Хайлтын үр дүнгүүд - Bellannè-Chantelot, Christine

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

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

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

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

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

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

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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) -н Martin, Delphine, Bellanné-Chantelot, Christine, Deschamps, Inge, Froguel, Philippe, Robert, Jean-Jacques, Velho, Gilberto

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

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

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

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

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

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

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

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

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New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis -н 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

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Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia:: A multicenter Italian study of 172 families -н 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

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New somatic BRAF splicing mutation in Langerhans cell histiocytosis -н 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

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

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Congenital hyperinsulinism: current trends in diagnosis and therapy -н 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

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