المؤلفون: Agnieszka H. Ludwig-Słomczyńska, Michał T. Seweryn, Piotr Radkowski, Przemysław Kapusta, Julita Machlowska, Stepanka Pruhova, Daniela Gasperikova, Christine Bellanne-Chantelot, Andrew Hattersley, Balamurugan Kandasamy, Lisa Letourneau-Freiberg, Louis Philipson, Alessandro Doria, Paweł P. Wołkow, Maciej T. Małecki, Tomasz Klupa

المصدر: Molecular Medicine, Vol 28, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Age at disease onset, Diabetes, GWAS, HNF1A-MODY, Therapeutics. Pharmacology, RM1-950, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1076-1551; https://doaj.org/toc/1528-3658

URL الوصول: https://doaj.org/article/1277379c6c1841b58fa7e39cbf7164b8

المؤلفون: Laetitia Largeaud, Matthew Collin, Nils Monselet, Francois Vergez, Vincent Fregona, Lise Larcher, Pierre Hirsch, Nicolas Duployez, Audrey Bidet, Isabelle Luquet, Jacinta Bustamante, Stephanie Dufrechou, Nais Prade, Marie Nolla, Camille Hamelle, Suzanne Tavitian, Christophe Habib, Mateo Meynier, Christine Bellanne-Chantelot, Jean Donadieu, Flore Sicre de Fontbrune, Claire Fieschi, Alina Ferster, Francois Delhommeau, Eric Delabesse, Marlene Pasquet

المصدر: Haematologica, Vol 108, Iss 6 (2023)

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

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/10970; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/66d570b4c75a4f039dacadeac2564635

المؤلفون: José Timsit, Cécile Ciangura, Danièle Dubois-Laforgue, Cécile Saint-Martin, Christine Bellanne-Chantelot

المصدر: Frontiers in Endocrinology, Vol 12 (2022)

مصطلحات موضوعية: glucokinase, GCK-MODY, pregnancy, macrosomia, genotype, non-invasive fetal genotyping, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2021.802423/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/10226bc35a994ab9ba71ea2e47e94db2

المؤلفون: Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-1 (2022)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-022-31316-1; https://doaj.org/toc/2041-1723; https://doaj.org/article/8657ae5e714d4945aeb05193ccfe9904

الاتاحة: https://doi.org/10.1038/s41467-022-31316-1
https://doaj.org/article/8657ae5e714d4945aeb05193ccfe9904

المؤلفون: Viviana Marin-Esteban, Jenny Youn, Blandine Beaupain, Agnieszka Jaracz-Ros, Vincent Barlogis, Odile Fenneteau, Thierry Leblanc, Florence Bellanger, Philippe Pellet, Julien Buratti, Hélène Lapillonne, Françoise Bachelerie, Jean Donadieu, Christine Bellanné-Chantelot

المصدر: Haematologica, Vol 107, Iss 3 (2021)

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

Relation: https://haematologica.org/article/view/10467; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721; https://doaj.org/article/386c13106d6943ffa0345770ceaed11a

الاتاحة: https://doi.org/10.3324/haematol.2021.279254
https://doaj.org/article/386c13106d6943ffa0345770ceaed11a

المؤلفون: Barbara Schmaltz-Panneau, Anne Pagnier, Séverine Clauin, Julien Buratti, Caroline Marty, Odile Fenneteau, Klaus Dieterich, Blandine Beaupain, Jean Donadieu, Isabelle Plo, Christine Bellanné-Chantelot

المصدر: Haematologica, Vol 106, Iss 4 (2020)

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

Relation: https://haematologica.org/article/view/9714; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721; https://doaj.org/article/a6047325d00749d2a632477e336840d0

الاتاحة: https://doi.org/10.3324/haematol.2020.247825
https://doaj.org/article/a6047325d00749d2a632477e336840d0

