Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients
Cabagnols, Xénia, Favale, Fabrizia, Pasquier, Florence, Messaoudi, Kahia, Defour, Jean Philippe, Ianotto, Jean Christophe, Marzac, Christophe, Le Couédic, Jean Pierre, Droin, Nathalie, Chachoua, Ilyas, Favier, Remi, Diop, M'boyba Khadija, Ugo, Valérie, Casadevall, Nicole, Debili, Najet, Raslova, Hana, Bellanné-Chantelot, Christine, Constantinescu, Stefan N., Bluteau, Olivier, Plo, Isabelle, Vainchenker, William
Published in Blood (21.01.2016)
Published in Blood (21.01.2016)
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Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
Osbak, Kara K, Colclough, Kevin, Saint-Martin, Cecile, Beer, Nicola L, Bellanné-Chantelot, Christine, Ellard, Sian, Gloyn, Anna L
Published in Human mutation (01.11.2009)
Published in Human mutation (01.11.2009)
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Fertility and pregnancy outcomes in women with nonclassic 21‐hydroxylase deficiency
Carrière, Camille, Nguyen, Lee S., Courtillot, Carine, Tejedor, Isabelle, Chakhtoura, Zeina, Bellanné‐Chantelot, Christine, Tardy, Véronique, Leban, Monique, Touraine, Philippe, Bachelot, Anne
Published in Clinical endocrinology (Oxford) (01.03.2023)
Published in Clinical endocrinology (Oxford) (01.03.2023)
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Post‐COVID‐19 severe neutropenia
Bouslama, Boutheina, Pierret, Clément, Khelfaoui, Fatima, Bellanné‐Chantelot, Christine, Donadieu, Jean, Héritier, Sébastien
Published in Pediatric Blood & Cancer (01.05.2021)
Published in Pediatric Blood & Cancer (01.05.2021)
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CXCR4 WHIM syndrome is a cancer predisposition condition for virus‐induced malignancies
Moulin, Clémentine, Beaupain, Blandine, Suarez, Felipe, Bertrand, Yves, Beaussant, Sarah Cohen, Fischer, Alain, Durin, Julie, Ranta, Dana, Espéli, Marion, Bachelerie, Françoise, Bellanné‐Chantelot, Christine, Molina, Thierry, Emile, Jean François, Balabanian, Karl, Deback, Claire, Donadieu, Jean
Published in British journal of haematology (01.04.2024)
Published in British journal of haematology (01.04.2024)
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Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
De Franco, Elisa, Saint-Martin, Cécile, Brusgaard, Klaus, Knight Johnson, Amy E, Aguilar-Bryan, Lydia, Bowman, Pamela, Arnoux, Jean-Baptiste, Larsen, Annette Rønholt, Sanyoura, May, Greeley, Siri Atma W, Calzada-León, Raúl, Harman, Bradley, Houghton, Jayne A L, Nishimura-Meguro, Elisa, Laver, Thomas W, Ellard, Sian, Del Gaudio, Daniela, Christesen, Henrik Thybo, Bellanné-Chantelot, Christine, Flanagan, Sarah E
Published in Human mutation (01.05.2020)
Published in Human mutation (01.05.2020)
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Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
De Franco, Elisa, Saint‐Martin, Cécile, Brusgaard, Klaus, Knight Johnson, Amy E., Aguilar‐Bryan, Lydia, Bowman, Pamela, Arnoux, Jean‐Baptiste, Larsen, Annette Rønholt, May, Sanyoura, Greeley, Siri Atma W., Calzada‐León, Raúl, Harman, Bradley, Houghton, Jayne A. L., Nishimura‐Meguro, Elisa, Laver, Thomas W., Ellard, Sian, Gaudio, Daniela, Christesen, Henrik Thybo, Bellanné‐Chantelot, Christine, Flanagan, Sarah E.
