المؤلفون: Lamisse Mansour-Hendili, Abdelrazak Aissat, Bouchra Badaoui, Mehdi Sakka, Christine Gameiro, Valérie Ortonne, Orianne Wagner-Ballon, Serge Pissard, Véronique Picard, Khaldoun Ghazal, Michel Bahuau, Corinne Guitton, Ziad Mansour, Mylène Duplan, Arnaud Petit, Nathalie Costedoat-Chalumeau, Marc Michel, Pablo Bartolucci, Stéphane Moutereau, Benoît Funalot, Frédéric Galactéros

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-15 (2020)

مصطلحات موضوعية: Hemolysis, Red blood cell, Membrane, NGS, Anemia, Congenital, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01425-5; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/6f893e2c9cf14483b312306ba68dde60

المؤلفون: Alexandre Hinzpeter, Abdel Aissat, Elvira Sondo, Catherine Costa, Nicole Arous, Christine Gameiro, Natacha Martin, Agathe Tarze, Laurence Weiss, Alix de Becdelièvre, Bruno Costes, Michel Goossens, Luis J Galietta, Emmanuelle Girodon, Pascale Fanen

المصدر: PLoS Genetics, Vol 6, Iss 10 (2010)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2951375?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/c7ee5c74b4ae4089a975668a60796086

المؤلفون: Lamisse Mansour‐Hendili, Edouard Flamarion, Marc Michel, Caroline Morbieu, Christine Gameiro, Ivan Sloma, Bouchra Badaoui, Luc Darnige, Marion Camard, Ariane Lunati‐Rozie, Abdelrazak Aissat, Sihem Tarfi, Chloé Friedrich, Véronique Picard, Loïc Garçon, Nasséra Abermil, Sophie Kaltenbach, Isabelle Radford‐Weiss, Olivier Kosmider, Pascale Fanen, Pablo Bartolucci, Bertrand Godeau, Frédéric Galactéros, Benoît Funalot

المساهمون: Hôpital Henri Mondor, Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CHU Henri Mondor, Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre National de Référence Maladies auto-immunes Systémiques Rares [CHU Pitié-Salpêtrière], Service de Département de médecine interne et immunologie clinique [CHU Pitié-Salpêtrière] (DMIIC), CHU Pitié-Salpêtrière [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 Pitié-Salpêtrière [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), Génétique Moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor, Laboratoire d'Hématologie et d'Immunologie [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), GHU AP-HP Centre Université de Paris, Université Paris Cité (UPCité), Innovations thérapeutiques en hémostase (IThEM - U1140), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Biomécanique cellulaire et respiratoire (BCR), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Hôpital Cochin [AP-HP], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Laboratoire d'Hématologie [CHU Amiens], CHU Amiens-Picardie, CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire d'Hématologie et d'Immunologie [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), HEMATIM - Hématopoïèse et immunologie - UR UPJV 4666 (HEMATIM), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'immunologie et hématologies biologiques [CHU Saint-Antoine], Université Paris Descartes - Paris 5 (UPD5), CHU Necker - Enfants Malades [AP-HP], Université Sorbonne Paris Cité (USPC), IMRB - GEIC2O/'Genetic and Environmental Interactions in COPD, Cystic fibrosis and Other (rare) respiratory diseases' [Créteil] (U955 Inserm - UPEC), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), IMRB - 'Transfusion et Maladies du Globule Rouge' [Créteil] (U955 Inserm - UPEC), 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), Unité des Maladies Génétiques du Globule Rouge [CHU Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)

المصدر: American Journal of Hematology
American Journal of Hematology, Wiley, 2022, 97 (8), pp.E285-E288. ⟨10.1002/ajh.26593⟩

مصطلحات موضوعية: Ankyrins, Mutation, Humans, Spherocytosis, Hereditary, Hematology, Clonal Hematopoiesis, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Aged, Hematopoiesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e176ecf1394e71ff41f20d161078456
https://hal-u-picardie.archives-ouvertes.fr/hal-03723439

