Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis

por Plo, Isabelle, Bellanné-Chantelot, Christine, Mosca, Matthieu, Mazzi, Stefania, Marty, Caroline, Vainchenker, William
Publicado 2017

Identification of MPL R102P Mutation in Hereditary Thrombocytosis

por Bellanné-Chantelot, Christine, Mosca, Matthieu, Marty, Caroline, Favier, Rémi, Vainchenker, William, Plo, Isabelle
Publicado 2017

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

por Timsit, José, Ciangura, Cécile, Dubois-Laforgue, Danièle, Saint-Martin, Cécile, Bellanne-Chantelot, Christine
Publicado 2022

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)

por Martin, Delphine, Bellanné-Chantelot, Christine, Deschamps, Inge, Froguel, Philippe, Robert, Jean-Jacques, Velho, Gilberto
Publicado 2008

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

por Sarfati, Julie, Vatier, Camille, Keller, Isabelle, Guéchot, Jérome, Bellanné-Chantelot, Christine, Christin-Maitre, Sophie
Publicado 2018

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

por Donath, Xavier, Saint-Martin, Cécile, Dubois-Laforgue, Danièle, Rajasingham, Ramanan, Mifsud, François, Ciangura, Cécile, Timsit, José, Bellanné-Chantelot, Christine
Publicado 2019

Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion

por González-Barroso, M. Mar, Giurgea, Irina, Bouillaud, Fredéric, Anedda, Andrea, Bellanné-Chantelot, Christine, Hubert, Laurence, de Keyzer, Yves, de Lonlay, Pascale, Ricquier, Daniel
Publicado 2008

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

por Bourron, Olivier, Chebbi, Fatma, Halbron, Marine, Saint-Martin, Cécile, Bellanné-Chantelot, Christine, Abed, Ahmed, Charbit, Beny, Magnan, Christophe, Lacorte, J.M., Hartemann, Agnès
Publicado 2012

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

por Schmaltz-Panneau, Barbara, Pagnier, Anne, Clauin, Séverine, Buratti, Julien, Marty, Caroline, Fenneteau, Odile, Dieterich, Klaus, Beaupain, Blandine, Donadieu, Jean, Plo, Isabelle, Bellanné-Chantelot, Christine
Publicado 2021

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

por 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
Publicado 2018

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

por 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
Publicado 2009

New somatic BRAF splicing mutation in Langerhans cell histiocytosis

por 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
Publicado 2017

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

por 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.
Publicado 2011

Congenital hyperinsulinism: current trends in diagnosis and therapy

por 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
Publicado 2011

Familial Focal Congenital Hyperinsulinism

por Ismail, Dunia, Smith, Virpi V., de Lonlay, Pascale, Ribeiro, Maria-Joao, Rahier, Jacques, Blankenstein, Oliver, Flanagan, Sarah E., Bellanné-Chantelot, Christine, Verkarre, Virginie, Aigrain, Yves, Pierro, Agostino, Ellard, Sian, Hussain, Khalid
Publicado 2011

Biallelic CXCR2 loss-of-function mutations define a distinct congenital neutropenia entity

por Marin-Esteban, Viviana, Youn, Jenny, Beaupain, Blandine, Jaracz-Ros, Agnieszka, Barlogis, Vincent, Fenneteau, Odile, Leblanc, Thierry, Bellanger, Florence, Pellet, Philippe, Buratti, Julien, Lapillonne, Hélène, Bachelerie, Françoise, Donadieu, Jean, Bellanné-Chantelot, Christine
Publicado 2021

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

por Bonnefond, Amélie, Durand, Emmanuelle, Sand, Olivier, De Graeve, Franck, Gallina, Sophie, Busiah, Kanetee, Lobbens, Stéphane, Simon, Albane, Bellanné-Chantelot, Christine, Létourneau, Louis, Scharfmann, Raphael, Delplanque, Jérôme, Sladek, Robert, Polak, Michel, Vaxillaire, Martine, Froguel, Philippe
Publicado 2010

Lymphoid differentiation of hematopoietic stem cells requires efficient Cxcr4 desensitization

por Freitas, Christelle, Wittner, Monika, Nguyen, Julie, Rondeau, Vincent, Biajoux, Vincent, Aknin, Marie-Laure, Gaudin, Françoise, Beaussant-Cohen, Sarah, Bertrand, Yves, Bellanné-Chantelot, Christine, Donadieu, Jean, Bachelerie, Françoise, Espéli, Marion, Dalloul, Ali, Louache, Fawzia, Balabanian, Karl
Publicado 2017

Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis

por Jaeger, Baptiste N., Donadieu, Jean, Cognet, Céline, Bernat, Claire, Ordoñez-Rueda, Diana, Barlogis, Vincent, Mahlaoui, Nizar, Fenis, Aurore, Narni-Mancinelli, Emilie, Beaupain, Blandine, Bellanné-Chantelot, Christine, Bajénoff, Marc, Malissen, Bernard, Malissen, Marie, Vivier, Eric, Ugolini, Sophie
Publicado 2012

Variants influencing age at diagnosis of HNF1A-MODY

por Ludwig-Słomczyńska, Agnieszka H., Seweryn, Michał T., Radkowski, Piotr, Kapusta, Przemysław, Machlowska, Julita, Pruhova, Stepanka, Gasperikova, Daniela, Bellanne-Chantelot, Christine, Hattersley, Andrew, Kandasamy, Balamurugan, Letourneau-Freiberg, Lisa, Philipson, Louis, Doria, Alessandro, Wołkow, Paweł P., Małecki, Maciej T., Klupa, Tomasz
Publicado 2022