Works matching AU Cavé, Hélène

Results: 52
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    Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

    Published in:
    Journal of Human Genetics, 2008, v. 53, n. 9, p. 834, doi. 10.1007/s10038-008-0320-0
    By:
    • Narumi, Yoko;
    • Aoki, Yoko;
    • Niihori, Tetsuya;
    • Sakurai, Masahiro;
    • Cavé, Hélène;
    • Verloes, Alain;
    • Nishio, Kimio;
    • Ohashi, Hirofumi;
    • Kurosawa, Kenji;
    • Okamoto, Nobuhiko;
    • Kawame, Hiroshi;
    • Mizuno, Seiji;
    • Kondoh, Tatsuro;
    • Addor, Marie-Claude;
    • Coeslier-Dieux, Anne;
    • Vincent-Delorme, Catherine;
    • Tabayashi, Koichi;
    • Aoki, Masashi;
    • Kobayashi, Tomoko;
    • Guliyeva, Afag
    Publication type:
    Article
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    Clonal dynamics in pediatric B‐cell precursor acute lymphoblastic leukemia with very early relapse.

    Published in:
    Pediatric Blood & Cancer, 2022, v. 69, n. 1, p. 1, doi. 10.1002/pbc.29361
    By:
    • Antić, Željko;
    • Yu, Jiangyan;
    • Bornhauser, Beat C.;
    • Lelieveld, Stefan H.;
    • van der Ham, Cedric G.;
    • van Reijmersdal, Simon V.;
    • Morgado, Lionel;
    • Elitzur, Sarah;
    • Bourquin, Jean‐Pierre;
    • Cazzaniga, Giovanni;
    • Eckert, Cornelia;
    • Camós, Mireia;
    • Sutton, Rosemary;
    • Cavé, Hélène;
    • Moorman, Anthony V.;
    • Sonneveld, Edwin;
    • Geurts van Kessel, Ad;
    • van Leeuwen, Frank N.;
    • Hoogerbrugge, Peter M.;
    • Waanders, Esmé
    Publication type:
    Article
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    Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

    Published in:
    Nature Genetics, 2006, v. 38, n. 3, p. 294, doi. 10.1038/ng1749
    By:
    • Niihori, Tetsuya;
    • Aoki, Yoko;
    • Narumi, Yoko;
    • Neri, Giovanni;
    • Cavé, Hélène;
    • Verloes, Alain;
    • Okamoto, Nobuhiko;
    • Hennekam, Raoul C. M.;
    • Gillessen-Kaesbach, Gabriele;
    • Wieczorek, Dagmar;
    • Kavamura, Maria Ines;
    • Kurosawa, Kenji;
    • Ohashi, Hirofumi;
    • Wilson, Louise;
    • Heron, Delphine;
    • Bonneau, Dominique;
    • Corona, Giuseppina;
    • Kaname, Tadashi;
    • Naritomi, Kenji;
    • Baumann, Clarisse
    Publication type:
    Article
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    Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study.

    Published in:
    2020
    By:
    • Le Bourgeois, Fleur;
    • Beltrand, Jacques;
    • Baz, Baz;
    • Julla, Jean-Baptiste;
    • Riveline, Jean-Pierre;
    • Simon, Albane;
    • Flechtner, Isabelle;
    • Djoudi, Malek Ait;
    • Fauret-Amsellem, Anne-Laure;
    • Vial, Yoann;
    • Scharfmann, Raphael;
    • Sommet, Julie;
    • Boudou, Philippe;
    • Cavé, Hélène;
    • Polak, Michel;
    • Gautier, Jean-François;
    • Busiah, Kanetee;
    • Ait Djoudi, Malek;
    • TNDM Long-Term Follow-Up Study Group
    Publication type:
    journal article
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    Two distinct fetal‐type signatures characterize juvenile myelomonocytic leukemia.

    Published in:
    HemaSphere, 2025, v. 9, n. 3, p. 1, doi. 10.1002/hem3.70104
    By:
    • Strullu, Marion;
    • Arfeuille, Chloé;
    • Caye‐Eude, Aurélie;
    • Maillard, Loïc;
    • Lainey, Elodie;
    • Piques, Florian;
    • Cassinat, Bruno;
    • Guimiot, Fabien;
    • Dalle, Jean‐Hugues;
    • Baruchel, André;
    • Chomienne, Christine;
    • Bonnet, Dominique;
    • Souyri, Michèle;
    • Cavé, Hélène
    Publication type:
    Article
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    Safety and Effectiveness of Oral Glyburide Suspension in Neonatal Diabetes Mellitus: French Retrospective Cohort Study.

    Published in:
    Journal of the Endocrine Society, 2025, v. 9, n. 7, p. 1, doi. 10.1210/jendso/bvaf083
    By:
    • Rhaiem, Ines Ben;
    • Beltrand, Jacques;
    • Vermillac, Gaëlle;
    • Kariyawasam, Dulanjalee;
    • Geraud, Delphine;
    • Besançon, Alix;
    • Godot, Cécile;
    • Berdugo, Marianne;
    • Bonnard, Adeline Alice;
    • Cavé, Hélène;
    • Nivot-Adamiak, Sylvie;
    • Saade, Marie Béatrice;
    • Ribault, Virginie;
    • Baron, Sabine;
    • Petit-Bibal, Cécile;
    • Dalla-Vale, Fabienne;
    • Bourdet, Karine;
    • Morin, Carole;
    • Donzeau, Aurélie;
    • Gueorguieva, Iva
    Publication type:
    Article
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    Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.