المؤلفون: Jean Donadieu, Aurelia Alimi, Anais Brassier, Blandine Beaupain, Camille Wicker, jean-Meidi Alili, Christine Bellanne-Chantelot, Amelie Chaussade, Martin Castelle, Mathlide Lamarque, Isabelle Plo, Lea Durix, Aude Pion, Sylvie Souquere, Caroline Marty, Pierre Simon Rohrlich, Karine Mention, Wadih Abouchahla, Marie Szymanowski, Myriam Dao, Felipe Suarez, Paola Parronchi, Boaz Palterer, Noemie Urvoy, Hélène Lapillonne, Fabrizio Andreelli, Emile Van Schaftingen, Philippe Labrune, Pascale De Lonlay, Maria Veiga Da Cunha

المصدر: Blood. 140:8320-8322

مصطلحات موضوعية: Immunology, Cell Biology, Hematology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f908903037532ba168fa6dad1ffa8294
https://doi.org/10.1182/blood-2022-169243

المؤلفون: Xavier Donath, Cécile Saint-Martin, Danièle Dubois-Laforgue, Ramanan Rajasingham, François Mifsud, Cécile Ciangura, José Timsit, Christine Bellanné-Chantelot

المصدر: BMC Medicine, Vol 17, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Monogenic diabetes, MODY, Next-generation sequencing, Molecular diagnostics, Variant of uncertain significance, Pathogenic variants, Medicine

Relation: http://link.springer.com/article/10.1186/s12916-019-1363-0; https://doaj.org/toc/1741-7015; https://doaj.org/article/89fd01c2cce64b838c89838f47adb774

الاتاحة: https://doi.org/10.1186/s12916-019-1363-0
https://doaj.org/article/89fd01c2cce64b838c89838f47adb774

المؤلفون: Delphine Bouvet, Amélie Blondel, Jean-Madeleine de Sainte Agathe, Gwendoline Leroy, Cécile Saint-Martin, Christine Bellanné-Chantelot

Relation: https://doi.org/10.1155/2023/6661013

الاتاحة: https://doi.org/10.1155/2023/6661013

المؤلفون: Jean Donadieu, Marie Lamant, Claire Fieschi, Flore Sicre de Fontbrune, Aurélie Caye, Marie Ouachee, Blandine Beaupain, Jacinta Bustamante, Hélène A. Poirel, Bertrand Isidor, Eric Van Den Neste, Antoine Neel, Stanislas Nimubona, Fabienne Toutain, Vincent Barlogis, Nicolas Schleinitz, Thierry Leblanc, Pierre Rohrlich, Felipe Suarez, Dana Ranta, Wadih Abou Chahla, Bénédicte Bruno, Louis Terriou, Sylvie Francois, Bruno Lioure, Guido Ahle, Françoise Bachelerie, Claude Preudhomme, Eric Delabesse, Hélène Cave, Christine Bellanné-Chantelot, Marlène Pasquet

المصدر: Haematologica, Vol 103, Iss 8 (2018)

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

Relation: https://haematologica.org/article/view/8549; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721; https://doaj.org/article/513e4f473e844dbbb6cc5aae5c186c60

الاتاحة: https://doi.org/10.3324/haematol.2017.181909
https://doaj.org/article/513e4f473e844dbbb6cc5aae5c186c60

المؤلفون: Florence Pasquier, Caroline Marty, Thomas Balligand, Frédérique Verdier, Sarah Grosjean, Vitalina Gryshkova, Hana Raslova, Stefan N. Constantinescu, Nicole Casadevall, William Vainchenker, Christine Bellanné-Chantelot, Isabelle Plo

المصدر: Haematologica, Vol 103, Iss 4 (2018)

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

Relation: https://haematologica.org/article/view/8411; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721; https://doaj.org/article/aae6d764eb8940bc8d2a9ba7e178af49

الاتاحة: https://doi.org/10.3324/haematol.2017.176370
https://doaj.org/article/aae6d764eb8940bc8d2a9ba7e178af49

