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: Pascale de Lonlay, Asmaa Mamoune, Yamina Hamel, Michel Bahuau, Sabrina Vergnaud, Moniqu Piraud, Lætitia Lallemand, Marie-Ange Nguyen More, Mai Thao Vio, Norma Beatriz Romero

المصدر: Нервно-мышечные болезни, Vol 5, Iss 1, Pp 10-18 (2015)

مصطلحات موضوعية: rhabdomyolysis, fever, temperature-dependent rhabdomyolysis, inherited rhabdomyolysis, environment, thermolability, aldolase a, myopathy, myoglobinuria, pro-inflammatory mediators, hemolytic anemia, myositis, atp, statins, lipid droplets, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/105; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/3a3e278c74614a27b7b77a74db4a0fbc

المؤلفون: Asmaa Mamoune, Michel Bahuau, Yamina Hamel, Valérie Serre, Michele Pelosi, Florence Habarou, Marie-Ange Nguyen Morel, Bertrand Boisson, Sabrina Vergnaud, Mai Thao Viou, Luc Nonnenmacher, Monique Piraud, Patrick Nusbaum, Joseph Vamecq, Norma Romero, Chris Ottolenghi, Jean-Laurent Casanova, Pascale de Lonlay

المصدر: PLoS Genetics, Vol 10, Iss 11, p e1004711 (2014)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4230727?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/3473475ac66b4e78b0e843eda9d685cc

المؤلفون: Claude Préhu, Kamran Moradkhani, Jean Riou, Michel Bahuau, Pierre Launay, Natacha Martin, Henri Wajcman, Michel Goossens, Frédéric Galactéros

المصدر: Haematologica, Vol 94, Iss 11 (2009)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/5418; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/7eea157a00a7481ab94494d556b81e43

المؤلفون: Pascale, De, Asmaa, Mamoune, Yamina, Hamel, Michel, Bahuau, Sabrina, Vergnaud, Monique, Piraud, Lætitia, Lallemand, Marie-ange, Nguyen, Mai, Thao, Norma, Beatriz

مصطلحات موضوعية: РАБДОМИОЛИЗ,ЛИХОРАДКА,ТЕРМОЧУВСТВИТЕЛЬНЫЙ РАБДОМИОЛИЗ,НАСЛЕДСТВЕННЫЙ РАБДОМИОЛИЗ,ОКРУЖАЮЩАЯ СРЕДА,ТЕРМОЛАБИЛЬНОСТЬ,АЛЬДОЛАЗА А,МИОПАТИЯ,МИОГЛОБИНУРИЯ,ПРОВОСПАЛИТЕЛЬНЫЕ МЕДИАТОРЫ,ГЕМОЛИТИЧЕСКАЯ АНЕМИЯ,МИОЗИТ,АДЕНОЗИНТРИФОСФАТ,СТАТИНЫ,ЛИПИДНЫЕ КАПЛИ,ДЕФЕКТ ß ОКИСЛЕНИЯ ЖИРНЫХ КИСЛОТ,ВРОЖДЕННЫЙ ДЕФЕКТ ГЛИКОГЕНОЛИЗА/ГЛИКОЛИЗА,МУТАЦИИ LPIN1,ДЕФЕКТ AMACR

وصف الملف: text/html

الاتاحة: http://cyberleninka.ru/article/n/ostryy-rabdomioliz
http://cyberleninka.ru/article_covers/15823696.png

المؤلفون: Vincent Goussot, Véronica Cusin, Flavie Boulouard, Nancy Uhrhammer, Jacques Mauillon, Sophie Lejeune, Stéphanie Vasseur, Michel Bahuau, Stéphanie Baert-Desurmont, Emmanuelle Barouk Simonet, Lisa Golmard, Marion Dhooge, Camille Tlemsani, Sandrine Manase, Thierry Frebourg, Gwendoline Lienard, Marie-Pascale Beaumont, Edwige Kasper, Marie-Pierre Buisine, Gaëlle Bougeard, Virginie Bubien, Nadim Hamzaoui, Jean-Marc Rey, Stéphane Pinson, Florence Coulet, Claude Houdayer, Elodie Lacaze, Christine Toulas

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f572fec906a93582c2637fd3a21b1b10
https://doi.org/10.1111/cge.13925/v2/response1

