المؤلفون: Magnus Pirovino, Christian Iseli, Joseph A Curran, Bernard Conrad

المصدر: PLoS Computational Biology, Vol 21, Iss 1, p e1012162 (2025)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-734X; https://doaj.org/toc/1553-7358

URL الوصول: https://doaj.org/article/1b003d484bcb4bbfa4c1fd00c179f0ad

المؤلفون: Bernard Conrad, Christian Iseli, Magnus Pirovino

المصدر: PLoS ONE, Vol 18, Iss 3, p e0281661 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/a6a9eb1571bc4ff488303ba792a07d8c

المؤلفون: Magnus Pirovino, Christian Iseli, Joseph A. Curran, Bernard Conrad

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::24040b70caa5ec6b4d380b241c100967
https://doi.org/10.1101/2023.05.25.542273

المؤلفون: Bernard Conrad, Christian De Geyter, Gideon Sartorius, Olav Lapaire, Rebecca Moffat, Anna Raggi

المصدر: Swiss Medical Forum ‒ Schweizerisches Medizin-Forum.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::41d98c8f0b4c68bbe7771b70e64ef7a4
https://doi.org/10.4414/smf.2018.03388

المؤلفون: Olav Lapaire, Christian De Geyter, Bernard Conrad, Rebecca Moffat, Anna Raggi, Gideon Sartorius

المصدر: Forum Médical Suisse ‒ Swiss Medical Forum.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::78faca07bfa0079bb0e34032be7d70a3
https://doi.org/10.4414/fms.2018.03388

المؤلفون: Brigitte T. Huber, Bernard Conrad, Samuel Marguerat, Thierry Pelet, Natalie Sutkowski, Françoise Meylan, Catherine Ucla, Yves Stauffer

المصدر: Immunity. 15(4):591-601

مصطلحات موضوعية: Genetically modified mouse, viruses, Immunology, Alpha interferon, chemical and pharmacologic phenomena, Endogeny, Transfection, Biology, Provirus, medicine.disease_cause, Virology, Autoimmunity, body regions, Infectious Diseases, Antigen, embryonic structures, parasitic diseases, Superantigen, medicine, Immunology and Allergy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b698720e39f118fcf123baf50886e86b

المؤلفون: Bernard Conrad, Denis F. Hochstrasser, Walter Reith, Bernard Mach, Krzysztof Masternak, Garry L. Corthals, Jean-Charles Sanchez, Madeleine Zufferey, Emmanuèle Barras, Ruedi Aebersold

المصدر: Nature Genetics, Vol. 20, No 3 (1998) pp. 273-277

مصطلحات موضوعية: Male, RFXANK, DNA, Complementary, Transcription Factors/chemistry/ genetics/metabolism, Genes, MHC Class II, Molecular Sequence Data, Regulatory Factor X Transcription Factors, chemical and pharmacologic phenomena, ddc:616.07, Biology, DNA-binding protein, Genetics, medicine, CIITA, Humans, Amino Acid Sequence, Promoter Regions, Genetic, Base Sequence, DNA-Binding Proteins/chemistry/ genetics/metabolism, Sequence Homology, Amino Acid, Histocompatibility Antigens Class II/ metabolism, Histocompatibility Antigens Class II, Bare lymphocyte syndrome, DNA, Complementary/genetics, Promoter, medicine.disease, Pedigree, DNA-Binding Proteins, Regulatory sequence, Mutation, Trans-Activators, Female, Ankyrin repeat, Trans-Activators/chemistry/ genetics/metabolism, RFX5, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27fa563bfc2c65bbb4fa596b5917ca86
https://doi.org/10.1038/3081

المؤلفون: Bernard Conrad, Isabelle Bouchardy, Jacqueline Schoumans, Armand Bottani, Annick Toutain, Bruno Pardo

