يعرض 1 - 10 نتائج من 482 نتيجة بحث عن '"Durandy, Anne"', وقت الاستعلام: 0.87s تنقيح النتائج
  1. 1
    دورية أكاديمية
    A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency ; A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency: A neomorphic variant in IRF4 alters transcriptional activity

    المؤلفون: Thouenon, Romane, Chentout, Loïc, Moreno-Corona, Nidia, Poggi, Lucie, Lombardi, Emilia Puig, Hoareau, Benedicte, Schmitt, Yohann, Lagresle-Peyrou, Chantal, Bustamante, Jacinta, André, Isabelle, Cavazzana, Marina, Durandy, Anne, Casanova, Jean-Laurent, Galicier, Lionel, Fadlallah, Jehane, Fischer, Alain, Kracker, Sven

    المساهمون: Imagine Institute

    المصدر: ISSN: 0022-1007.

    مصطلحات موضوعية: Interferon regulatory factor 4 hypogammaglobulinemia Plasma cell differentiation Terminal T cell differentiation interferon-stimulated response elements, Interferon regulatory factor 4, hypogammaglobulinemia, Plasma cell differentiation, Terminal T cell differentiation, interferon-stimulated response elements, [SDV]Life Sciences [q-bio]

    العلاقة: hal-04029076; https://hal.science/hal-04029076Test; https://hal.science/hal-04029076/documentTest; https://hal.science/hal-04029076/file/IRF4%20F359L%20paper%20-%20Author%20version_SK.pdfTest

    الإتاحة: https://doi.org/10.1084/jem.20221292Test
    https://hal.science/hal-04029076Test
    https://hal.science/hal-04029076/documentTest
    https://hal.science/hal-04029076/file/IRF4%20F359L%20paper%20-%20Author%20version_SK.pdfTest

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  2. 2
    دورية أكاديمية
    UnAIDed Class Switching in Activated B-Cells Reveals Intrinsic Features of a Self-Cleaving IgH Locus

    المؤلفون: Dalloul, Iman, Laffleur, Brice, Dalloul, Zeinab, Wehbi, Batoul, Jouan, Florence, Brauge, Baptiste, Derouault, Paco, Moreau, Jeanne, Kracker, Sven, Fischer, Alain, Durandy, Anne, Le Noir, Sandrine, Cogne, Michel

    المساهمون: Contrôle de la Réponse Immune B et des Lymphoproliférations (CRIBL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Microenvironment, Cell Differentiation, Immunology and Cancer (MICMAC), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Limoges, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), ANR-16-CE15-0019-01, Agence Nationale de la Recherche, Association pour la Recherche sur le Cancer, ANR-16-CE15-0019,Ig-MemImpact,Rôle de la classe des Ig / BCR dans les interactions cellulaires supportant la mémoire immune et impact immunopathologique(2016)

    المصدر: ISSN: 1664-3224.

    مصطلحات موضوعية: B lymphocyte, class switch DNA recombination (CSR), AICDA, immunoglobulin, class switch, [SDV]Life Sciences [q-bio]

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34777346; hal-03475084; https://hal.science/hal-03475084Test; https://hal.science/hal-03475084/documentTest; https://hal.science/hal-03475084/file/Dalloul.pdfTest; PUBMED: 34777346; PUBMEDCENTRAL: PMC8581400

    الإتاحة: https://doi.org/10.3389/fimmu.2021.737427Test
    https://hal.science/hal-03475084Test
    https://hal.science/hal-03475084/documentTest
    https://hal.science/hal-03475084/file/Dalloul.pdfTest

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  3. 3
    دورية أكاديمية
    Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling

    المؤلفون: Moreno-Corona, Nidia, Chentout, Loïc, Poggi, Lucie, Thouenon, Romane, Masson, Cecile, Parisot, Melanie, Mouel, Lou Le, Picard, Capucine, André, Isabelle, Cavazzana, Marina, Perrin, Laurence, Durandy, Anne, Azarnoush, Saba, Kracker, Sven

    المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Robert Debré, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), ANR-19-CE17-0012,AID,déficits immunitaires héréditaires humoraux: génétique et mécanismes pathologiques(2019)

    المصدر: ISSN: 2296-2360 ; Frontiers in Pediatrics ; https://insu.hal.science/insu-03369725Test ; Frontiers in Pediatrics, 2021, 9, pp.688022. ⟨10.3389/fped.2021.688022⟩.