المؤلفون: Jean Donadieu, Fares Bou Mitri, Blandine Beaupain, Nathalie Alajidi, Jean Francois Viallard, Jean‐Philippe Le Paih, Mokrane Yacoub, Thierry Leblanc, Laurent Quero, Alexia Rouland, Louis Labbe, Claire Deback, Christine Bellanne‐Chantelot, Jean‐François Emile

المصدر: Pediatric bloodcancerREFERENCES. 69(11)

مصطلحات موضوعية: Neutropenia, Oncology, Neoplasms, Pediatrics, Perinatology and Child Health, Mutation, Humans, Hematology, Registries, Leukocyte Elastase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0fc6bb55a3e8b06a9e432e879796a3b
https://pubmed.ncbi.nlm.nih.gov/35969146

المؤلفون: Christine Bellanné-Chantelot, Matthieu Mosca, Caroline Marty, Rémi Favier, William Vainchenker, Isabelle Plo

المصدر: Frontiers in Endocrinology, Vol 8 (2017)

مصطلحات موضوعية: thrombopoietin, JAK2, MPL R102P, thrombocytosis, thrombocytopenia, CAMT, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

Relation: http://journal.frontiersin.org/article/10.3389/fendo.2017.00235/full; https://doaj.org/toc/1664-2392; https://doaj.org/article/4b587fd751924647b0f7546f550b74a7

الاتاحة: https://doi.org/10.3389/fendo.2017.00235
https://doaj.org/article/4b587fd751924647b0f7546f550b74a7

المؤلفون: Sébastien Héritier, Zofia Hélias-Rodzewicz, Rikhia Chakraborty, Amel G. Sengal, Christine Bellanné-Chantelot, Caroline Thomas, Anne Moreau, Sylvie Fraitag, Carl E. Allen, Jean Donadieu, Jean-François Emile

المصدر: Molecular Cancer, Vol 16, Iss 1, Pp 1-5 (2017)

مصطلحات موضوعية: Langerhans cell histiocytosis, BRAF, Splicing mutation, Targeted therapy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

Relation: http://link.springer.com/article/10.1186/s12943-017-0690-z; https://doaj.org/toc/1476-4598; https://doaj.org/article/5fcf34ebe17645f294020d25a4adfd9c

الاتاحة: https://doi.org/10.1186/s12943-017-0690-z
https://doaj.org/article/5fcf34ebe17645f294020d25a4adfd9c

المؤلفون: Isabelle Plo, Christine Bellanné-Chantelot, Matthieu Mosca, Stefania Mazzi, Caroline Marty, William Vainchenker

المصدر: Frontiers in Endocrinology, Vol 8 (2017)

مصطلحات موضوعية: thrombopoietin, MPL, JAK2, MPLR102P, thrombocytosis, thrombocytopenia, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

Relation: http://journal.frontiersin.org/article/10.3389/fendo.2017.00234/full; https://doaj.org/toc/1664-2392; https://doaj.org/article/bd052c719c59450fb601fdd6e12d8cd1

الاتاحة: https://doi.org/10.3389/fendo.2017.00234
https://doaj.org/article/bd052c719c59450fb601fdd6e12d8cd1

المؤلفون: Vincent Barlogis, Julien Buratti, Philippe Pellet, Thierry Leblanc, Agnieszka Jaracz-Ros, Viviana Marin-Esteban, Blandine Beaupain, Jenny Youn, Florence Bellanger, J. Donadieu, Hélène Lapillonne, Christine Bellanne-Chantelot, Françoise Bachelerie, Odile Fenneteau