المصدر: American Journal of Medical Genetics Part A. :903-905

مصطلحات موضوعية: Genetics, Marfan syndrome, Candidate gene, Biology, medicine.disease, Phenotype, Popliteal pterygium syndrome, medicine, Van der Woude syndrome, Craniofacial, Abnormality, Kabuki syndrome, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::165b7556711195a6eb63e7297ac1095d
https://doi.org/10.1002/ajmg.a.31168

المؤلفون: Rosanna Arcari, Bernard Conrad, Jürg Böni, Richard Nicolas Weissmahr, Jörg Schüpbach, Bernard Mach

المساهمون: University of Zurich, Conrad, B

المصدر: Cell. 90:303-313

مصطلحات موضوعية: 10028 Institute of Medical Virology, Adult, Adolescent, Molecular Sequence Data, 610 Medicine & health, chemical and pharmacologic phenomena, Endogeny, Genome, Viral, Antibodies, Viral, General Biochemistry, Genetics and Molecular Biology, Pathogenesis, Islets of Langerhans, Retrovirus, Viral Envelope Proteins, 1300 General Biochemistry, Genetics and Molecular Biology, parasitic diseases, MHC class I, Superantigen, Humans, Amino Acid Sequence, Child, Gene, Cells, Cultured, Phylogeny, Autoantibodies, B-Lymphocytes, Mammary tumor, Membrane Glycoproteins, Superantigens, Base Sequence, biology, Biochemistry, Genetics and Molecular Biology(all), T-cell receptor, Infant, Newborn, Infant, Membrane Proteins, RNA-Directed DNA Polymerase, biology.organism_classification, body regions, Diabetes Mellitus, Type 1, Mammary Tumor Virus, Mouse, Child, Preschool, Immunology, biology.protein, 570 Life sciences

وصف الملف: Conrad_vor.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63f863883a30d949cd1a048a73a2637c
https://doi.org/10.1016/s0092-8674(00)80338-4

المؤلفون: Edel A. O'Toole, Mariann Tihanyi, Celia Moss, Malcolm H.A. Rustin, Chris Bennett, Philip Bland, Catherine M T Chronnell, Daniel Poon, László Gárdos, Ishwar C. Verma, Daniela Nitoiu, John I. Harper, Saleem M. Taibjee, Nigel Burrows, David P. Kelsell, Diana C. Blaydon, Bernard Conrad, David Bourn, Andrea Császár, Vincent Plagnol, Claire A. Scott

المصدر: The Journal of investigative dermatology. 133(2)

مصطلحات موضوعية: Male, Mutant, Dermatology, Biology, medicine.disease_cause, Biochemistry, DNA sequencing, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Informed consent, medicine, Humans, Genetic Testing, Gene, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Ichthyosis, High-Throughput Nucleotide Sequencing, Cell Biology, Lamellar ichthyosis, Harlequin Ichthyosis, medicine.disease, 3. Good health, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fae8ca61e74d78305d6590dd62313c9
https://pubmed.ncbi.nlm.nih.gov/22992804

المؤلفون: Cécile, Martel, Michelle, Mollin, Sylvain, Beaumel, Jean Paul, Brion, Charles, Coutton, Véronique, Satre, Gaëlle, Vieville, Mary, Callanan, Christine, Lefebvre, Alexandra, Salmon, Anne, Pagnier, Dominique, Plantaz, Cécile, Bost-Bru, Laurence, Eitenschenck, Isabelle, Durieu, Daniel, Floret, Claire, Galambrun, Hervé, Chambost, Gérard, Michel, Jean-Louis, Stephan, Olivier, Hermine, Stéphane, Blanche, Nathalie, Blot, Hervé, Rubié, Guillaume, Pouessel, Stephanie, Drillon-Haus, Bernard, Conrad, Klara M, Posfay-Barbe, Zuzana, Havlicekova, Tamara, Voskresenky-Baricic, Kelecic, Jadranka, Maria Cristina, Arriazu, Luis Alberto, Garcia, Lamia, Sfaihi, Lamia Sfaihi Ben, Mansour, Pierre, Bordigoni, Marie José, Stasia