    Published in:
    Human Molecular Genetics, 2020, v. 29, n. 11, p. 1772, doi. 10.1093/hmg/ddz108
    By:
    • Motta, Marialetizia;
    • Sagi-Dain, Lena;
    • Krumbach, Oliver H F;
    • Hahn, Andreas;
    • Peleg, Amir;
    • German, Alina;
    • Lissewski, Christina;
    • Coppola, Simona;
    • Pantaleoni, Francesca;
    • Kocherscheid, Luisa;
    • Altmüller, Franziska;
    • Schanze, Denny;
    • Logeswaran, Thushiha;
    • Chahrokh-Zadeh, Soheyla;
    • Munzig, Anna;
    • Nakhaei-Rad, Saeideh;
    • Cavé, Hélène;
    • Ahmadian, Mohammad R;
    • Tartaglia, Marco;
    • Zenker, Martin
    Publication type:
    Article
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    Clinical value of pre-transplant minimal residual disease in childhood lymphoblastic leukaemia: the results of the French minimal residual disease-guided protocol.

    Published in:
    British Journal of Haematology, 2014, v. 165, n. 3, p. 392, doi. 10.1111/bjh.12749
    By:
    • Gandemer, Virginie;
    • Pochon, Cécile;
    • Oger, Emmanuel;
    • Dalle, Jean‐Hugues H.;
    • Michel, Gérard;
    • Schmitt, Claudine;
    • Berranger, Eva;
    • Galambrun, Claire;
    • Cavé, Hélène;
    • Cayuela, Jean‐Michel;
    • Grardel, Nathalie;
    • Macintyre, Elizabeth;
    • Margueritte, Geneviève;
    • Méchinaud, Françoise;
    • Rorhlich, Pierre;
    • Lutz, Patrick;
    • Demeocq, François;
    • Schneider, Pascale;
    • Plantaz, Dominique;
    • Poirée, Marilyne
    Publication type:
    Article
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    Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.

    Published in:
    British Journal of Haematology, 2010, v. 151, n. 5, p. 460, doi. 10.1111/j.1365-2141.2010.08393.x
    By:
    • Pérez, Benoîte;
    • Kosmider, Olivier;
    • Cassinat, Bruno;
    • Renneville, Aline;
    • Lachenaud, Julie;
    • Kaltenbach, Sophie;
    • Bertrand, Yves;
    • Baruchel, André;
    • Chomienne, Christine;
    • Fontenay, Michaela;
    • Preudhomme, Claude;
    • Cavé, Hélène
    Publication type:
    Article
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    Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network.

    Published in:
    Nature Genetics, 2015, v. 47, n. 11, p. 1334, doi. 10.1038/ng.3420
    By:
    • Caye, Aurélie;
    • Strullu, Marion;
    • Cassinat, Bruno;
    • Gazal, Steven;
    • Lainey, Elodie;
    • Lachenaud, Julie;
    • Vivent, Jocelyne;
    • Verger, Emmanuelle;
    • Vidaud, Dominique;
    • Picard, Capucine;
    • Dalle, Jean-Hugues;
    • Baruchel, André;
    • Chomienne, Christine;
    • Cavé, Hélène;
    • Guidez, Fabien;
    • Méchinaud, Françoise;
    • Adjaoud, Dalila;
    • Paillard, Catherine;
    • Nelken, Brigitte;
    • Reguerre, Yves
    Publication type:
    Article
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    Highly Sensitive Diagnosis of 43 Monogenic Forms of Diabetes or Obesity Through One-Step PCR-Based Enrichment in Combination With Next-Generation Sequencing.

    Published in:
    Diabetes Care, 2014, v. 37, n. 2, p. 460, doi. 10.2337/dc13-0698
    By:
    • Bonnefond, Amélie;
    • Philippe, Julien;
    • Durand, Emmanuelle;
    • Muller, Jean;
    • Saeed, Sadia;
    • Arslan, Muhammad;
    • Martínez, Rosa;
    • De Graeve, Franck;
    • Dhennin, Véronique;
    • Rabearivelo, Iandry;
    • Polak, Michel;
    • Cavé, Hélène;
    • Castaño, Luis;
    • Vaxillaire, Martinez;
    • Mandel, Jean-Louis;
    • Sand, Olivier;
    • Froguel, Philippe
    Publication type:
    Article
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    Cherubism as a systemic skeletal disease: evidence from an aggressive case.

