline Wésolowski-Louvel, Michel Aigle, Cécile Neuvéglise, Fredj Tekaia, Claire Toffano-Nioche, Claude Gaillardin, Jacky de Montigny, Bernard Dujon, Odile Ozier-Kalogeropoulos, Gaëlle Blandin, Serge Casaregola, Serge Potier, Alain Malpertuy, Elisabeth Bon, Pascal Durrens, Bertrand Llorente, Andrée Lépingle, William Saurin, Jean-Luc Souciet, François Artiguenave

المصدر: FEBS Letters. 487:3-12

مصطلحات موضوعية: Genetics, Comparative genomics, Genome evolution, Sequence analysis, Biophysics, Cell Biology, Computational biology, Biology, Biochemistry, Genome, Structural Biology, Phylogenetics, Molecular evolution, Molecular Biology, Gene, Genome size

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f46ef45d74bad9d54c24cefb8ac81595
https://doi.org/10.1016/s0014-5793(00)02272-9

المؤلفون: Marc Bartoli, Jean-Baptiste Boucheteil, Sylvie Marchand, Azeddine Bentaïb, Nathalie Daniele, Karine Charton, Gaëlle Blandin, Evelyne Gicquel, Laetitia Barrault, Daniel Stockholm, Isabelle Richard

المساهمون: Laboratoire Analyse et Modélisation pour la Biologie et l'Environnement (LAMBE), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université de Cergy Pontoise (UCP), Université Paris-Seine-Université Paris-Seine-Université d'Évry-Val-d'Essonne (UEVE)-Centre National de la Recherche Scientifique (CNRS), This work was supported by the Association Française contre les Myopathies and the Jain Foundation., BMC, Ed., Université Paris-Seine-Université Paris-Seine-Université d'Évry-Val-d'Essonne (UEVE)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Skeletal Muscle
Skeletal Muscle, BioMed Central, 2013, 3 (1), pp.3. ⟨10.1186/2044-5040-3-3⟩
Skeletal Muscle, 2013, 3 (1), pp.3. ⟨10.1186/2044-5040-3-3⟩

مصطلحات موضوعية: musculoskeletal diseases, Candidate gene, Interactome, Muscular dystrophies, Two-hybrid screening, Systems biology, Computational biology, Telethonin, Bioinformatics, Dysferlin, 03 medical and health sciences, 0302 clinical medicine, Interaction network, Orthopedics and Sports Medicine, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Molecular Biology, 030304 developmental biology, Regulation of gene expression, 0303 health sciences, biology, Research, Cell Biology, Yeast-two hybrid, biology.protein, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3adb6f3a5dcca027109820b90354e007
https://doi.org/10.1186/2044-5040-3-3

المؤلفون: Nilah Monnier, Dalil Hamroun, Nicolas Wein, Karine Nguyen, Pierre Cau, Laura E. Rufibach, Christophe Béroud, Marc Bartoli, Jon Andoni Urtizberea, Nicolas Lévy, Gaëlle Blandin, Martin Krahn, Véronique Labelle, Brad Williams

المساهمون: Bartoli, Marc, Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre d'études et de recherche en informatique et communications (CEDRIC), Ecole Nationale Supérieure d'Informatique pour l'Industrie et l'Entreprise (ENSIIE)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)

المصدر: Human Mutation
Human Mutation, 2012, 33 (3), pp.E2317-E2331. ⟨10.1002/humu.22015⟩
Human Mutation, Wiley, 2012, 33 (3), pp.E2317-E2331. ⟨10.1002/humu.22015⟩

مصطلحات موضوعية: Dysferlinopathy, Muscle Proteins, Locus (genetics), computer.software_genre, Dysferlin, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, Genetics, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, Missense mutation, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, 10. No inequality, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Heterogeneous group, biology, Database, Computational Biology, Membrane Proteins, Interactive analysis, medicine.disease, Mutation, biology.protein, Genetic diagnosis, computer, Software, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::092d658f1a43cc4820316dc7c62df7e4
https://hal.science/hal-01610025

المؤلفون: Sylvie Marchand, Elisabeth Ehler, Gaëlle Blandin, Peter Hackman, Isabelle Richard, Anna Vihola, Astrid Milic, Bjarne Udd, Jaakko Sarparanta, Karine Charton

مصطلحات موضوعية: Sarcomeres, Duchenne muscular dystrophy, Immunoelectron microscopy, Amino Acid Motifs, Muscle Proteins, Biochemistry, Sarcomere, 03 medical and health sciences, 0302 clinical medicine, Two-Hybrid System Techniques, medicine, Humans, Connectin, Protein kinase A signaling, Muscular dystrophy, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, biology, Calpain, Skeletal muscle, Molecular Bases of Disease, Biological Transport, Cell Biology, medicine.disease, Cyclic AMP-Dependent Protein Kinases, Cell biology, medicine.anatomical_structure, Muscular Dystrophies, Limb-Girdle, Mutation, biology.protein, Titin, Protein Kinases, 030217 neurology & neurosurgery, Protein Binding, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e598219d71eeb55a68fcfba54a54d911
https://europepmc.org/articles/PMC2943315/