المساهمون: Conrad, Bernard, Posfay Barbe, Klara, Université Joseph Fourier - Grenoble 1 (UJF), TheREx, Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Maladie Infectieuse, CHU Grenoble, Service de Médecine Interne et Maladies Infectieuses, AGeing and IMagery (AGIM), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-École pratique des hautes études (EPHE)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de biochimie et génétique moléculaire, Institut d'oncologie/développement Albert Bonniot de Grenoble (INSERM U823), Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service Hématologie Infantile, Service de Médecine Interne - Centre Hospitalier Lyon Sud, Hospices Civils de Lyon (HCL)-Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Services de Réanimation et d'urgences Pédiatriques, Service d'Hématologie pédiatrique, Hôpital de la Timone, Marseille, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'hématologie pédiatrique, CHU Saint-Etienne, Laboratory of molecular mechanisms of hematologic disorders and therapeutic implications (ERL 8254 - Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Service d'immuno-hématologie pédiatrique [CHU Necker], Service de Pédiatrie Néonatologique, CH Sallanches, Unité d'Hémato-Oncologie, Hôpital des Enfants, Service de Pédiatrie, CH de Roubaix, Service de Pédiatrie et Onco-hématologie, CHU Strasbourg, DiaGena, MCL Niederwangen, Pediatric Infectious Diseases, University Hospital of Geneva, Department of Pediatrics, Comenius University [Bratislava], Pediatric Clinic Klaiceva, University Hospital Center Zagreb, Department of Pediatric and Pneumology, Hospital Privado Comunidad Argentina, Service de pédiatrie, Hedi Chaker Hospital [Sfax], Service de Médecine Infantile II [CHRU Nancy], Université Joseph Fourier - Grenoble 1 ( UJF ), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications [Grenoble] ( TIMC-IMAG ), Université Joseph Fourier - Grenoble 1 ( UJF ) -Institut polytechnique de Grenoble - Grenoble Institute of Technology ( Grenoble INP ) -IMAG-Centre National de la Recherche Scientifique ( CNRS ) -Université Grenoble Alpes ( UGA ) -Université Joseph Fourier - Grenoble 1 ( UJF ) -Institut polytechnique de Grenoble - Grenoble Institute of Technology ( Grenoble INP ) -IMAG-Centre National de la Recherche Scientifique ( CNRS ) -Université Grenoble Alpes ( UGA ), AGeing and IMagery ( AGIM ), Université Pierre Mendès France - Grenoble 2 ( UPMF ) -Université Joseph Fourier - Grenoble 1 ( UJF ) -École pratique des hautes études ( EPHE ) -Centre National de la Recherche Scientifique ( CNRS ), Institut d'oncologie/développement Albert Bonniot de Grenoble ( INSERM U823 ), Université Joseph Fourier - Grenoble 1 ( UJF ) -CHU Grenoble-EFS-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Hospices Civils de Lyon ( HCL ) -Centre Hospitalier Lyon Sud [CHU - HCL] ( CHLS ), Hospices Civils de Lyon ( HCL ), Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Laboratoire d'hématologie ( ERL 8254 ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Centre de Référence Déficits Immunitaires Héréditaires ( CEREDIH ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Comenius University, CHU Hédi Chaker, VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), Centre National de la Recherche Scientifique (CNRS)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Joseph Fourier - Grenoble 1 (UJF)-Université Pierre Mendès France - Grenoble 2 (UPMF), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Comenius University in Bratislava

المصدر: Journal of Clinical Immunology, Vol. 32, No 5 (2012) pp. 942-58
Journal of Clinical Immunology
Journal of Clinical Immunology, Springer Verlag, 2012, 32 (5), pp.942-58. ⟨10.1007/s10875-012-9698-8⟩
Journal of Clinical Immunology, Springer Verlag, 2012, 32 (5), pp.942-58. 〈10.1007/s10875-012-9698-8〉