    Published in:
    2020
    By:
    • Morice, Anne;
    • Joly, Aline;
    • Ricquebourg, Manon;
    • Maruani, Gérard;
    • Durand, Emmanuel;
    • Galmiche, Louise;
    • Amiel, Jeanne;
    • Vial, Yoann;
    • Cavé, Hélène;
    • Belhous, Kahina;
    • Piketty, Marie;
    • Cohen-Solal, Martine;
    • Berdal, Ariane;
    • Collet, Corinne;
    • Picard, Arnaud;
    • Coudert, Amelie E.;
    • Kadlub, Natacha
    Publication type:
    journal article
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    Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency.

    Published in:
    European Journal of Endocrinology, 2018, v. 179, n. 6, p. 409, doi. 10.1530/EJE-18-0582
    By:
    • Moniez, Sophie;
    • Pienkowski, Catherine;
    • Lepage, Benoit;
    • Hamdi, Safouane;
    • Daudin, Myriam;
    • Oliver, Isabelle;
    • Jouret, Béatrice;
    • Cartault, Audrey;
    • Diene, Gwenaelle;
    • Verloes, Alain;
    • Cavé, Hélène;
    • Salles, Jean-Pierre;
    • Tauber, Maithé;
    • Yart, Armelle;
    • Edouard, Thomas
    Publication type:
    Article
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    Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2924, doi. 10.1002/ajmg.a.40632
    By:
    • Rauen, Katherine A.;
    • Schoyer, Lisa;
    • Schill, Lisa;
    • Stronach, Beth;
    • Albeck, John;
    • Andresen, Brage S.;
    • Cavé, Hélène;
    • Ellis, Michelle;
    • Fruchtman, Steven M.;
    • Gelb, Bruce D.;
    • Gibson, Christopher C.;
    • Gripp, Karen;
    • Hefner, Erin;
    • Huang, William Y. C.;
    • Itkin, Maxim;
    • Kerr, Bronwyn;
    • Linardic, Corinne M.;
    • McMahon, Martin;
    • Oberlander, Beverly;
    • Perlstein, Ethan
    Publication type:
    Article
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    Large deletions of the 5′ region of IKZF1 lead to haploinsufficiency in B‐cell precursor acute lymphoblastic leukaemia.

    Published in:
    British Journal of Haematology, 2019, v. 186, n. 5, p. e155, doi. 10.1111/bjh.15994
    By:
    • Morel, Guillaume;
    • Deau, Marie‐Céline;
    • Simand, Célestine;
    • Caye‐Eude, Aurélie;
    • Arfeuille, Chloé;
    • Ittel, Antoine;
    • Miguet, Laurent;
    • Mauvieux, Laurent;
    • Herbrecht, Raoul;
    • Paillard, Catherine;
    • Strullu, Marion;
    • Cavé, Hélène;
    • Chan, Susan;
    • Kastner, Philippe;
    • Heizmann, Beate
    Publication type:
    Article
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    Follow-up of post-transplant minimal residual disease and chimerism in childhood lymphoblastic leukaemia: 90 d to react.

    Published in:
    British Journal of Haematology, 2015, v. 169, n. 2, p. 249, doi. 10.1111/bjh.13272
    By:
    • Pochon, Cécile;
    • Oger, Emmanuel;
    • Michel, Gérard;
    • Dalle, Jean‐Hugues;
    • Salmon, Alexandra;
    • Nelken, Brigitte;
    • Bertrand, Yves;
    • Cavé, Hélène;
    • Cayuela, Jean‐Michel;
    • Grardel, Nathalie;
    • Macintyre, Elizabeth;
    • Margueritte, Geneviève;
    • Méchinaud, Françoise;
    • Rohrlich, Pierre;
    • Paillard, Catherine;
    • Demeocq, François;
    • Schneider, Pascale;
    • Plantaz, Dominique;
    • Poirée, Marilyne;
    • Eliaou, Jean‐François
    Publication type:
    Article
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    Long non-coding RNAs as novel therapeutic targets in juvenile myelomonocytic leukemia.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82509-5
    By:
    • Hofmans, Mattias;
    • Lammens, Tim;
    • Depreter, Barbara;
    • Wu, Ying;
    • Erlacher, Miriam;
    • Caye, Aurélie;
    • Cavé, Hélène;
    • Flotho, Christian;
    • de Haas, Valerie;
    • Niemeyer, Charlotte M.;
    • Stary, Jan;
    • Van Nieuwerburgh, Filip;
    • Deforce, Dieter;
    • Van Loocke, Wouter;
    • Van Vlierberghe, Pieter;
    • Philippé, Jan;
    • De Moerloose, Barbara
    Publication type:
    Article
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    Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03706-3
    By:
    • Bessis, Didier;
    • Vidaud, Dominique;
    • Meyer, Pierre;
    • Pacot, Laurence;
    • G, de La Villeon;
    • Bonnard, Adeline Alice;
    • Capri, Yline;
    • Coubes, Christine;
    • Herman, Fanchon;
    • Lacombe, Didier;
    • Molinari, Nicolas;
    • Poujade, Laura;
    • Roubertie, Agathe;
    • Van Gils, Julien;
    • Verloes, Alain;
    • Geneviève, David;
    • Cavé, Hélène;
    • Willems, Marjolaine
    Publication type:
    Article
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