Risultati della ricerca - Cécile Saint‐Martin

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  1. 1
    Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

    Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia di Kevin Colclough, Christine Bellanné‐Chantelot, Cécile Saint‐Martin, Sarah E. Flanagan, Sian Ellard

    Pubblicazione 2013
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  2. 2
    Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (<i>HNF1B</i>) Molecular Defects

    Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (<i>HNF1B</i>) Molecular De... di Danièle Dubois‐Laforgue, Erika Cornu, Cécile Saint‐Martin, Joël Coste, Christine Bellanné‐Chantelot, José Timsit

    Pubblicazione 2017
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  3. 3
    Update on mutations in glucokinase (<i>GCK</i>), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

    Update on mutations in glucokinase (<i>GCK</i>), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia di Kara Osbak, Kevin Colclough, Cécile Saint‐Martin, Nicola L. Beer, Christine Bellanné‐Chantelot, Sian Ellard, Anna L. Gloyn

    Pubblicazione 2009
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  4. 4
    Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis

    Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis di Xavier Donath, Cécile Saint‐Martin, Danièle Dubois‐Laforgue, Ramanan Rajasingham, F. Mifsud, Cécile Ciangura, José Timsit, Christine Bellanné‐Chantelot

    Pubblicazione 2019
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  5. 5
    Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy

    Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy di Christel Depienne, Alexis Arzimanoglou, Oriane Trouillard, Estelle Fédirko, Stéphanie Baulac, Cécile Saint‐Martin, Merle Ruberg, Charlotte Dravet, Rima Nabbout, Michel Baulac, Isabelle Gourfinkel‐An, Eric Leguern

    Pubblicazione 2006
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  6. 6
    Congenital hyperinsulinism: current trends in diagnosis and therapy

    Congenital hyperinsulinism: current trends in diagnosis and therapy di Jean-Baptiste Arnoux, Virginie Verkarre, Cécile Saint‐Martin, Françoise Montravers, Anaïs Brassier, Vassili Valayannopoulos, Françis Brunelle, Jean-Christophe Fournet, Jean-Jacques Robert, Y. Aigrain, Christine Bellanné‐Chantelot, Pascale de Lonlay

    Pubblicazione 2011
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  7. 7
    Successful treatment of congenital hyperinsulinism with long-acting release octreotide

    Successful treatment of congenital hyperinsulinism with long-acting release octreotide di Kim‐Hanh Le Quan Sang, Jean‐Baptiste Arnoux, Asmaa Mamoune, Cécile Saint‐Martin, Christine Bellanné‐Chantelot, Vassili Valayannopoulos, Anaïs Brassier, Honorine Kayirangwa, Valérie Barbier, Christine Broissand, Jean-Roch Fabreguettes, Brigitte Charron, Jean‐Christophe Thalabard, Pascale de Lonlay

    Pubblicazione 2011
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  8. 8
    ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism

    ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism di Christine Bellanné‐Chantelot, Cécile Saint‐Martin, M.J. Santiago Ribeiro, Chantal Vaury, Virginie Verkarre, Jean‐Baptiste Arnoux, Vassili Valayannopoulos, Sandrine Gobrecht, Christine Sempoux, Jacques Rahier, Jean‐Christophe Fournet, Francis Jaubert, Y. Aigrain, Claire Nihoul‐Feketé, Pascale de Lonlay

    Pubblicazione 2010
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  9. 9
    Analysis of the Ten-Eleven Translocation 2 (TET2) gene in familial myeloproliferative neoplasms

    Analysis of the Ten-Eleven Translocation 2 (TET2) gene in familial myeloproliferative neoplasms di Cécile Saint‐Martin, Gwendoline Leroy, François Delhommeau, G. Panelatti, Sabrina Dupont, Chloé James, Isabelle Plo, Dominique Bordessoule, Christine Chomienne, André Delannoy, Alain Devidas, M Gardembas-Pain, Françoise Isnard, Yves Plumelle, Olivier Bernard, William Vainchenker, A Najman, Christine Bellanné‐Chantelot

    Pubblicazione 2009
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  10. 10
    Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

    Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome di Christel Depienne, Oriane Trouillard, Isabelle Gourfinkel‐An, Cécile Saint‐Martin, Delphine Bouteiller, Denis Graber, Marie‐Anne Barthez‐Carpentier, Agnès Gautier, Nathalie Villeneuve, Charlotte Dravet, Marie-Odile Livet, Clotilde Rivier-Ringenbach, Claude Adam, Sabrina Dupont, Stéphanie Baulac, Delphine Héron, Rima Nabbout, Eric Leguern

    Pubblicazione 2010
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  11. 11
    mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success

    mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success di Marie Szymanowski, Maria Salomon Estebanez, Raja Padidela, Bing Han, Karolina Mosinska, Adam Stevens, Léna Damaj, Florence Pihan‐Le Bars, Emilie Lascouts, Rachel Reynaud, Catherine Ferreira, Claire Bansept, Pascale de Lonlay, Cécile Saint‐Martin, Mark J. Dunne, Indraneel Banerjee, Jean‐Baptiste Arnoux

    Pubblicazione 2016
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  12. 12
    Clinical Characteristics and Diagnostic Criteria of Maturity-Onset Diabetes Of The Young (MODY) due to Molecular Anomalies of the HNF1A Gene