مصطلحات موضوعية: Male, MESH: Membrane Glycoproteins, MESH : Membrane Glycoproteins, MESH : Child, Preschool, Granulomatous Disease, Chronic, medicine.disease_cause, [SDV.IMM.II]Life Sciences [q-bio]/Immunology/Innate immunity, Exon, 0302 clinical medicine, MESH : Child, MESH: Granulomatous Disease, Chronic, MESH: Child, Immunology and Allergy, Missense mutation, MESH : Female, MESH: NADPH Oxidase, Child, Genetics, 0303 health sciences, Mutation, Membrane Glycoproteins, ddc:618, MESH : Infant, MESH: Infant, Stop codon, 3. Good health, 030220 oncology & carcinogenesis, Child, Preschool, NADPH Oxidase 2, NADPH Oxidase/genetics, Female, MESH : Mutation, MESH: Mutation, MESH : Male, Immunology, Nonsense mutation, Biology, Frameshift mutation, 03 medical and health sciences, MESH : NADPH Oxidase, cronic granulomatous disease, genetic mutations, medicine, Humans, CYBB, 030304 developmental biology, [ SDV.IMM.II ] Life Sciences [q-bio]/Immunology/Innate immunity, MESH: Humans, Point mutation, MESH : Humans, MESH: Child, Preschool, NADPH Oxidases, Infant, Membrane Glycoproteins/genetics, Granulomatous Disease, Chronic/genetics, Molecular biology, MESH: Male, MESH : Granulomatous Disease, Chronic, MESH: Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7af4c7f99fc92140fce0715edcc28be6
https://archive-ouverte.unige.ch/unige:31691

المؤلفون: Horacio Rodriquez-Rilo, Giuliana Trucco, Camillo Ricordi, Bernard Conrad, David N. Finegold, William A. Rudert, Massimo Trucco, R. Behboo, Eckhart Weidmann

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Male, medicine.medical_specialty, Cellular immunity, endocrine system diseases, Receptors, Antigen, T-Cell, alpha-beta, T-Lymphocytes, T cell, Molecular Sequence Data, Autoantigens, Immunoenzyme Techniques, Islets of Langerhans, Antigens, CD, Internal medicine, Diabetes mellitus, medicine, Superantigen, Humans, Amino Acid Sequence, Child, Autoimmune disease, geography, Superantigens, Multidisciplinary, geography.geographical_feature_category, business.industry, Cell Membrane, T-cell receptor, Cell Differentiation, Flow Cytometry, medicine.disease, Islet, Clone Cells, Ketoacidosis, Diabetes Mellitus, Type 1, medicine.anatomical_structure, Endocrinology, Immunology, Autoradiography, business, Spleen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfb7ab05a4b19c5668079c9cee1907b5
https://doi.org/10.1038/371351a0

المؤلفون: Slawomir Wolczynski, Thierry Brue, Claire Bouvattier, Philippe Rondard, Isabelle Arnulf, Anne Guiochon-Mantel, F. Despert, Sylvie Cabrol, Paolo Tonella, Philippe Bouchard, Maria Ramos-Arroyo, Jean-Pierre Hardelin, Sylvie Brailly-Tabard, Michèle Mathieu, Jacques Young, Catherine Dodé, Gérard Reach, Graeme Morgan, Nathalie Chabbert-Buffet, Alfons Garcia-Piñero, James Lespinasse, Nicole De Talence, Arnaud Murat, Sébastien Jacquemont, Julie Sarfati, Bruno Delobel, Catherine Bremont, Anne Lienhardt-Roussie, Zinet Turki, Maud Bidet, Michel Pugeat, Hélène Du Boullay, Bernard Conrad

