Søgeresultater - Bellannè-Chantelot, Christine

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  1. 1
    ATG2B and GSKIP: 2 new genes predisposing to myeloid malignancies

    ATG2B and GSKIP: 2 new genes predisposing to myeloid malignancies af Plo, Isabelle, Bellanné-Chantelot, Christine, Vainchenker, William

    Udgivet 2015
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  2. 2
    Clinical utility gene card for: Maturity-onset diabetes of the young

    Clinical utility gene card for: Maturity-onset diabetes of the young af Colclough, Kevin, Saint-Martin, Cécile, Timsit, José, Ellard, Sian, Bellanné-Chantelot, Christine

    Udgivet 2014
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  3. 3
    Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis

    Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis af Plo, Isabelle, Bellanné-Chantelot, Christine, Mosca, Matthieu, Mazzi, Stefania, Marty, Caroline, Vainchenker, William

    Udgivet 2017
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  4. 4
    Identification of MPL R102P Mutation in Hereditary Thrombocytosis

    Identification of MPL R102P Mutation in Hereditary Thrombocytosis af Bellanné-Chantelot, Christine, Mosca, Matthieu, Marty, Caroline, Favier, Rémi, Vainchenker, William, Plo, Isabelle

    Udgivet 2017
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  5. 5
    Post‐COVID‐19 severe neutropenia

    Post‐COVID‐19 severe neutropenia af Bouslama, Boutheina, Pierret, Clément, Khelfaoui, Fatima, Bellanné‐Chantelot, Christine, Donadieu, Jean, Héritier, Sébastien

    Udgivet 2020
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  6. 6
    Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges

    Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges af Timsit, José, Ciangura, Cécile, Dubois-Laforgue, Danièle, Saint-Martin, Cécile, Bellanne-Chantelot, Christine

    Udgivet 2022
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  7. 7
    Long-Term Follow-Up of Oral Glucose Tolerance Test–Derived Glucose Tolerance and Insulin Secretion and Insulin Sensitivity Indexes in Subjects With Glucokinase Mutations (MODY2)

    Long-Term Follow-Up of Oral Glucose Tolerance Test–Derived Glucose Tolerance and Insulin Secretion and Insulin Sensitivity Indexes in Subjects With Glucokinase Mutations (MODY2) af Martin, Delphine, Bellanné-Chantelot, Christine, Deschamps, Inge, Froguel, Philippe, Robert, Jean-Jacques, Velho, Gilberto

    Udgivet 2008
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  8. 8
    Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life

    Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life af Sarfati, Julie, Vatier, Camille, Keller, Isabelle, Guéchot, Jérome, Bellanné-Chantelot, Christine, Christin-Maitre, Sophie

    Udgivet 2018
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  9. 9
    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 af Donath, Xavier, Saint-Martin, Cécile, Dubois-Laforgue, Danièle, Rajasingham, Ramanan, Mifsud, François, Ciangura, Cécile, Timsit, José, Bellanné-Chantelot, Christine

    Udgivet 2019
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  10. 10
    Extent of hematopoietic involvement by TET2 mutations in JAK2(V617F) polycythemia vera

    Extent of hematopoietic involvement by TET2 mutations in JAK2(V617F) polycythemia vera af Swierczek, Sabina I., Yoon, Donghoon, Bellanné-Chantelot, Christine, Kim, Soo Jin, Saint-Martin, Cécile, Delhommeau, Francois, Najman, Albert, Prchal, Josef T.

    Udgivet 2011
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  11. 11
    In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions

    In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions af Henquin, Jean-Claude, Nenquin, Myriam, Sempoux, Christine, Guiot, Yves, Bellanné-Chantelot, Christine, Otonkoski, Timo, de Lonlay, Pascale, Nihoul-Fékété, Claire, Rahier, Jacques

    Udgivet 2011
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  12. 12
    Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion

    Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion af González-Barroso, M. Mar, Giurgea, Irina, Bouillaud, Fredéric, Anedda, Andrea, Bellanné-Chantelot, Christine, Hubert, Laurence, de Keyzer, Yves, de Lonlay, Pascale, Ricquier, Daniel

    Udgivet 2008
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  13. 13
    Incretin Effect of Glucagon-Like Peptide 1 Receptor Agonist Is Preserved in Presence of ABCC8/SUR1 Mutation in β-Cell

    Incretin Effect of Glucagon-Like Peptide 1 Receptor Agonist Is Preserved in Presence of ABCC8/SUR1 Mutation in β-Cell af Bourron, Olivier, Chebbi, Fatma, Halbron, Marine, Saint-Martin, Cécile, Bellanné-Chantelot, Christine, Abed, Ahmed, Charbit, Beny, Magnan, Christophe, Lacorte, J.M., Hartemann, Agnès

    Udgivet 2012
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  14. 14
    Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism

    Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism af Saint-Martin, Cécile, Zhou, Qing, Martin, Gregory M., Vaury, Christelle, Leroy, Gwendoline, Arnoux, Jean-Baptiste, de Lonlay, Pascale, Shyng, Show-Ling, Bellanné-Chantelot, Christine

    Udgivet 2014
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  15. 15
    Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

    Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia af Schmaltz-Panneau, Barbara, Pagnier, Anne, Clauin, Séverine, Buratti, Julien, Marty, Caroline, Fenneteau, Odile, Dieterich, Klaus, Beaupain, Blandine, Donadieu, Jean, Plo, Isabelle, Bellanné-Chantelot, Christine

    Udgivet 2021
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  16. 16
    New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis

    New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis af Pasquier, Florence, Marty, Caroline, Balligand, Thomas, Verdier, Frédérique, Grosjean, Sarah, Gryshkova, Vitalina, Raslova, Hana, Constantinescu, Stefan N., Casadevall, Nicole, Vainchenker, William, Bellanné-Chantelot, Christine, Plo, Isabelle

    Udgivet 2018
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  17. 17
    Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia:: A multicenter Italian study of 172 families

    Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia:: A multicenter Italian study of 172 families af Lorini, Renata, Klersy, Catherine, d'Annunzio, Giuseppe, Massa, Ornella, Minuto, Nicola, Iafusco, Dario, Bellannè-Chantelot, Christine, Frongia, Anna Paola, Toni, Sonia, Meschi, Franco, Cerutti, Franco, Barbetti, Fabrizio

    Udgivet 2009
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  18. 18
    New somatic BRAF splicing mutation in Langerhans cell histiocytosis

    New somatic BRAF splicing mutation in Langerhans cell histiocytosis af Héritier, Sébastien, Hélias-Rodzewicz, Zofia, Chakraborty, Rikhia, Sengal, Amel G., Bellanné-Chantelot, Christine, Thomas, Caroline, Moreau, Anne, Fraitag, Sylvie, Allen, Carl E., Donadieu, Jean, Emile, Jean-François

    Udgivet 2017
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  19. 19
    In Vitro Recovery of ATP-Sensitive Potassium Channels in β-Cells From Patients With Congenital Hyperinsulinism of Infancy

    In Vitro Recovery of ATP-Sensitive Potassium Channels in β-Cells From Patients With Congenital Hyperinsulinism of Infancy af Powell, Philippa D., Bellanné-Chantelot, Christine, Flanagan, Sarah E., Ellard, Sian, Rooman, Raoul, Hussain, Khalid, Skae, Mars, Clayton, Peter, de Lonlay, Pascale, Dunne, Mark J., Cosgrove, Karen E.

    Udgivet 2011
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  20. 20
    Congenital hyperinsulinism: current trends in diagnosis and therapy

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

    Udgivet 2011
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