المؤلفون: Thierry Frebourg, Gwendoline Lienard, Stéphanie Baert-Desurmont, Camille Tlemsani, Nadim Hamzaoui, Lisa Golmard, Michel Bahuau, Gaëlle Bougeard, Edwige Kasper, Vincent Goussot, Stéphane Pinson, Elodie Lacaze, Marie-Pascale Beaumont, Emmanuelle Barouk Simonet, Sandrine Manase, Christine Toulas, Sophie Lejeune, Nancy Uhrhammer, Flavie Boulouard, Jacques Mauillon, Véronica Cusin, Stéphanie Vasseur, Marion Dhooge, Marie-Pierre Buisine, Claude Houdayer, Virginie Bubien, Florence Coulet, Jean-Marc Rey

المصدر: Clinical geneticsREFERENCES. 99(5)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, Male, medicine.medical_specialty, Heterozygote, Colorectal cancer, Colonoscopy, Breast Neoplasms, 030105 genetics & heredity, 03 medical and health sciences, Deoxyribonuclease (Pyrimidine Dimer), Breast cancer, MUTYH, Neoplastic Syndromes, Hereditary, Internal medicine, Genetics, medicine, Biomarkers, Tumor, Humans, Basal cell carcinoma, Genetics (clinical), Germ-Line Mutation, Aged, Ovarian Neoplasms, medicine.diagnostic_test, business.industry, Reverse Transcriptase Polymerase Chain Reaction, Melanoma, Cancer, Middle Aged, medicine.disease, Pedigree, 030104 developmental biology, Adenomatous Polyposis Coli, Female, Sarcoma, business, Colorectal Neoplasms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::955dcc3e9efb93f91efa2ff0000996b5
https://pubmed.ncbi.nlm.nih.gov/33454955

المؤلفون: Claude Préhu, Kamran Moradkhani, Jean Riou, Michel Bahuau, Pierre Launay, Natacha Martin, Henri Wajcman, Michel Goossens, Frédéric Galactéros

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.haematologica.org/content/early/2009/10/08/haematol.2009.012971.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.587.4168; http://www.haematologica.org/content/early/2009/10/08/haematol.2009.012971.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.587.4168
http://www.haematologica.org/content/early/2009/10/08/haematol.2009.012971.full.pdf

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: Ingrid Laurendeau, Michel Bahuau, Nicolas Vodovar, Claire Larramendy, Martine Olivi, Ivan Bieche, Michel Vidaud, Dominique Vidaud

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://intl.clinchem.org/content/45/7/982.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.581.8375; http://intl.clinchem.org/content/45/7/982.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.581.8375
http://intl.clinchem.org/content/45/7/982.full.pdf

المؤلفون: Lydie Da Costa, Fanny Fouyssac, Michel Bahuau, Lucille Altounian, Bruno Leheup, Philippe Jonveaux, Odile Fenneteau, Jean-François Lesesve, Julien Perrin

المصدر: Annales de biologie clinique. 73:587-590

مصطلحات موضوعية: Male, Anemia, Hemolytic, medicine.medical_specialty, Pyrimidine, Pancytopenia, business.industry, Erythrocytes, Abnormal, General Medicine, Young Adult, chemistry.chemical_compound, Endocrinology, Pyrimidine-5'-Nucleotidase Deficiency, chemistry, Internal medicine, Nucleotidase, Humans, Medicine, business, 5'-Nucleotidase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81b94da0a401018fdb9784c30e392ef3
https://doi.org/10.1684/abc.2015.1078

المؤلفون: Claude Préhu, Kamran Moradkhani, Michel Bahuau, Catherine Bimet, Frédéric Galactéros, Henri Wajcman, Natacha Martin

المصدر: Blood Cells, Molecules, and Diseases. 43:226-229

مصطلحات موضوعية: Genetics, chemistry.chemical_classification, Mutation, Mechanism (biology), Cell Biology, Hematology, Biology, medicine.disease_cause, Pathophysiology, Enzyme, Protein structure, chemistry, medicine, Molecular Medicine, Structured model, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c0cee0ade752768b9b07035fb3876b10
https://doi.org/10.1016/j.bcmd.2009.05.007