    Clinical Characteristics and Diagnostic Criteria of Maturity-Onset Diabetes Of The Young (MODY) due to Molecular Anomalies of the HNF1A Gene di Christine Bellanné‐Chantelot, D J Levy, Claire Carette, Cécile Saint‐Martin, Jean‐Pierre Riveline, Étienne Larger, René Valero, Jean‐François Gautier, Yves Reznik, Agnès Sola, A. Hartemann, Sandrine Laboureau-Soares, M. Laloi‐Michelin, Pierre Lecomte, Lucy Chaillous, Danièle Dubois‐Laforgue, José Timsit

    Pubblicazione 2011
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  13. 13
    Update of variants identified in the pancreatic β‐cell K <sub>ATP</sub> channel genes <i>KCNJ11</i> and <i>ABCC8</i> in individuals with congenital hyperinsulinism and diabetes

    Update of variants identified in the pancreatic β‐cell K <sub>ATP</sub> channel genes <i>KCNJ11</i> and <i>ABCC8</i> in individuals with congenital hyperinsulinism and diabetes di Elisa De Franco, Cécile Saint‐Martin, Klaus Brusgaard, Amy E. Knight Johnson, Lydia Aguilar‐Bryan, Pamela Bowman, Jean‐Baptiste Arnoux, Annette Rønholt Larsen, May Sanyoura, Siri Atma W. Greeley, Raúl Calzada‐León, Bradley Harman, Jayne Houghton, Elisa Nishimura‐Meguro, Thomas W. Laver, Sian Ellard, Daniela del Gaudio, Henrik Thybo Christesen, Christine Bellanné‐Chantelot, Sarah E. Flanagan

    Pubblicazione 2020
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  14. 14
    Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

    Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies di Joseph Saliba, Cécile Saint‐Martin, Antonio Di Stefano, Gaëlle Lenglet, Caroline Marty, Boris Keren, Florence Pasquier, Véronique Della Valle, Lise Secardin, Gwendoline Leroy, Emna Mahfoudhi, Sarah Grosjean, Nathalie Droin, M’Boyba Diop, Philippe Dessen, Sabine Charrier, Alberta Palazzo, Jane Merlevede, Jean-Côme Meniane, Christine Delaunay-Darivon, Pascal Fuseau, Françoise Isnard, Nicole Casadevall, Éric Solary, Najet Debili, Olivier Bernard, Hana Raslová, A Najman, William Vainchenker, Christine Bellanné‐Chantelot, Isabelle Plo

    Pubblicazione 2015
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  15. 15
    The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion

    The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion di Rinki Murphy, Kevin Colclough, Toni I. Pollin, Jennifer M. Iklé, Pernille Svalastoga, Kristin A. Maloney, Cécile Saint‐Martin, Janne Molnes, Deirdre K. Tobias, Jordi Merino, Abrar Ahmad, Catherine Aiken, Jamie L. Benham, Dhanasekaran Bodhini, Amy L. Clark, Kevin Colclough, Rosa Corcoy, Sara J. Cromer, Daisy Duan, Jamie L. Felton, Ellen C. Francis, Pieter Gillard, Véronique Gingras, Romy Gaillard, Eram Haider, Alice E. Hughes, Jennifer M. Iklé, Laura M. Jacobsen, Anna R. Kahkoska, Jarno L. T. Kettunen, Raymond J. Kreienkamp, Lee‐Ling Lim, Jonna M. E. Männistö, Robert Massey, Niamh‐Maire Mclennan, Rachel G. Miller, Mario Luca Morieri, Jasper Most, Rochelle N. Naylor, Bige Özkan, Kashyap Patel, Scott J. Pilla, Katsiaryna Prystupa, Sridaran Raghaven, Mary R. Rooney, Martin Schön, Zhila Semnani‐Azad, Magdalena Sevilla-González, Wubet Worku Takele, Claudia H.T. Tam, Anne Cathrine B. Thuesen, Mustafa Tosur, Amelia S. Wallace, Caroline C. Wang, Jessie J. Wong, Jennifer M. Yamamoto, Katherine Young, Chloé Amouyal, Mette K. Andersen, Maxine P. Bonham, Mingling Chen, Feifei Cheng, Tinashe Chikowore, Sian C. Chivers, Christoffer Clemmensen, Dana Dabelea, Adem Y. Dawed, Aaron J. Deutsch, Laura T. Dickens, Linda A. DiMeglio, Monika Dudenhöffer‐Pfeifer, Carmella Evans‐Molina, María Mercè Fernández-Balsells, Hugo Fitipaldi, Stephanie L. Fitzpatrick, Stephen E. Gitelman, Mark O. Goodarzi, Jessica A. Grieger, Marta Guasch‐Ferré, Nahal Habibi, Torben Hansen, Chuiguo Huang, Arianna Harris-Kawano, Heba M. Ismail, Benjamin Hoag, Randi K. Johnson, Angus G. Jones, Robert W. Koivula, Aaron Leong, Gloria K. W. Leung, Ingrid Libman, Kai Liu, S. Alice Long, William L. Lowe, Robert W. Morton, Ayesha A. Motala, Suna Önengüt-Gümüşcü, James S. Pankow, Maleesa Pathirana, Sofia Pazmino

    Pubblicazione 2023
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