المؤلفون: John P. Overington, Appoliniare Djikeng, Paul McVeigh, Zemin Ning, Gaëlle Blandin, Steven L. Salzberg, Mohammed Sajid, Mario Stanke, Raymond J. Pierce, Richard M.R. Coulson, Mihaela Pertea, Arthur L. Delcher, Hirohisha Hirai, Yong-Hong Gu, Adhemar Zerlotini, Anna V. Protasio, Tim A. Day, Susan T. Mashiyama, Daniela R. Lacerda, Mostafa Zamanian, R. Alan Wilson, Luiza F. Andrade, Alasdair Ivens, Camila D. S. Macedo, Robin Houston, Julian Parkhill, Elodie Ghedin, Najib M. El-Sayed, Gary P. Dillon, Marie-Adèle Rajandream, Wenjie Wu, Daniella Castanheira Bartholomeu, Brian J. Haas, John Gamble, Tina Eyre, Philip T. LoVerde, Jane Rogers, Peter D. Ashton, Conor R. Caffrey, David L. Williams, Martin Aslett, Jennifer R. Wortman, Matthew Berriman, Ricardo DeMarco, Bissan Al-Lazikani, Gustavo C. Cerqueira, Guilherme Oliveira, Yuriko Hirai, Adrian Tivey, David A. Johnston, Owen White, Barclay G. Barrell, Michael A. Quail, Claire M. Fraser-Liggett, Avril Coghlan, Christiane Hertz-Fowler

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Nature

مصطلحات موضوعية: ESQUISTOSSOMOSE (TRATAMENTO), Systems biology, Molecular Sequence Data, 030231 tropical medicine, Lophotrochozoa, Genomics, Helminth genetics, Proteomics, Genome, Article, Host-Parasite Interactions, 03 medical and health sciences, 0302 clinical medicine, Animals, Genes, Helminth, 030304 developmental biology, Schistosoma, Genetics, Genome, Helminth, 0303 health sciences, Multidisciplinary, biology, Exons, Schistosoma mansoni, Physical Chromosome Mapping, biology.organism_classification, Biological Evolution, Introns, Schistosomiasis mansoni, 3. Good health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b14ac7333f2d52e966e36d91df446ea0

المؤلفون: Frédéric Bringaud, Mariano J. Levin, Elodie Ghedin, Elisabet Caler, Daniella C. Bartholomeu, Najib M. El-Sayed, Théo Baltz, Gaëlle Blandin

مصطلحات موضوعية: CIENCIAS MÉDICAS Y DE LA SALUD, Retroelements, Trypanosoma cruzi, Molecular Sequence Data, Trypanosoma brucei brucei, Inmunología, Retrotransposon, Trypanosoma brucei, Genome, LEISHMANIA MAJOR, Evolution, Molecular, Monophyly, NON-LTR RETROTRANSPOSON, Sequence Homology, Nucleic Acid, parasitic diseases, Animals, Frameshift Mutation, Molecular Biology, Conserved Sequence, Phylogeny, Leishmania major, Genetics, Base Sequence, Sequence Homology, Amino Acid, biology, Phylogenetic tree, INGI, Retroposon, DEGENERATE RETROELEMENT, Computational Biology, L1TC, TRYPANOSOMA CRUZI, biology.organism_classification, EVOLUTION, RETROPOSON, Medicina Básica, TRYPANOSOMA BRUCEI, Horizontal gene transfer, Nucleic Acid Conformation, Parasitology, Mobile genetic elements, Genome, Protozoan

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7281d1fd4e181fa547ed0535e3fe106c
https://www.ncbi.nlm.nih.gov/pubmed/16257065

المؤلفون: Gaëlle Blandin, Théo Baltz, Arthur L. Delcher, Najib M. El-Sayed, Elodie Ghedin, Daniella Castanheira Bartholomeu, Frédéric Bringaud

المصدر: Molecular biology and evolution. 23(2)

مصطلحات موضوعية: Genetics, Nuclear gene, biology, Contig, Retroelements, Trypanosoma cruzi, Retroposon, Retrotransposon, DNA, Protozoan, Molecular biology, Genome, Endonuclease, Mutagenesis, Insertional, Gene duplication, biology.protein, DNA-(Apurinic or Apyrimidinic Site) Lyase, Animals, AP site, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Sequence Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb654c2a8e79be141c749ada2dd194c8
https://pubmed.ncbi.nlm.nih.gov/16267142