المؤلفون: Agnès Nelva, Christine Francannet, Sylvaine Cordier, Elisabeth Robert-Gnansia, Claire Perret, Christine Herman, Marie-Paule Vazquez, David M. Iovannisci, Michel Bahuau, Cécile Chevrier, Edward J. Lammer

المساهمون: Groupe d'Etude de la Reproduction Chez l'Homme et les Mammiferes (GERHM), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique épidémiologique et moléculaire des pathologies cardiovasculaires, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Children's Hospital Oakland Research, Registre des Malformations Rhône-Alpes, REMERA, Centre d'Etude des Malformations Congénitales (CEMC), Centre d'Etude des Malformations Congénitales, Unité de Génétique Médicale, Hôtel-Dieu-CHU Clermont-Ferrand-Université d'Auvergne - Clermont-Ferrand I (UdA), Children's Hospital Oakland Research Institute, hildren's Hospital Oakland Research Institute, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Biochimie et de Biologie Moléculaire [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de stomatologie et chirurgie maxillo-faciale [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Forgeron, Christine

المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2008, 146A (18), pp.2396-406. ⟨10.1002/ajmg.a.32505⟩
American Journal of Medical Genetics Part A, Wiley, 2008, 146A (18), pp.2396-406. ⟨10.1002/ajmg.a.32505⟩

مصطلحات موضوعية: Male, Passive smoking, Physiology, MESH: Logistic Models, [SDV.GEN] Life Sciences [q-bio]/Genetics, medicine.disease_cause, Tobacco smoke, MESH: Genotype, MESH: Pregnancy, Pregnancy, Risk Factors, MESH: Risk Factors, Smoke, Medicine, MESH: Maternal Exposure, MESH: Tobacco, Genetics (clinical), Glutathione Transferase, Genetics, 0303 health sciences, education.field_of_study, Smoking, 030305 genetics & heredity, MESH: Genetic Predisposition to Disease, MESH: Smoke, MESH: Case-Control Studies, MESH: Infant, 3. Good health, Cleft Palate, Maternal Exposure, Female, France, MESH: Pregnancy Trimester, First, MESH: Smoking, Genotype, Cleft Lip, Population, Genetic determinism, 03 medical and health sciences, Tobacco, MESH: Polymorphism, Genetic, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, Genetic Predisposition to Disease, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Allele, Risk factor, education, [SDV.BDLR] Life Sciences [q-bio]/Reproductive Biology, 030304 developmental biology, MESH: Glutathione Transferase, [SDV.GEN]Life Sciences [q-bio]/Genetics, Polymorphism, Genetic, MESH: Humans, business.industry, MESH: Cleft Lip, Infant, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, medicine.disease, MESH: Male, MESH: France, Pregnancy Trimester, First, Logistic Models, MESH: Cleft Palate, Case-Control Studies, Relative risk, business, MESH: Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4ae8b82aae094f5db3a8f69727f87e0
https://doi.org/10.1002/ajmg.a.32505

المؤلفون: Laurence Jonard, Christine Gicquel, Marie-Paule Vazquez, Eamonn R. Maher, Marie-France Portnoï, R. Frank Kooy, Frédéric Lirussi, Rémy Couderc, Birgitta Winnepenninckx, David R. FitzPatrick, Michel Bahuau, Damien Sanlaville, V. Gaston

المصدر: American journal of medical genetics : part A

مصطلحات موضوعية: Male, Genetics, Monosomy, Beckwith-Wiedemann Syndrome, Infant, Newborn, Beckwith–Wiedemann syndrome, Locus (genetics), Biology, Physical Chromosome Mapping, medicine.disease, Genetic imbalance, Haplotypes, Macroglossia, Locus heterogeneity, medicine, Humans, Female, Imprinting (psychology), medicine.symptom, Chromosomes, Human, Pair 18, Haploinsufficiency, In Situ Hybridization, Fluorescence, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a4e2a1ef4b806ed2a18579f3209fe22
https://doi.org/10.1002/ajmg.a.31768

المؤلفون: Sylvaine Cordier, Huiping Zhu, Elisabeth Robert-Gnansia, Christine Francannet, Agnès Nelva, Michel Bahuau, Richard H. Finnell, Cécile Chevrier, Claire Perret, Christine Herman

