Risultati della ricerca - Bellanné-Chantelot, Christine

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

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Clinical utility gene card for: Maturity-onset diabetes of the young di 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 di 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 di Bellanné-Chantelot, Christine, Mosca, Matthieu, Marty, Caroline, Favier, Rémi, Vainchenker, William, Plo, Isabelle

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Post‐COVID‐19 severe neutropenia di 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 di 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) di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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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