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Somatic genetic rescue of a germline ribosome assembly defect
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-08, Vol.12 (1), p.5044-5044, Article 5044
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Congenital hyperinsulinism: current trends in diagnosis and therapy
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2011-10, Vol.6 (1), p.63-63, Article 63
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HSCT may lower leukemia risk in ELANE neutropenia: a before–after study from the French Severe Congenital Neutropenia Registry
Author / Creator:Rotulo, Gioacchino Andrea ; Beaupain, Blandine ; Rialland, Fanny ; Paillard, Catherine ; Nachit, Ouahiba ; Galambrun, Claire ; Gandemer, Virginie ; Bertrand, Yves ; Neven, Benedicte ; Dore, Eric ; Moshous, Despina ; Filhon, Bruno ; Aladjdi, Nathalie ; Sicre de Fontbrune, Flore ; de la Tour, Regis Peffault ; Ouachee, Marie ; Bellanne-Chantelot, Christine ; Dalle, Jean-Hugues ; Donadieu, Jean
Publisher:London: Nature Publishing Group UK
Journal title:Bone marrow transplantation (Basingstoke), 2020-08, Vol.55 (8), p.1614-1622
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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
Author / Creator:Donath, Xavier ; Saint-Martin, Cécile ; Dubois-Laforgue, Danièle ; Rajasingham, Ramanan ; Mifsud, François ; Ciangura, Cécile ; Timsit, José ; Bellanné-Chantelot, Christine
Publisher:England: BioMed Central Ltd
Journal title:BMC medicine, 2019-07, Vol.17 (1), p.132-132, Article 132
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Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms
Author / Creator:Pegliasco, Jean ; Hirsch, Pierre ; Marzac, Christophe ; Isnard, Françoise ; Meniane, Jean-Côme ; Deswarte, Caroline ; Pellet, Philippe ; Lemaitre, Céline ; Leroy, Gwendoline ; Rabadan Moraes, Graciela ; Guermouche, Hélène ; Schmaltz-Panneau, Barbara ; Pasquier, Florence ; Colas, Chrystelle ; Benusiglio, Patrick R. ; Bera, Odile ; Bourhis, Jean-Henri ; Brissot, Eolia ; Caron, Olivier ; Chraibi, Samy ; Cony-Makhoul, Pascale ; Delaunay-Darivon, Christine ; Lapusan, Simona ; de Fontbrune, Flore Sicre ; Fuseau, Pascal ; Najman, Albert ; Vainchenker, William ; Delhommeau, François ; Micol, Jean-Baptiste ; Plo, Isabelle ; Bellanné-Chantelot, Christine
Publisher:London: Nature Publishing Group UK
Journal title:Leukemia, 2022-01, Vol.36 (1), p.126-137
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Clinical spectrum associated with hepatocyte nuclear factor-1β mutations
Author / Creator:BELLANNE-CHANTELOT, Christine ; CHAUVEAU, Dominique ; TIMSIT, Josh ; GAUTIER, Jean-Francois ; DUBOIS-LAFORGUE, Danièle ; CLAUIN, Séverine ; BEAUFILS, Sandrine ; WILHELM, Jean-Marie ; BOITARD, Christian ; NOËL, Laure-Hélène ; VELHO, Gilberto
Publisher:Philadelphia, PA: American College of Physicians
Journal title:Annals of internal medicine, 2004-04, Vol.140 (7), p.510-517
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Variants influencing age at diagnosis of HNF1A-MODY
Author / Creator: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
Publisher:England: BioMed Central
Journal title:Molecular medicine (Cambridge, Mass.), 2022-09, Vol.28 (1), p.113-113, Article 113
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Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry
Author / Creator:Beaussant Cohen, Sarah ; Fenneteau, Odile ; Plouvier, Emmanuel ; Rohrlich, Pierre-Simon ; Daltroff, Gerard ; Plantier, Isabelle ; Dupuy, Alain ; Kerob, Delphine ; Beaupain, Blandine ; Bordigoni, Pierre ; Fouyssac, Fanny ; Delezoide, Anne-Lise ; Devouassoux, Gilles ; Nicolas, Jean François ; Bensaid, Philippe ; Bertrand, Yves ; Balabanian, Karl ; Chantelot, Christine Bellanne ; Bachelerie, Françoise ; Donadieu, Jean
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-09, Vol.7 (1), p.71-71, Article 71
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The Type and the Position of HNF1A Mutation Modulate Age at Diagnosis of Diabetes in Patients with Maturity-Onset Diabetes of the Young (MODY)-3
Author / Creator:BELLANNE-CHANTELOT, Christine ; CARETTE, Claire ; LECOMTE, Pierre ; CHAILLOUS, Lucy ; LALOI-MICHEFIN, Marie ; WILHEM, Jean-Marie ; CUNY, Pierre ; DURON, Francoise ; GUERCI, Bruno ; JEANDIDIER, Nathalie ; MOSNIER-PUDAR, Helen ; ASSAYAG, Michel ; RIVELINE, Jean-Pierre ; DUBOIS-LAFORGUE, Danièle ; VELHO, Gilberto ; TIMSIT, José ; VALERO, René ; GAUTIER, Jean-Francois ; LARGER, Etienne ; REZNIK, Yves ; DUCLUZEAU, Pierre-Henri ; SOLA, Agnès ; HARTEMANN-HEURTIER, Agnès
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 2008-02, Vol.57 (2), p.503-508
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New somatic BRAF splicing mutation in Langerhans cell histiocytosis
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Molecular cancer, 2017-07, Vol.16 (1), p.115-115, Article 115
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Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2010-10, Vol.5 (10), p.e13630-e13630
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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)
Author / Creator:Martin, Delphine ; Bellanné-Chantelot, Christine ; Deschamps, Inge ; Froguel, Philippe ; Robert, Jean-Jacques ; Velho, Gilberto
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes care, 2008-07, Vol.31 (7), p.1321-1323
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Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion
Author / Creator:González-Barroso, M Mar ; Giurgea, Irina ; Bouillaud, Fredéric ; Anedda, Andrea ; Bellanné-Chantelot, Christine ; Hubert, Laurence ; de Keyzer, Yves ; de Lonlay, Pascale ; Ricquier, Daniel