المساهمون: Inflammation, microbiome, immunosurveillance (MI2), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Service d'hématologie-immunologie-oncologie pédiatrique [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), Centre national de référence des neutropénies chroniques [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)-CHU Trousseau [APHP], Registre des neutropénies chroniques [CHU Trousseau], Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'Hématologie Biologique [Hôpital Robert Debré, Paris], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité d'Hémato-Immunologie pédiatrique [Hôpital Robert Debré, Paris], Service d'Immuno-hématologie pédiatrique [Hôpital Robert Debré, Paris], Hôpital Robert Debré-Hôpital Robert Debré, Service de Génétique médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Gestionnaire, Hal Sorbonne Université

المصدر: Haematologica
Haematologica, Ferrata Storti Foundation, In press, ⟨10.3324/haematol.2021.279254⟩
Haematologica, In press, ⟨10.3324/haematol.2021.279254⟩

مصطلحات موضوعية: [SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology, Neutropenia, business.industry, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Hematology, Bioinformatics, Receptors, Interleukin-8B, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, 030220 oncology & carcinogenesis, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Medicine, Congenital Bone Marrow Failure Syndromes, Humans, business, Congenital Neutropenia, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Loss function, 030215 immunology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93a2698a2b984ed29b5b6cd9710507eb
https://pubmed.ncbi.nlm.nih.gov/34854278

المؤلفون: Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Sandrine Beaufils, Florence Bellanger, Nizar Mahlaoui, Anne Lambilliotte, Nathalie Aladjidi, Yves Bertrand, Valérie Mialou, Christine Perot, Gérard Michel, Fanny Fouyssac, Catherine Paillard, Virginie Gandemer, Patrick Boutard, Jacques Schmitz, Alain Morali, Thierry Leblanc, Christine Bellanné-Chantelot

المصدر: Haematologica, Vol 97, Iss 9 (2012)

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

Relation: https://haematologica.org/article/view/6400; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721; https://doaj.org/article/f044c866e6ca4611810b89a4ed17ff0f

الاتاحة: https://doi.org/10.3324/haematol.2011.057489
https://doaj.org/article/f044c866e6ca4611810b89a4ed17ff0f

المؤلفون: Sabina I. Swierczek, Donghoon Yoon, Christine Bellanné-Chantelot, Soo Jin Kim, Cécile Saint-Martin, Francois Delhommeau, Albert Najman, Josef T. Prchal

المصدر: Haematologica, Vol 96, Iss 5 (2011)

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

Relation: https://haematologica.org/article/view/5976; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721; https://doaj.org/article/06f8e7eab89a4e7ba1a4876da408e923

الاتاحة: https://doi.org/10.3324/haematol.2010.029678
https://doaj.org/article/06f8e7eab89a4e7ba1a4876da408e923

المؤلفون: Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, Franck De Graeve, Sophie Gallina, Kanetee Busiah, Stéphane Lobbens, Albane Simon, Christine Bellanné-Chantelot, Louis Létourneau, Raphael Scharfmann, Jérôme Delplanque, Robert Sladek, Michel Polak, Martine Vaxillaire, Philippe Froguel

المصدر: PLoS ONE, Vol 5, Iss 10, p e13630 (2010)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC2964316?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/e73feef1b1744a2781107a84e361c0a7

الاتاحة: https://doi.org/10.1371/journal.pone.0013630
https://doaj.org/article/e73feef1b1744a2781107a84e361c0a7

المؤلفون: Cécile Saint-Martin (6942221), Delphine Bouvet (11423081), Mathilda Bastide (11423084), Christine Bellanné-Chantelot (4227307), the Monogenic Diabetes Study Group of the Société Francophone du Diabète (11423086)

مصطلحات موضوعية: Biological Sciences not elsewhere classified, Monogenics, Next Generation Sequencing, Maturity-Onset Diabetes of the Young (MODY), Mitochondrial Disorders, Wolfram Syndrome

Relation: https://figshare.com/articles/figure/Gene_Panel_Sequencing_of_Patients_With_Monogenic_Diabetes_Brings_to_Light_Genes_Typically_Associated_With_Syndromic_Presentations/16608850

الاتاحة: https://doi.org/10.2337/figshare.16608850.v3