Identification of MPL R102P Mutation in Hereditary Thrombocytosis

by Christine Bellanné-Chantelot, Christine Bellanné-Chantelot, Matthieu Mosca, Matthieu Mosca, Matthieu Mosca, Caroline Marty, Caroline Marty, Caroline Marty, Rémi Favier, Rémi Favier, William Vainchenker, William Vainchenker, William Vainchenker, Isabelle Plo, Isabelle Plo, Isabelle Plo
Published 2017-09-01

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

by Isabelle Plo, Isabelle Plo, Isabelle Plo, Christine Bellanné-Chantelot, Christine Bellanné-Chantelot, Matthieu Mosca, Matthieu Mosca, Matthieu Mosca, Stefania Mazzi, Stefania Mazzi, Stefania Mazzi, Caroline Marty, Caroline Marty, Caroline Marty, William Vainchenker, William Vainchenker, William Vainchenker
Published 2017-09-01

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

by M Mar González-Barroso, Irina Giurgea, Fredéric Bouillaud, Andrea Anedda, Christine Bellanné-Chantelot, Laurence Hubert, Yves de Keyzer, Pascale de Lonlay, Daniel Ricquier
Published 2008-01-01

New somatic BRAF splicing mutation in Langerhans cell histiocytosis

by Sébastien Héritier, Zofia Hélias-Rodzewicz, Rikhia Chakraborty, Amel G. Sengal, Christine Bellanné-Chantelot, Caroline Thomas, Anne Moreau, Sylvie Fraitag, Carl E. Allen, Jean Donadieu, Jean-François Emile
Published 2017-07-01

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

by Xavier Donath, Cécile Saint-Martin, Danièle Dubois-Laforgue, Ramanan Rajasingham, François Mifsud, Cécile Ciangura, José Timsit, Christine Bellanné-Chantelot, on behalf of the Monogenic Diabetes Study Group of the Société Francophone du Diabète
Published 2019-07-01

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

by Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, Franck De Graeve, Sophie Gallina, Kanetee Busiah, Stéphane Lobbens, Albane Simon, Christine Bellanné-Chantelot, Louis Létourneau, Raphael Scharfmann, Jérôme Delplanque, Robert Sladek, Michel Polak, Martine Vaxillaire, Philippe Froguel
Published 2010-10-01

Somatic genetic rescue of a germline ribosome assembly defect

by Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy
Published 2021-08-01