المساهمون: Récepteurs stéroïdiens : physiopathologie endocrinienne et métabolique, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR93-Université Paris-Sud - Paris 11 (UP11), Service de génétique moléculaire, pharmacogénétique et hormonologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Institut de Génomique Fonctionnelle (IGF), Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Head of the Department of Medical Genetics, Département de Génétique Chromosomique, Bâtiment Hôtel Dieu - Centre Hospitalier de Chambéry, Service de génétique médicale, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul-GHICL, Centre de recherche en neurobiologie - neurophysiologie de Marseille (CRN2M), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Microorganismes : Génome et Environnement (LMGE), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Centre National de la Recherche Scientifique (CNRS), Service d'Endocrinologie et Maladies de la reproduction, Université Paris-Sud - Paris 11 (UP11)-IFR93-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Montpellier 1 (UM1)-Université Montpellier 2 - Sciences et Techniques (UM2)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Saint Vincent de Paul-Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL)

المصدر: Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2010, 95 (2), pp.659-69. ⟨10.1210/jc.2009-0843⟩
Journal of Clinical Endocrinology and Metabolism, 2010, 95 (2), pp.659-69. ⟨10.1210/jc.2009-0843⟩

مصطلحات موضوعية: Male, Hydrocortisone, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, MESH: Receptors, G-Protein-Coupled, medicine.disease_cause, MESH: Neuropeptides, Biochemistry, Body Mass Index, Receptors, G-Protein-Coupled, Basal (phylogenetics), 0302 clinical medicine, Endocrinology, Cryptorchidism, Testis, Testosterone, MESH: Gastrointestinal Hormones, 10. No inequality, 2. Zero hunger, 0303 health sciences, Mutation, 030219 obstetrics & reproductive medicine, MESH: Testis, Phenotype, MESH: Hydrocortisone, Circadian Rhythm, Microphallus, MESH: Kallmann Syndrome, Female, medicine.medical_specialty, MESH: Mutation, Receptors, Peptide, MESH: Testosterone, Context (language use), Biology, MESH: Phenotype, MESH: Body Mass Index, Gastrointestinal Hormones, 03 medical and health sciences, MESH: Cryptorchidism, Internal medicine, medicine, Humans, MESH: Circadian Rhythm, Allele, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Alleles, 030304 developmental biology, MESH: Receptors, Peptide, MESH: Humans, MESH: Alleles, Biochemistry (medical), Neuropeptides, Prokineticin receptor 2, Kallmann Syndrome, medicine.disease, biology.organism_classification, MESH: Male, MESH: Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4870f9553c8bb28f082e878bd54986fd
https://pubmed.ncbi.nlm.nih.gov/20022991

المؤلفون: Bernard Conrad, Maja Steinlin, André Schaller, Roland Wiest, Sabina Gallati, F. Rubi, R. Wolf, Harald M. Bonel, B. Goeggel-Simonetti, L. Lieder, A. Nicoulaz

المصدر: American journal of medical genetics. Part A. (8)

مصطلحات موضوعية: Polyhydramnios, Monosomy, Chromosome Disorders, Biology, Chromosome Breakpoints, Fatal Outcome, Pregnancy, Genetics, medicine, Humans, Abnormalities, Multiple, Multiplex ligation-dependent probe amplification, Genetics (clinical), Genetic Association Studies, Brain Diseases, Comparative Genomic Hybridization, Infant, Newborn, Chromosome, Comparative Genome Hybridization, medicine.disease, Phenotype, Molecular biology, Chromosomes, Human, Pair 1, Premature Birth, Female, Septum Pellucidum, Agenesis of Corpus Callosum, Chromosome Deletion, Respiratory Insufficiency, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6337917381de45774f4d7bc228b0bd5f
https://pubmed.ncbi.nlm.nih.gov/21739569