المؤلفون: Frédéric Galactéros, Catherine Garel, Arnaud Petit, Pablo Bartolucci, Benoît Funalot, Lydie Burglen, Virginie Saillour, Lamisse Mansour-Hendili, Abdelrazak Aissat, Leila Qebibo, Ariane Lunati, Christine Gameiro, Diane Doummar, Pascale Fanen, Hélène Lapillonne

المصدر: American Journal of Hematology. 96

مصطلحات موضوعية: Whole genome sequencing, medicine.diagnostic_test, business.industry, Anemia, Magnetic resonance imaging, Heterozygote advantage, Hematology, medicine.disease, Bioinformatics, Reticulocyte count, Mutation (genetic algorithm), medicine, Missense mutation, business, Congenital hemolytic anemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::86f0866de167141775d56a0b71c99eb8
https://doi.org/10.1002/ajh.26099

المؤلفون: Bouchra Badaoui, Gonzalo De Luna, Stéphane Moutereau, Clara Noizat, Pablo Bartolucci, Sihem Tarfi, Lamisse Mansour-Hendili, Véronique Picard, Benoît Funalot, Stéphane Egée, Amna Jebali, Caroline Makowski, Frédéric Galactéros, Frédéric Garban, Christine Gameiro, Claire Barro, Abdelrazak Aissat, Emmanuelle Faubert

المصدر: Transfusion Clinique et Biologique. 28:S45

مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry, Hematology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::215a0f438a7cfbaac1122de60f3e6cc2
https://doi.org/10.1016/j.tracli.2021.08.126

المؤلفون: Abdelrazak Aissat, Marc Michel, Corinne Guitton, Michel Bahuau, Benoît Funalot, Pablo Bartolucci, Arnaud Petit, Orianne Wagner-Ballon, Stéphane Moutereau, Véronique Picard, Serge Pissard, Christine Gameiro, Ziad Mansour, Valérie Ortonne, Khaldoun Ghazal, Mylène Duplan, Lamisse Mansour-Hendili, Bouchra Badaoui, Mehdi Sakka, Frédéric Galactéros, Nathalie Costedoat-Chalumeau

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-15 (2020)

مصطلحات موضوعية: 0301 basic medicine, Hemolytic anemia, Pediatrics, medicine.medical_specialty, Anemia, lcsh:Medicine, Spherocytosis, Hereditary, Anemia, Hemolytic, Congenital, Hemolysis, Hereditary spherocytosis, 03 medical and health sciences, Congenital, 0302 clinical medicine, Genetic variation, Exome Sequencing, medicine, Humans, Pharmacology (medical), Exome, Genetics (clinical), Exome sequencing, business.industry, Research, lcsh:R, Membrane, General Medicine, medicine.disease, Human genetics, Red blood cell, 030104 developmental biology, NGS, Mutation, business, Congenital hemolytic anemia, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be0b5220c1d8ce7298ce0d6064478b95
https://pubmed.ncbi.nlm.nih.gov/32641076

المؤلفون: Emmanuelle Girodon, Christine Gameiro, Dominique Hubert, Daniel Dusser, Isabelle Honoré, R. Kanaan, Thierry Bienvenu, Florence Houriez, Brigitte Martinez, Pierre-Régis Burgel, Natacha Gaitch, Jeanne Chapron

المصدر: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]. 16(4)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Cystic Fibrosis, Genotype, Endocrinology, Diabetes and Metabolism, Cystic Fibrosis Transmembrane Conductance Regulator, Cystic fibrosis, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Internal medicine, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Prospective Studies, Age of Onset, Gene, Pancreatic duct, Hepatology, business.industry, Incidence, Pancreatic Ducts, Middle Aged, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Pancreatitis, Mutation, Acute pancreatitis, 030211 gastroenterology & hepatology, Female, Complication, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e63dc4d8dad21ffb62991685a09265d9
https://pubmed.ncbi.nlm.nih.gov/27086061

المؤلفون: Annick LeFloch, Christine Gameiro, Jean-Marie Jouannic, Emmanuelle Girodon, J.P. Martin, Rachel Médina, Corinne Alberti, Irina Giurgea, Catherine Costa, Alix de Becdelièvre, Françoise Muller, Michel Goossens, Brigitte Boissier