Published in Human mutation (01.05.2020)
Published in Human mutation (01.05.2020)
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Leukaemic transformation in a 10‐year‐old girl with SRP54 congenital neutropenia
Calvo, Charlotte, Lainey, Elodie, Caye, Aurélie, Cuccuini, Wendy, Fenneteau, Odile, Yakouben, Karima, Bellanné‐Chantelot, Christine, Baruchel, André, Dalle, Jean‐Hugues, Leblanc, Thierry
Published in British journal of haematology (01.09.2022)
Published in British journal of haematology (01.09.2022)
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Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients
Donadieu, Jean, Lamant, Marie, Fieschi, Claire, de Fontbrune, Flore Sicre, Caye, Aurélie, Ouachee, Marie, Beaupain, Blandine, Bustamante, Jacinta, Poirel, Hélène A, Isidor, Bertrand, Van Den Neste, Eric, Neel, Antoine, Nimubona, Stanislas, Toutain, Fabienne, Barlogis, Vincent, Schleinitz, Nicolas, Leblanc, Thierry, Rohrlich, Pierre, Suarez, Felipe, Ranta, Dana, Chahla, Wadih Abou, Bruno, Bénédicte, Terriou, Louis, Francois, Sylvie, Lioure, Bruno, Ahle, Guido, Bachelerie, Françoise, Preudhomme, Claude, Delabesse, Eric, Cave, Hélène, Bellanné-Chantelot, Christine, Pasquet, Marlène
Published in Haematologica (Roma) (01.08.2018)
Published in Haematologica (Roma) (01.08.2018)
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NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience
Sabbagh, Audrey, Pasmant, Eric, Imbard, Apolline, Luscan, Armelle, Soares, Magali, Blanché, Hélène, Laurendeau, Ingrid, Ferkal, Salah, Vidaud, Michel, Pinson, Stéphane, Bellanné-Chantelot, Christine, Vidaud, Dominique, Parfait, Béatrice, Wolkenstein, Pierre
Published in Human mutation (01.11.2013)
Published in Human mutation (01.11.2013)
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Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome
Bellanné-Chantelot, Christine, Schmaltz-Panneau, Barbara, Marty, Caroline, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi-Laurent, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debré, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frédéric, Bensaid, Philippe, Boespflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Françoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachée, Marie, Pasquet, Marlène, Saada, Véronique, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, Donadieu, Jean
Published in Blood (20.09.2018)
Published in Blood (20.09.2018)
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Somatic genetic rescue of a germline ribosome assembly defect
Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., Revy, Patrick
Published in Nature communications (19.08.2021)
Published in Nature communications (19.08.2021)
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Congenital hyperinsulinism: current trends in diagnosis and therapy
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
Published in Orphanet journal of rare diseases (03.10.2011)
Published in Orphanet journal of rare diseases (03.10.2011)
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Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism
Saint‐Martin, Cécile, Cauchois‐Le Mière, Marine, Rex, Emily, Soukarieh, Omar, Arnoux, Jean‐Baptiste, Buratti, Julien, Bouvet, Delphine, Frébourg, Thierry, Gaildrat, Pascaline, Shyng, Show‐Ling, Bellanné‐Chantelot, Christine, Martins, Alexandra
Published in Human mutation (01.04.2021)
Published in Human mutation (01.04.2021)
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Heterozygous variants of CLPB are a cause of severe congenital neutropenia
Warren, Julia T., Cupo, Ryan R., Wattanasirakul, Peeradol, Spencer, David H., Locke, Adam E., Makaryan, Vahagn, Bolyard, Audrey Anna, Kelley, Merideth L., Kingston, Natalie L., Shorter, James, Bellanné-Chantelot, Christine, Donadieu, Jean, Dale, David C., Link, Daniel C.
Published in Blood (03.02.2022)
Published in Blood (03.02.2022)
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Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis
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
Published in The Journal of experimental medicine (12.03.2012)
Published in The Journal of experimental medicine (12.03.2012)
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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
Donath, Xavier, Saint-Martin, Cécile, Dubois-Laforgue, Danièle, Rajasingham, Ramanan, Mifsud, François, Ciangura, Cécile, Timsit, José, Bellanné-Chantelot, Christine
Published in BMC medicine (11.07.2019)
Published in BMC medicine (11.07.2019)
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Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome
Finch, Andrew J, Hilcenko, Christine, Basse, Nicolas, Drynan, Lesley F, Goyenechea, Beatriz, Menne, Tobias F, González Fernández, Africa, Simpson, Paul, D'Santos, Clive S, Arends, Mark J, Donadieu, Jean, Bellanné-Chantelot, Christine, Costanzo, Michael, Boone, Charles, McKenzie, Andrew N, Freund, Stefan M V, Warren, Alan J
Published in Genes & development (01.05.2011)
Published in Genes & development (01.05.2011)
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Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia
Schmaltz-Panneau, Barbara, Pagnier, Anne, Clauin, Séverine, Buratti, Julien, Marty, Caroline, Fenneteau, Odile, Dieterich, Klaus, Beaupain, Blandine, Donadieu, Jean, Plo, Isabelle, Bellanné-Chantelot, Christine
Published in Haematologica (Roma) (01.04.2021)
Published in Haematologica (Roma) (01.04.2021)
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