المؤلفون: Xavier Estivill, Charles E. Schwartz, Louise Gallagher, Karen Buysse, Soo Mi Park, Iris Casuga, Stefania Gimelli, Regina Regan, Zhaoshi Jiang, Carl Baker, Pasquale Striano, Heather C Mefford, Patrick Verloo, Joris A. Veltman, Giorgio Gimelli, Edward S. Tobias, Sabina Gallati, Jon McClellan, Corrado Romano, Chris Lilley, Kelly Li, Samantha J. L. Knight, Joris Vermeesch, William Reardon, Markus Schwerzmann, Roger E. Stevenson, Koenraad Norga, Martin Poot, Geert Mortier, Yves Spysschaert, Ellen van Binsbergen, Evan E. Eichler, Koenraad Devriendt, Lorraine Gaunt, Bernard Conrad, Lluís Armengol, Stuart Schwartz, Catherine Mercer, John Tolmie, Viv K. Maloney, Lionel Willatt, Antonietta Coppola, Santina Reitano, Susan M. Gribble, John C. K. Barber, Anja De Coene, Frank Speleman, Frédérique Béna, Andy Itsara, Ron Hochstenbach, Caifu Chen, Linde Goossens, Adam Broomer, Tom Walsh, John A. Crolla, Shuwen Huang, Thomy de Ravel, May Tassabehji, Helen V. Firth, Cindy Skinner, Amanda L. Collins, Ernie M.H.F. Bongers, Stylianos E. Antonarakis, Diana Baralle, Michael Gill, Bert B.A. de Vries, Mary Claire King, Jill Clayton-Smith, Nicole de Leeuw, Georgina Parkin, Serena Nik-Zainal, Jonathan Sebat, James S. Sutcliffe, Ingrid Simonic, Björn Menten, Mariangela Lo Giudice, Marco Fichera, Lorenz Räber, Raoul C.M. Hennekam, Sarju G. Mehta, Andrew J. Sharp, Alison Male, Marcel R. Nelen, C. Geoffrey Woods

المساهمون: Mefford, H., Sharp, A., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V., Crolla, J., Baralle, D., Collins, A., Mercer, C., Norga, K., De Ravel, T., Devriendt, K., Bongers, E., De Leeuw, N., Reardon, W., Gimelli, S., Bena, F., Hennekam, R., Male, A., Gaunt, L., Clayton-Smith, J., Simonic, I., Park, S., Mehta, S., Nik-Zainal, S., Woods, C., Firth, H., Parkin, G., Fichera, M., Reitano, S., Lo Giudice, M., Li, K., Casuga, I., Broomer, A., Conrad, B., Schwerzmann, M., Räber, L., Gallati, S., Striano, P., Coppola, A., Tolmie, J., Tobias, E., Lilley, C., Armengol, L., Spysschaert, Y., Verloo, P., De Coene, A., Goossens, L., Mortier, G., Speleman, F., Van Binsbergen, E., Nelen, M., Hochstenbach, R., Poot, M., Gallagher, L., Gill, M., Mcclellan, J., King, M. -C., Regan, R., Skinner, C., Stevenson, R., Antonarakis, S., Chen, C., Estivill, X., Menten, B., Gimelli, G., Gribble, S., Schwartz, S., Sutcliffe, J., Walsh, T., Knight, S., Sebat, J., Romano, C., Schwartz, C., Veltman, J., De Vries, B., Vermeesch, J., Barber, J., Willatt, L., Tassabehji, M., Eichler, E., Gimelli, Stefania, Conrad, Bernard, Antonarakis, Stylianos, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatric Genetics, University of Groningen

المصدر: The New England Journal of Medicine, 359, 1685-99
New England Journal of Medicine, Vol. 359, No 16 (2008) pp. 1685-1699
New England journal of medicine, 359(16), 1685-U130. Massachussetts Medical Society
The New England Journal of Medicine, 359, 16, pp. 1685-99
ResearcherID
New England Journal of Medicine, 359(16), 1685-U130. MASSACHUSETTS MEDICAL SOC