المصدر: Human Genetics. 129:387-396

مصطلحات موضوعية: Male, medicine.medical_specialty, Cystic Fibrosis, Genotype, DNA Mutational Analysis, Cystic Fibrosis Transmembrane Conductance Regulator, Context (language use), Gene mutation, Risk Assessment, Gastroenterology, Cystic fibrosis, Ultrasonography, Prenatal, Gene Frequency, Pregnancy, Risk Factors, Internal medicine, Genetics, medicine, Echogenic Bowel, Humans, Genetics (clinical), biology, Gallbladder, Infant, Newborn, medicine.disease, Human genetics, Cystic fibrosis transmembrane conductance regulator, Phenotype, medicine.anatomical_structure, Mutation, Mutation (genetic algorithm), biology.protein, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3def9037c4483c19f6233659b4268f4
https://doi.org/10.1007/s00439-010-0933-1

المؤلفون: Christine Gameiro, Marie-Hélène Delfau-Larue, Corinne Haioun, Christiane Copie-Bergman, Michael Levy, Francois Hemery, M.T. Chaumette, Karen Leroy, Jean-Charles Delchier, Philippe Gaulard, Antoine Charachon

المصدر: Journal of Clinical Oncology. 23:5061-5066

مصطلحات موضوعية: Adult, Male, Cancer Research, medicine.medical_specialty, Pathology, medicine.medical_treatment, Polymerase Chain Reaction, Gastroenterology, Translocation, Genetic, Helicobacter Infections, Recurrence, Stomach Neoplasms, Internal medicine, medicine, Humans, Helicobacter, Antineoplastic Agents, Alkylating, B cell, Aged, Chemotherapy, biology, business.industry, Chromosomes, Human, Pair 11, Gastric lymphoma, Stomach, MALT lymphoma, Lymphoma, B-Cell, Marginal Zone, Middle Aged, Prognosis, medicine.disease, biology.organism_classification, Lymphoma, Treatment Outcome, medicine.anatomical_structure, Oncology, Female, Chromosomes, Human, Pair 18, business, Mucosa-associated lymphoid tissue, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b10e4d09e3d1c00f4eabbedb15195fc
https://doi.org/10.1200/jco.2005.05.660

المؤلفون: Alix de Becdelièvre, Catherine Costa, F. Brémont, Pascale Fanen, Aurélie Lorot, Bruno Costes, Eric Bieth, Michel Goossens, Virginie Prulière-Escabasse, Abdel Aissat, Emmanuelle Girodon, Alexandre Hinzpeter, Christine Gameiro, Natacha Martin

المساهمون: 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), Service Génétique Médicale [CHU Toulouse], Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Génétique Moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor, Service Pneumologie et allergologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Chirurgie de la Face et du Cou, Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Centre Hospitalier Intercommunal de Créteil (CHIC), This work was supported by the French CF Foundation ' Vaincre La Mucoviscidose '., Guellaen, Georges, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Service de Génétique [Purpan], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Pédiatrie - Pneumologie, Allergologie, Hôpital des Enfants, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse]

المصدر: Human Mutation
Human Mutation, 2014, 35 (7), pp.805-8. ⟨10.1002/humu.22548⟩
Human Mutation, Wiley, 2014, 35 (7), pp.805-8. ⟨10.1002/humu.22548⟩

مصطلحات موضوعية: Male, DNA Mutational Analysis, Cystic Fibrosis Transmembrane Conductance Regulator, Biology, medicine.disease_cause, Cystic fibrosis, 03 medical and health sciences, Exon, 0302 clinical medicine, Nasal Polyps, Rapid amplification of cDNA ends, Gene Order, Genetics, medicine, RNA Isoforms, nasal polyposis, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, RNA, Messenger, CFTR, Child, Genetics (clinical), 030304 developmental biology, alternative transcripts, 0303 health sciences, Messenger RNA, Mutation, Promoter, medicine.disease, Molecular biology, Cystic fibrosis transmembrane conductance regulator, Exon skipping, Pedigree, Alternative Splicing, 030220 oncology & carcinogenesis, biology.protein, 5' Untranslated Regions, transcription regulation

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9925c5f42221f601d5c5a3ad4d122e09
https://www.hal.inserm.fr/inserm-01044414/document