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المؤلفون: Gaëlle Richard, Jian-Min Chen, Yann Fichou, Isabelle Callebaut, Chandran Ka, Léonie Vigneron, Gérald Le Gac, Claude Férec, Marlène Le Tertre, Loann Raud
المصدر: Transfusion. 61:2468-2476
مصطلحات موضوعية: Models, Molecular, Genetics, Rh-Hr Blood-Group System, RNA Splicing, In silico, Immunology, Mutation, Missense, Gene Expression, Hematology, 030204 cardiovascular system & hematology, Biology, Polymorphism, Single Nucleotide, Phenotype, 03 medical and health sciences, Exon, 0302 clinical medicine, Protein destabilization, RNA splicing, Humans, Immunology and Allergy, Missense mutation, K562 Cells, Gene, 030215 immunology, Minigene
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المؤلفون: Pornlada Nuchnoi, Vishuda Laengsri, Jairak Thongbut, Chartchalerm I-Na-Ayudhya, Yann Fichou, Claude Férec, Charuporn Promwong, Loann Raud
المصدر: Transfusion. 61:931-938
مصطلحات موضوعية: Genotype, Immunology, Blood Donors, 030204 cardiovascular system & hematology, Biology, Serology, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Multiplex polymerase chain reaction, Prevalence, Humans, Immunology and Allergy, Serologic Tests, Typing, Allele, Gene, Allele frequency, Genotyping, Alleles, Genetics, Rh-Hr Blood-Group System, Sequence Analysis, DNA, Hematology, Thailand, Molecular diagnostics, Phenotype, Multiplex Polymerase Chain Reaction, 030215 immunology
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المؤلفون: Hugo Lemoine, Loann Raud, François Foulquier, John A. Sayer, Baptiste Lambert, Eric Olinger, Siriane Lefèvre, Bertrand Knebelmann, Peter C. Harris, Pascal Trouvé, Aurore Desprès, Gabrielle Duneau, Marie Matignon, Anais Poyet, Noémie Jourde-Chiche, Dominique Guerrot, Sandrine Lemoine, Guillaume Seret, Miguel Barroso-Gil, Coralie Bingham, Rodney Gilbert, Yannick Le Meur, Marie-Pierre Audrézet, Emilie Cornec-Le Gall
المساهمون: CarMeN, laboratoire, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-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), Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Newcastle University [Newcastle], CH de Lorient, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), Mayo Clinic [Rochester], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Association des Urémiques de Bretagne [Lorient] (AUB), Service de néphrologie [CHU Henri Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Henri Mondor, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Association Régionale d'Aide aux Urémiques du Centre Ouest [Bourges] (ARAUCO), Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Service de Néphrologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), Association ECHO [Expansion des Centres d’Hémodialyse de l’Ouest], Royal Devon and Exeter NHS Foundation Trust [UK], University of Southampton, CHRU Brest - Service de Nephrologie (CHU - BREST - Nephrologie), 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), LabEX IGO Immunothérapie Grand Ouest, Nantes Université (Nantes Univ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Henri Mondor [Créteil]
المصدر: Am J Hum Genet
American Journal of Human Genetics
American Journal of Human Genetics, 2022, 109 (8), pp.1484-1499. ⟨10.1016/j.ajhg.2022.06.013⟩مصطلحات موضوعية: N-linked glycosylation, Cysts, [SDV]Life Sciences [q-bio], Kidney, Polycystic Kidney, Autosomal Dominant, Fibrosis, Article, autosomal dominant tubulo-interstitial kidney disease, renal insufficiency, [SDV] Life Sciences [q-bio], autosomal-dominant polycystic kidney disease, ALG5, Mutation, Exome Sequencing, Genetics, Humans, Genetics (clinical)
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53a17f107e62e2554bb6f7ef3b40dd67
https://pubmed.ncbi.nlm.nih.gov/35896117 -
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المؤلفون: Loann Raud, Pornlada Nuchnoi, Claude Férec, Charuporn Promwong, Yann Fichou, Jairak Thongbut
المساهمون: Mahidol University [Bangkok], Thai Red Cross Society, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Morvan - CHRU de Brest (CHU - BREST ), PODEUR, Sophie
المصدر: Transfusion Medicine and Hemotherapy
Transfusion Medicine and Hemotherapy, Karger, 2020, 47 (1), pp.54-60. ⟨10.1159/000499087⟩مصطلحات موضوعية: medicine.medical_specialty, Genotype, [SDV]Life Sciences [q-bio], Population, RHD variants, 030204 cardiovascular system & hematology, Biology, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Molecular genetics, Multiplex polymerase chain reaction, medicine, Immunology and Allergy, Rh, Allele, education, Gene, Sanger sequencing, Genetics, education.field_of_study, Hematology, [SDV] Life Sciences [q-bio], Blood group, Phenotype, symbols, Rh blood group system, Research Article, 030215 immunology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::526af9e34d62e40a393a36f57c492ff0
https://doi.org/10.1159/000499087 -
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المؤلفون: Yann Fichou, Gérald Le Gac, Chandran Ka, Loann Raud, Isabelle Gourlaouen, Isabelle Callebaut, Claude Férec
المصدر: Transfusion. 59:1367-1375