    مصطلحات موضوعية: APDS2, PI3K signaling, PIK3R1, primary immunodeficiency, neurodevelopmental impact, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.IMM.II]Life Sciences [q-bio]/Immunology/Innate immunity, [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology

    العلاقة: insu-03369725; https://insu.hal.science/insu-03369725Test; https://insu.hal.science/insu-03369725/documentTest; https://insu.hal.science/insu-03369725/file/fped-09-688022.pdfTest

    الإتاحة: https://doi.org/10.3389/fped.2021.688022Test
    https://insu.hal.science/insu-03369725Test
    https://insu.hal.science/insu-03369725/documentTest
    https://insu.hal.science/insu-03369725/file/fped-09-688022.pdfTest

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  4. 4
    دورية أكاديمية
    Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction

    المؤلفون: Català-Moll, Francesc, Ferreté-Bonastre, Anna G, Li, Tianlu, Weichenhan, Dieter, Lutsik, Pavlo, Ciudad, Laura, Álvarez-Prado, Ángel F., Rodríguez-Ubreva, Javier, Klemann, Christian, Speckmann, Carsten, Vilas-Zornoza, Amaya, Abolhassani, Hassan, Martinez-Gallo, Monica, Dieli-Crimi, Romina, Rivière, Jacques G., Martín-Nalda, Andrea, Colobran, Roger, Soler-Palacín, Pere, Kracker, Sven, Hammarström, Lennart, Prósper, Felipe, Durandy, Anne, Grimbacher, Bodo, Plass, Christoph, Ballestar, Esteban

    المصدر: Nucleic acids research. - 49, 9 (2021) , 5057-5073, ISSN: 1362-4962

    وصف الملف: pdf

    العلاقة: https://freidok.uni-freiburg.de/data/218746Test

    الإتاحة: https://doi.org/10.1093/nar/gkab322Test
    https://freidok.uni-freiburg.de/data/218746Test
    https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2187463Test
    https://freidok.uni-freiburg.de/dnb/download/218746Test

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  5. 5
    دورية أكاديمية
    Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction

    المؤلفون: Català Moll, Francesc, Ferreté Bonastre, Anna G., Li, Tianlu, Weichenhan, Dieter, Lutsik, Pavlo, Ciudad, Laura, Álvarez Prado, Ángel F., Rodríguez Ubreva, Javier, Klemann, Christian, Speckmann, Carsten, Vilas Zornoza, Amaya, Abolhassani, Hassan, Martínez Gallo, Mónica, Dieli Crimi, Romina, Rivière, Jacques G., Martín Nalda, Andrea, Colobran, Roger, Soler Palacín, Pere, Kracker, Sven, Hammarström, Lennart, Prosper, Felipe, Durandy, Anne, Grimbacher, Bodo, Plass, Christoph, Ballestar Tarín, Esteban

    المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

    مصطلحات موضوعية: ADN, Metilació, Cèl·lules B, DNA, Methylation, B cells

    وصف الملف: 17 p.; application/pdf

    العلاقة: Reproducció del document publicat a: https://doi.org/10.1093/nar/gkab322Test; Nucleic Acids Research, 2021, vol. 49, num. 9, p. 5057-5073; https://doi.org/10.1093/nar/gkab322Test; http://hdl.handle.net/2445/178643Test

    الإتاحة: https://doi.org/10.1093/nar/gkab322Test
    http://hdl.handle.net/2445/178643Test

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  6. 6
    دورية أكاديمية
    Activated PI3Kinase Delta Syndrome—A Multifaceted Disease

    المؤلفون: Thouenon, Romane, Moreno-Corona, Nidia, Poggi, Lucie, Durandy, Anne, Kracker, Sven

    المساهمون: Laboratory of Human Lymphohematopoiesis, Inst Imagine, Paris, France, Partenaires INRAE-Partenaires INRAE, ANR-19-CE17-0012,AID,déficits immunitaires héréditaires humoraux: génétique et mécanismes pathologiques(2019)

    المصدر: ISSN: 2296-2360 ; Frontiers in Pediatrics ; https://hal-insu.archives-ouvertes.fr/insu-03369732Test ; Frontiers in Pediatrics, 2021, 9, ⟨10.3389/fped.2021.652405⟩.

    مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

    العلاقة: insu-03369732; https://hal-insu.archives-ouvertes.fr/insu-03369732Test; https://hal-insu.archives-ouvertes.fr/insu-03369732/documentTest; https://hal-insu.archives-ouvertes.fr/insu-03369732/file/fped-09-652405.pdfTest

    الإتاحة: https://doi.org/10.3389/fped.2021.652405Test
    https://hal-insu.archives-ouvertes.fr/insu-03369732Test
    https://hal-insu.archives-ouvertes.fr/insu-03369732/documentTest
    https://hal-insu.archives-ouvertes.fr/insu-03369732/file/fped-09-652405.pdfTest

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  7. 7
    دورية أكاديمية
    Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency

    المؤلفون: Schiefer, Ana-Iris, Karakoc-Aydiner, Elif, Dmytrus, Jasmin, Bal, Sevgi Köstel, Uner, Aysegul, Kasap, Nurhan, Oberndorfer, Felicitas, Atan, Raziye, Aytekin, Elif Soyak, Metin, Ayse, Langley, David B, Worley, Lisa, Cagdas, DENİZ NAZİRE, Baris, Safa, Mayr, Daniel, Toyran, Muge, Uzel, Gulbu, Tezcan, Ilhan, Uçkan-Çetinkaya, Duygu, Tangye, Stuart G, Boztug, Kaan, Stepensky, Polina, Özen, Ahmet, Ma, Cindy S, Sanal, Ozden, Durandy, Anne, Neven, Bénédicte, Warnatz, Klaus, Deenick, Elissa K, Keller, Baerbel, Christ, Daniel, Kuskonmaz, Baris, Heredia, Raul Jimenez, Karasu, Gulsun, Torun, Selda Hancerli

    العلاقة: 5deb75a7-3dec-4912-9491-7e944a741155; https://avesis.hacettepe.edu.tr/publication/details/5deb75a7-3dec-4912-9491-7e944a741155/oaiTest

    الإتاحة: https://doi.org/10.1007/s10875-021-01031-5Test
    https://avesis.hacettepe.edu.tr/publication/details/5deb75a7-3dec-4912-9491-7e944a741155/oaiTest

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  8. 8
    دورية أكاديمية
    Known and potential molecules associated with altered B cell development leading to predominantly antibody deficiencies

    المؤلفون: Amirifar, Parisa, Yazdani, Reza, Azizi, Gholamreza, Ranjouri, Mohammad Reza, Durandy, Anne, Plebani, Alessandro, Lougaris, Vassilios, Hammarstrom, Lennart, Aghamohammadi, Asghar, Abolhassani, Hassan

    المساهمون: Candotti, Fabio

    المصدر: Pediatric Allergy and Immunology ; volume 32, issue 8, page 1601-1615 ; ISSN 0905-6157 1399-3038

    الإتاحة: https://doi.org/10.1111/pai.13589Test

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  9. 9
    دورية أكاديمية
    Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency

    المؤلفون: Cagdas, Deniz, Mayr, Daniel, Baris, Safa, Worley, Lisa, Langley, David B., Metin, Ayse, Aytekin, Elif Soyak, Atan, Raziye, Kasap, Nurhan, Bal, Sevgi Köstel, Dmytrus, Jasmin, Heredia, Raul Jimenez, Karasu, Gulsun, Torun, Selda Hancerli, Toyran, Muge, Karakoc-Aydiner, Elif, Christ, Daniel, Kuskonmaz, Baris, Uçkan-Çetinkaya, Duygu, Uner, Aysegul, Oberndorfer, Felicitas, Schiefer, Ana-Iris, Uzel, Gulbu, Deenick, Elissa K., Keller, Baerbel, Warnatz, Klaus, Neven, Bénédicte, Durandy, Anne, Sanal, Ozden, Ma, Cindy S., Özen, Ahmet, Stepensky, Polina, Tezcan, Ilhan, Boztug, Kaan, Tangye, Stuart G.

    المساهمون: National Health and Medical Research Council

    المصدر: Journal of Clinical Immunology ; volume 41, issue 6, page 1272-1290 ; ISSN 0271-9142 1573-2592

    مصطلحات موضوعية: Immunology, Immunology and Allergy

    الإتاحة: https://doi.org/10.1007/s10875-021-01031-5Test

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  10. 10
    دورية أكاديمية
    From dysgammaglobulinemia to autosomal dominant activation-induced cytidine deaminase deficiency: unraveling the mystery behind an inherited immunodeficiency first described 56 years ago

    المؤلفون: Fadlallah, Jehane, Chentout, Loic, Boisson, Bertrand, Pouliet, Aurore, Masson, Cecile, Morin, Florence, Durandy, Anne, Casanova, Jean-Laurent, Oksenhendler, Eric, Kracker, Sven

    المساهمون: Service d'Immunopathologie Hôpital Saint-Louis, Paris, Hopital Saint-Louis AP-HP (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Cité (UPCité), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratory of Human Genetics of Infectious Diseases (Necker Branch - INSERM U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Bioinformatics Core Facility (INSERM U1163), Sorbonne Paris Cité-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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), ANR-19-CE17-0012,AID,déficits immunitaires héréditaires humoraux: génétique et mécanismes pathologiques(2019)

    المصدر: ISSN: 0022-3476.

    مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

    العلاقة: hal-03009448; https://hal.science/hal-03009448Test; https://hal.science/hal-03009448/documentTest; https://hal.science/hal-03009448/file/Fadlallah_AID%20JPed_rev_SK_EO_%20not%20marked.pdfTest

    الإتاحة: https://doi.org/10.1016/j.jpeds.2020.03.024Test
    https://hal.science/hal-03009448Test
    https://hal.science/hal-03009448/documentTest
    https://hal.science/hal-03009448/file/Fadlallah_AID%20JPed_rev_SK_EO_%20not%20marked.pdfTest

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