المؤلفون: Elisabet Caler, Hubert Renauld, Ulrike Böhme, Lucio Marcello, Nicola G. Jones, J D Barry, Andrew F. Read, Liam J. Morrison, Mark Carrington, Christiane Hertz-Fowler, Katrina A. Lythgoe, Matthew Berriman, Najib M. El-Sayed, Gaëlle Blandin

المصدر: ResearcherID

مصطلحات موضوعية: Genetics, Whole genome sequencing, Genome, Genetic Variation, Locus (genetics), Antigens, Protozoan, Genome project, Biology, Biochemistry, Evolution, Molecular, Gene duplication, parasitic diseases, Antigenic variation, Animals, Trypanosomatina, Gene conversion, Gene, Variant Surface Glycoproteins, Trypanosoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ecab15dc7e9316908d60437665ca933
https://pubmed.ncbi.nlm.nih.gov/16246028

المؤلفون: Jonathan Crabtree, Todd Creasy, Atashi Anupama, Scott J. Westenberger, Jonathan H. Badger, Gustavo C. Cerqueira, Gautam Aggarwal, Appolinaire Djikeng, Jennifer R. Wortman, Elisabet Caler, Christiane Hertz-Fowler, Elizabeth A. Worthey, Daniel Nilsson, Najib M. El-Sayed, Kenneth Stuart, Matthew Berriman, Christopher R. Hauser, Peter J. Myler, Sarah K. Kummerfeld, Eithon Cadag, Joshua Shallom, Hubert Renauld, Jane M. Carlton, Brian J. Haas, U. Cecilia M. Alsmark, José B. Pereira-Leal, Jeremy Peterson, John E. Donelson, Alasdair Ivens, Björn Andersson, Neil Hall, T. Martin Embley, Arthur L. Delcher, Owen White, Jaideep P. Sundaram, Daniella Castanheira Bartholomeu, Elodie Ghedin, Frédéric Bringaud, Gaëlle Blandin, Christopher S. Peacock, Samuel V. Angiuoli, Steven L. Salzberg, Sara E. Melville, Anh Nhi Tran, Joana C. Silva

المصدر: Science (New York, N.Y.). 309(5733)

مصطلحات موضوعية: Gene Transfer, Horizontal, Proteome, Retroelements, Trypanosoma cruzi, Genes, Protozoan, Molecular Sequence Data, Trypanosoma brucei brucei, Protozoan Proteins, Genome, Synteny, Chromosomes, Evolution, Molecular, Gene mapping, Species Specificity, parasitic diseases, Gene family, Animals, Plastids, Symbiosis, Gene, Phylogeny, Genomic organization, Leishmania major, Genetics, Comparative genomics, Recombination, Genetic, Multidisciplinary, biology, Genomics, Telomere, biology.organism_classification, Biological Evolution, Multigene Family, Mutation, Trypanosoma, Genome, Protozoan

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76445a0b9852f93578a6136459ad3cd9
https://pubmed.ncbi.nlm.nih.gov/16020724

المؤلفون: Claire M. Fraser, Jinming Song, Samir Kaul, Sonya Taylor, Andrew Tait, Grace Pai, Shiguo Zhou, Elisabetta Ullu, Hanif Khalak, Steven L. Salzberg, Alison Tweedie, Tamara Feldblyum, Owen White, Nicolas Biteau, Frédéric Bringaud, David Wanless, Teresa Utterback, Anjana J. Simpson, Tanya Mason, Caroline S. Gerrard, Hean L. Koo, Mark Raymond Adams, C. Michael R. Turner, Christopher Larkin, Bernard B. Suh, David S. Schwartz, Susan Van Aken, Hong Zhao, Gaëlle Blandin, Lihua Hou, Linda Hannick, Elisabet Caler, Vanessa Leech, Sara E. Melville, Elodie Ghedin, Rong Qi, Annette MacLeod, Daniella Castanheira Bartholomeu, John E. Donelson, Brian J. Haas, Najib M. El-Sayed, Jeremy Peterson, Xiaoying Lin, Lowell Umayam

مصطلحات موضوعية: Genetics, Recombination, Genetic, biology, Pseudogene, Genes, Protozoan, Molecular Sequence Data, Trypanosoma brucei brucei, Chromosome, Chromosome Mapping, GC skew, Antigens, Protozoan, Articles, Sequence Analysis, DNA, Trypanosoma brucei, DNA, Protozoan, biology.organism_classification, Chromosomes, Gene Duplication, Gene duplication, Centromere, Animals, Gene conversion, Gene, Pseudogenes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ab2d57355dc6cae116208ed75bbe55a
https://europepmc.org/articles/PMC169936/