Publisher:United States: Public Library of Science
Journal title:PloS one, 2008-12, Vol.3 (12), p.e3850-e3850
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Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry
Author / Creator:Desplantes, Claire ; Fremond, Marie Louise ; Beaupain, Blandine ; Harousseau, Jean Luc ; Buzyn, Agnès ; Pellier, Isabelle ; Roques, Gaelle ; Morville, Pierre ; Paillard, Catherine ; Bruneau, Julie ; Pinson, Lucile ; Jeziorski, Eric ; Vannier, Jean Pierre ; Picard, Capucine ; Bellanger, Florence ; Romero, Norma ; de Pontual, Loïc ; Lapillonne, Hélène ; Lutz, Patrick ; Chantelot, Christine Bellanné ; Donadieu, Jean
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-12, Vol.9 (1), p.183-183, Article 183
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Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1β (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5
Author / Creator:BELLANNE-CHANTELOT, Christine ; CLAUIN, Séverine ; LALOI-MICHELIN, Marie ; JACQUESSON, Laetitia ; LARGER, Etienne ; LOUIS, Jacques ; NICOLINO, Marc ; SUBRA, Jean-Francois ; WILHEM, Jean-Marie ; YOUNG, Jacques ; VELHO, Gilberto ; TIMSIT, José ; CHAUVEAU, Dominique ; COLLIN, Philippe ; DAUMONT, Michèle ; DOUILLARD, Claire ; DUBOIS-LAFORGUE, Danièle ; DUSSELIER, Laurent ; GAUTIER, Jean-Francois ; JADOUL, Michel
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 2005-11, Vol.54 (11), p.3126-3132
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NF1 single and multi-exons copy number variations in neurofibromatosis type 1
Author / Creator:Imbard, Apolline ; Pasmant, Eric ; Sabbagh, Audrey ; Luscan, Armelle ; Soares, Magali ; Goussard, Philippe ; Blanché, Hélène ; Laurendeau, Ingrid ; Ferkal, Salah ; Vidaud, Michel ; Pinson, Stéphane ; Bellanne-Chantelot, Christine ; Vidaud, Dominique ; Wolkenstein, Pierre ; Parfait, Béatrice
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2015-04, Vol.60 (4), p.221-224
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The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay
Author / Creator:HARRIES, L. W ; BINGHAM, Coralie ; BELLANNE-CHANTELOT, Christine ; HATTERSLEY, A. T ; ELLARD, Sian
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2005-11, Vol.118 (2), p.214-224
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Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia
Author / Creator:ROBINS, Tiina ; BELLANNE-CHANTELOT, Christine ; BARBARO, Michela ; CABROL, Sylvie ; WEDELL, Anna ; LAJIC, Svetlana
Publisher:Berlin: Springer
Journal title:Journal of molecular medicine (Berlin, Germany), 2007-03, Vol.85 (3), p.247-255
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Congenital neutropenia: diagnosis, molecular bases and patient management
Author / Creator:Donadieu, Jean ; Fenneteau, Odile ; Beaupain, Blandine ; Mahlaoui, Nizar ; Chantelot, Christine Bellanné
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2011-05, Vol.6 (1), p.26-26
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Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays
Author / Creator:Bouvet, Delphine ; Blondel, Amélie ; de Sainte Agathe, Jean-Madeleine ; Leroy, Gwendoline ; Saint-Martin, Cécile ; Bellanné-Chantelot, Christine
Publisher:Hoboken: Hindawi
Journal title:Human mutation, 2023-08, Vol.2023, p.1-13
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Somatic genetic rescue of a germline ribosome assembly defect

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Congenital hyperinsulinism: current trends in diagnosis and therapy

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HSCT may lower leukemia risk in ELANE neutropenia: a before–after study from the French Severe Congenital Neutropenia Registry

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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

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Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms

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Clinical spectrum associated with hepatocyte nuclear factor-1β mutations

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Variants influencing age at diagnosis of HNF1A-MODY

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Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

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The Type and the Position of HNF1A Mutation Modulate Age at Diagnosis of Diabetes in Patients with Maturity-Onset Diabetes of the Young (MODY)-3

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New somatic BRAF splicing mutation in Langerhans cell histiocytosis

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

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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)

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

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Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry

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Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1β (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5

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NF1 single and multi-exons copy number variations in neurofibromatosis type 1

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The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay

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Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia

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Congenital neutropenia: diagnosis, molecular bases and patient management

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Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays

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