مصطلحات موضوعية: Genetics, Silent mutation, Mutation, Immunology, Hematology, 030204 cardiovascular system & hematology, Biology, medicine.disease_cause, Phenotype, 03 medical and health sciences, Exon, 0302 clinical medicine, RNA splicing, medicine, Immunology and Allergy, splice, Gene, 030215 immunology, Minigene
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المؤلفون: Matthew Mort, Gérald Le Gac, Jin-Huan Lin, Shun-Jiang Deng, Chandran Ka, David N. Cooper, Wen-Bin Zou, Yann Fichou, Arnaud Boulling, Emmanuelle Masson, Jian-Min Chen, Isabelle Berlivet, Matthew J. Hayden, Zhuan Liao, Xin-Ying Tang, Loann Raud, Raphaël Leman, Marlène Le Tertre, Zhao-Shen Li, Claude Férec, Claude Houdayer
المساهمون: INSERM U1078, Université de Brest (UBO), Etablissement Français du Sang Bretagne, EFS, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute of Medical Genetics, College of Medicine, Cardiff University, Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Institute of Medical Genetics, Cardiff University-School of Medicine, Shanghai Institute of Pancreatic Diseases, Shanghai, China, Shanghai Institute of Pancreatic Diseases, BOULLING, Arnaud, EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Second Military Medical University [Shanghai], Shanghai Institute of Pancreatic Diseases [Shanghai, China], Hôpital Morvan - CHRU de Brest (CHU - BREST ), Laboratoire d'Excellence : Biogenèse et pathologies du globule rouge (Labex Gr-Ex), Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)
المصدر: Human Mutation
Human Mutation, Wiley, 2019, 40 (10), pp.1856-1873. ⟨10.1002/humu.23821⟩مصطلحات موضوعية: full-length gene splicing assay, [SDV]Life Sciences [q-bio], Gene splicing, human inherited disease, noncanonical splice donor site, canonical 5′ splice site, Biology, genotype and phenotype relationship, 03 medical and health sciences, Human disease, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genetics, Humans, Position-Specific Scoring Matrices, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Nucleotide Motifs, Clinical phenotype, Gene, Cells, Cultured, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, Base Sequence, Gene Expression Profiling, 030305 genetics & heredity, Wild type, Computational Biology, Genetic Variation, High-Throughput Nucleotide Sequencing, Exons, Sequence Analysis, DNA, Introns, [SDV] Life Sciences [q-bio], Alternative Splicing, Gene Expression Regulation, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Cell culture, RNA splicing, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], RNA Splice Sites, Databases, Nucleic Acid, human gene mutation database, Small nuclear RNA
وصف الملف: application/pdf
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المؤلفون: Matthew J. Hayden, Shun-Jiang Deng, Claude Férec, Gérald Le Gac, Xin-Ying Tang, Zhuan Liao, Loann Raud, Isabelle Berlivet, David N. Cooper, Marlène Le Tertre, Chandran Ka, Wen-Bin Zou, Emmanuelle Masson, Yann Fichou, Jin-Huan Lin, Zhao-Shen Li, Matthew Mort, Arnaud Boulling, Jian-Min Chen
مصطلحات موضوعية: Genetics, Cell culture, RNA splicing, Wild type, Intron, Functional impact, Allele, Biology, Gene, Small nuclear RNA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dddfcc21f0a28f7b2f9f239dbab665a
https://doi.org/10.1101/479493 -
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المؤلفون: Loann, Raud, Chandran, Ka, Isabelle, Gourlaouen, Isabelle, Callebaut, Claude, Férec, Gérald, Le Gac, Yann, Fichou
المصدر: Transfusion. 59(4)
مصطلحات موضوعية: Rh-Hr Blood-Group System, RNA Splicing, Mutation, Missense, Humans, Exons, RNA Splice Sites, Models, Biological, Silent Mutation, Cell Line
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المؤلفون: Gérald Le Gac, Chandran Ka, Isabelle Berlivet, Kévin Uguen, Loann Raud, Yann Fichou, Claude Férec, Gaëlle Richard, Jian-Min Chen, Marlène Le Tertre, Isabelle Gourlaouen
المصدر: Blood Cells, Molecules, and Diseases. 87:102527
مصطلحات موضوعية: Ferroportin, Mutation, Missense, Polymorphism, Single Nucleotide, Exon, medicine, Humans, Missense mutation, Cation Transport Proteins, Molecular Biology, Gene, Hemochromatosis, Genetics, biology, Genetic heterogeneity, Alternative splicing, Exons, Genomics, Hep G2 Cells, Cell Biology, Hematology, medicine.disease, Alternative Splicing, RNA splicing, biology.protein, Molecular Medicine
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المؤلفون: Yann Fichou, Claude Férec, Loann Raud
المصدر: Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine. 24(4)
مصطلحات موضوعية: Clinical Biochemistry, Mutation, Missense, 030204 cardiovascular system & hematology, Biology, Protein Engineering, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Genotype, Protein Interaction Mapping, medicine, Humans, Point Mutation, Protein Isoforms, Genetic variability, Gene, Genetic Association Studies, Genetics, Membrane Glycoproteins, Rh-Hr Blood-Group System, Biochemistry (medical), Genetic Variation, Hematology, Blood Proteins, Phenotype, Red blood cell, medicine.anatomical_structure, Gene Expression Regulation, RHAG, biology.protein, Blood Group Antigens, Rh blood group system, 030215 immunology, Minigene