مصطلحات موضوعية: Male, Microcephaly, Genetics and epigenetic pathways of disease [NCMLS 6], Congenital, Microcephaly/genetics, 0302 clinical medicine, Gene Duplication, Gene duplication, HUMAN GENOME, genetics, ddc:576.5, Copy-number variation, Child, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Heart Defects, Renal disorder [IGMD 9], Psychiatry, Gene Rearrangement, Recombination, Genetic, Genetics, 0303 health sciences, General Medicine, Microdeletion syndrome, Chromosomes, Human, Pair 1/ genetics, Heart Defects, Congenital/genetics, 3. Good health, Phenotype, Chromosomes, Human, Pair 1, Autism spectrum disorder, congenital/genetics, Pair 1, Female, Chromosome Deletion, Functional Neurogenomics [DCN 2], Human, Heart Defects, Congenital, SEGMENTAL DUPLICATIONS, MICRODELETION SYNDROME, Context (language use), COPY-NUMBER VARIATION, Chromosomes, Article, Cataract, Congenital Abnormalities, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Genetic, Translational research [ONCOL 3], Intellectual Disability, medicine, Humans, 22Q11.2 DELETION SYNDROME, Autistic Disorder, 030304 developmental biology, Congenital Abnormalities/ genetics, Chromosome Aberrations, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, Genetic Variation, Autistic Disorder/ genetics, Gene rearrangement, medicine.disease, Recombination, Cataract/congenital/genetics, POLYMORPHISM, INDIVIDUALS, Genetic defects of metabolism [UMCN 5.1], ATRIAL-FIBRILLATION, Autism, genetics, Cataract, congenital/genetics, Child, Chromosome Aberrations, Chromosome Deletion, Chromosomes, genetics, Congenital Abnormalities, genetics, Female, Gene Duplication, Gene Rearrangement, Genetic Variation, Heart Defects, genetics, Humans, Intellectual Disability, genetics, Male, Microcephaly, genetics, Phenotype, Recombination, Mental Retardation/ genetics, business, MENTAL-RETARDATION, ARRAY-CGH, 030217 neurology & neurosurgery, Immunity, infection and tissue repair [NCMLS 1]

وصف الملف: 893939 bytes; 1132418 bytes; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bce6f2f0e984a45b8d9aaf18602fd2a1
http://hdl.handle.net/20.500.11769/61979

المؤلفون: Fabienne Marcelli, Frédérique Béna, Bernard Conrad, Loredana D'Amato Sizonenko, Sophie Dahoun, Armand Bottani

المصدر: American journal of medical genetics. Part A. (16)

مصطلحات موضوعية: Chromosomes, Human, Pair 20, In situ hybridization, Biology, Genetics, medicine, Humans, Gene, Genetics (clinical), In Situ Hybridization, Fluorescence, Oligonucleotide Array Sequence Analysis, medicine.diagnostic_test, Learning Disabilities, Breakpoint, Chromosome, Telomere, Subtelomere, Phenotype, Molecular biology, Strabismus, Child, Preschool, Face, Female, Chromosome Deletion, Fluorescence in situ hybridization, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a3b1afb8b9754b426df5db1f1ada4b
https://pubmed.ncbi.nlm.nih.gov/17632785

المؤلفون: Bernard Conrad, Charles-André Haenggeli, Lucia Galli, Armand Bottani, Alfredo Orrico, Oliver Karam, Solene Ferey

المصدر: American Journal of Medical Genetics. A, Vol. 143A, No 19 (2007) pp. 2334-8