المساهمون: Groupe d'Etude de la Reproduction Chez l'Homme et les Mammiferes (GERHM), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique épidémiologique et moléculaire des pathologies cardiovasculaires, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Biochimie et de Biologie Moléculaire [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Registre des Malformations Rhône-Alpes, REMERA, Centre d'Etude des Malformations Congénitales (CEMC), Centre d'Etude des Malformations Congénitales, Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2007, 143 (3), pp.248-57. ⟨10.1002/ajmg.a.31462⟩
American Journal of Medical Genetics Part A, 2007, 143 (3), pp.248-57. ⟨10.1002/ajmg.a.31462⟩

مصطلحات موضوعية: cleft lip, MESH: Genotype, MESH: Pregnancy, Pregnancy, Polymorphism (computer science), Genotype, Medicine, Genetics (clinical), cleft palate, 0303 health sciences, biology, 030305 genetics & heredity, vitamin, MESH: Genetic Predisposition to Disease, MESH: Methylenetetrahydrofolate Reductase (NADPH2), MESH: Case-Control Studies, 3. Good health, MESH: Maternal Nutritional Physiological Phenomena, nutrition, Female, medicine.medical_specialty, MESH: Mutation, Offspring, folate, MESH: Folic Acid, folic acid, 03 medical and health sciences, MESH: Diet, Internal medicine, MESH: Polymorphism, Genetic, Genetics, Humans, Genetic Predisposition to Disease, Risk factor, Methylenetetrahydrofolate Reductase (NADPH2), 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, Polymorphism, Genetic, MESH: Humans, business.industry, MESH: Cleft Lip, Case-control study, Maternal Nutritional Physiological Phenomena, Odds ratio, medicine.disease, methylenetetrahydrofolate reductase, Diet, Endocrinology, MESH: Cleft Palate, Case-Control Studies, Methylenetetrahydrofolate reductase, Mutation, biology.protein, business, MESH: Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c047217c50491344bd1bd3f0db1ba7a9
https://doi.org/10.1002/ajmg.a.31462

المؤلفون: Christine Francannet, Christine Herman, Agnès Nelva, Cécile Chevrier, Brigitte Dananché, Elisabeth Robert-Gnansia, Michel Bahuau, Sylvaine Cordier

المساهمون: Groupe d'Etude de la Reproduction Chez l'Homme et les Mammiferes (GERHM), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Registre des Malformations Rhône-Alpes, REMERA, Centre d'Etude des Malformations Congénitales (CEMC), Centre d'Etude des Malformations Congénitales, Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Fondation Recherche Médicale, Inserm (Program Interactions entre les déterminants de la Santé), French Ministry of Environment (Program Recherche en Environment-Santé), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Biochimie et de Biologie Moléculaire [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: Occupational and Environmental Medicine
Occupational and Environmental Medicine, 2006, 63 (9), pp.617-23. ⟨10.1136/oem.2005.024067⟩
Occupational and Environmental Medicine, BMJ Publishing Group, 2006, 63 (9), pp.617-23. ⟨10.1136/oem.2005.024067⟩

مصطلحات موضوعية: Male, MESH: Solvents, MESH: Occupational Exposure, MESH: Pregnancy, 0302 clinical medicine, Pregnancy, Risk Factors, MESH: Risk Factors, Odds Ratio, 030212 general & internal medicine, MESH: Maternal Exposure, Obstetrics, MESH: Case-Control Studies, MESH: Infant, 030210 environmental & occupational health, 3. Good health, Cleft Palate, Glycol ethers, Maternal Exposure, Gestation, Female, Original Article, France, MESH: Pregnancy Trimester, First, Adult, medicine.medical_specialty, Cleft Lip, Occupational medicine, 03 medical and health sciences, Occupational Exposure, medicine, Humans, Industry, Risk factor, [SDV.EE.SANT]Life Sciences [q-bio]/Ecology, environment/Health, MESH: Humans, business.industry, MESH: Cleft Lip, Public Health, Environmental and Occupational Health, Case-control study, Infant, MESH: Adult, Odds ratio, medicine.disease, MESH: Odds Ratio, MESH: Male, Teratology, Surgery, MESH: France, Pregnancy Trimester, First, MESH: Cleft Palate, Case-Control Studies, Solvents, MESH: Industry, business, MESH: Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2667fdfab400ed49cfe1fbacf4e352ef
https://doi.org/10.1136/oem.2005.024067