مصطلحات موضوعية: RhoGEF domain, Molecular Sequence Data, Mutation, Missense, GTPase, Biology, Genitalia/abnormalities, FGD1, Genetics, Polymicrogyria, medicine, Missense mutation, Guanine Nucleotide Exchange Factors, Animals, Humans, ddc:576.5, Genitalia, Amino Acid Sequence, Aarskog–Scott syndrome, Guanine Nucleotide Exchange Factors/chemistry/genetics, Genetics (clinical), ddc:618, Sequence Homology, Amino Acid, Genetic Diseases, X-Linked, Syndrome, Face/abnormalities, medicine.disease, Biological Evolution, Aarskog Syndrome, Face, Guanine nucleotide exchange factor, Rho Guanine Nucleotide Exchange Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a22be218ec83ed1d8030aacfceeb2e1
https://archive-ouverte.unige.ch/unige:43113

المؤلفون: Stylianos E. Antonarakis, Bernard Conrad

المصدر: Annual Review of Genomics and Human Genetics, Vol. 8 (2007) pp. 17-35

مصطلحات موضوعية: Gene Dosage, 2R hypothesis, Biology, Genome, Models, Biological, Gene Dosage/physiology, Evolution, Molecular, Genes, Developmental/physiology, Dosage Compensation, Genetic, Gene Duplication, Gene duplication, Genetics, Animals, Humans, ddc:576.5, Genetic Predisposition to Disease, Genes, Developmental, Copy-number variation, Molecular Biology, Gene, Genetics (clinical), Segmental duplication, Genome, Human, Genetic Diseases, Inborn, Genetic Variation, Gene Expression Regulation, Developmental, Phenotype, Genetic Diseases, Inborn/ genetics, Genetic Variation/ physiology, Dosage Compensation, Genetic/physiology, Haploinsufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd08f588ebcece1eaf47f57d583e2176
https://archive-ouverte.unige.ch/unige:9159

المؤلفون: Bruno Pardo, Jamel Chelly, Bernard Conrad, Lucia Bartoloni, Stylianos E. Antonarakis, Armand Bottani, Mandy Barker, Arjan P.M. de Brouwer, Valeria Capra

المصدر: American Journal of Medical Genetics. Part A, 143, 888-90
American Journal of Medical Genetics. A, Vol. 143A, No 8 (2007) pp. 888-890
American Journal of Medical Genetics. Part A, 143, 8, pp. 888-90

مصطلحات موضوعية: ddc:616, Male, Mental Retardation, X-Linked/etiology/ genetics, Base Sequence, media_common.quotation_subject, Conserved Sequence/ genetics, Genetic Variation, Art, University hospital, Genomic disorders and inherited multi-system disorders [IGMD 3], Genetic defects of metabolism [UMCN 5.1], Gene Frequency, Genetics, Mental Retardation, X-Linked, Humans, University medical, Female, Sequence variation, Humanities, Functional Neurogenomics [DCN 2], Genetics (clinical), Conserved Sequence, media_common

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::743c64a4012e2d24374caa58c5b85e9c
http://hdl.handle.net/2066/52830

المؤلفون: Georges Leclercq, Samuel Marguerat, Bernard Conrad, Magda De Smedt, Olivier Leupin, J. Plum, Françoise Meylan

المصدر: Blood. 105(11)

مصطلحات موضوعية: Adult, CD4-Positive T-Lymphocytes, viruses, Immunology, Retroviridae Proteins, chemical and pharmacologic phenomena, macromolecular substances, Thymus Gland, Biology, medicine.disease_cause, Transfection, Biochemistry, Clonal deletion, Autoimmunity, Negative selection, Mammary tumor virus, parasitic diseases, Superantigen, medicine, Immune Tolerance, Humans, Child, Frameshift Mutation, Gene, Aged, Superantigens, Endogenous Retroviruses, Peripheral tolerance, Membrane Proteins, Cell Biology, Hematology, Middle Aged, body regions, Gene Expression Regulation, Chromosomes, Human, Pair 1, Mutagenesis, Site-Directed, Central tolerance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c130e0461d9fa48c47fe0b1f07011d8
https://pubmed.ncbi.nlm.nih.gov/15644416