المؤلفون: Y Wüst, Matthias Griese, F Stanzel, Thomas Nicolai, Michel Bahuau, D Köhler, B Bewig, Philipp Latzin, M Tredano, J de Blic

المصدر: Thorax. 60:39-44

مصطلحات موضوعية: Adult, Pulmonary and Respiratory Medicine, Paediatric Lung Disease, medicine.medical_specialty, Disease, Pulmonary Alveolar Proteinosis, Gastroenterology, Pathogenesis, Internal medicine, medicine, Humans, Age of Onset, Child, Autoantibodies, Autoimmune disease, medicine.diagnostic_test, business.industry, Respiratory disease, Infant, Newborn, Autoantibody, Granulocyte-Macrophage Colony-Stimulating Factor, Infant, medicine.disease, Bronchoalveolar lavage, Child, Preschool, Immunology, Age of onset, Pulmonary alveolar proteinosis, business, Bronchoalveolar Lavage Fluid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8badd34e09f73ffdfc858965d4cd4d1
https://doi.org/10.1136/thx.2004.021329

المؤلفون: M Tredano, Georg Johnen, C. Rieger, Michel Bahuau, MF Beers, Surafel Mulugeta, Matthias Griese, Matthias Ochs, Klaus-Michael Müller, Frank Brasch

المصدر: European Respiratory Journal. 24:30-39

مصطلحات موضوعية: Male, Pulmonary and Respiratory Medicine, Pathology, medicine.medical_specialty, Blotting, Western, Molecular Sequence Data, Mutant, Mutation, Missense, Biology, Gene mutation, medicine.disease_cause, Polymerase Chain Reaction, Sensitivity and Specificity, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Genetic Testing, Pulmonary surfactant-associated protein C, Mutation, Base Sequence, Biopsy, Needle, Infant, Newborn, Surfactant protein C, Prognosis, medicine.disease, Immunohistochemistry, Molecular biology, Fusion protein, Lung Diseases, Interstitial, Pulmonary alveolar proteinosis, Protein C

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3326c5edb3723e247ce447185c5262e
https://doi.org/10.1183/09031936.04.00000104

المؤلفون: François Cartault, Jacques Elion, Rémy Couderc, Tifenn Lorant, Matthias Griese, M Tredano, Bertrand Delaisi, Frédérique Capron, Michel Bahuau, Liliane Boccon-Gibod, Claude Houdayer, Silja Schumacher, Jacques de Blic, Thierry Lacaze-Masmonteil, Sylvain Renolleau

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Male, Proband, Heterozygote, medicine.medical_specialty, Genotype, Genetic counseling, Molecular Sequence Data, Population, Single-nucleotide polymorphism, Disease, Consanguinity, Pulmonary Alveolar Proteinosis, Immunoenzyme Techniques, Internal medicine, Humans, Medicine, Amino Acid Sequence, Child, education, Genetics (clinical), Respiratory Distress Syndrome, Newborn, education.field_of_study, Polymorphism, Genetic, Pulmonary Surfactant-Associated Protein B, Sequence Homology, Amino Acid, Respiratory distress, business.industry, Infant, Newborn, Infant, Pulmonary Surfactants, DNA, Pedigree, Phenotype, Child, Preschool, Mutation, Female, business, Bronchoalveolar Lavage Fluid, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54a36939b2574dde775632ef08336a4c
https://doi.org/10.1002/ajmg.a.20058

المؤلفون: Rémy Couderc, Claude Houdayer, M-P Vazquez, V Soupre, Michel Bahuau, M Tredano

المصدر: Clinical Genetics. 62:470-473

مصطلحات موضوعية: Genetics, Mutation, business.industry, Sequence analysis, Genetic heterogeneity, Distichiasis, Anatomy, medicine.disease_cause, medicine.disease, humanities, Genetic determinism, Lymphedema, medicine, Webbed neck, medicine.symptom, Allele, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::17da4c5ebf10bc06253ea5a398c7493c
https://doi.org/10.1034/j.1399-0004.2002.620608.x