Clinical utility gene card for: Maturity-onset diabetes of the young

af Colclough, Kevin, Saint-Martin, Cécile, Timsit, José, Ellard, Sian, Bellanné-Chantelot, Christine
Udgivet 2014

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

af Donath, Xavier, Saint-Martin, Cécile, Dubois-Laforgue, Danièle, Rajasingham, Ramanan, Mifsud, François, Ciangura, Cécile, Timsit, José, Bellanné-Chantelot, Christine
Udgivet i BMC Med (2019)

Extent of hematopoietic involvement by TET2 mutations in JAK2(V617F) polycythemia vera

af Swierczek, Sabina I., Yoon, Donghoon, Bellanné-Chantelot, Christine, Kim, Soo Jin, Saint-Martin, Cécile, Delhommeau, Francois, Najman, Albert, Prchal, Josef T.
Udgivet 2011

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

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

Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism

af Saint-Martin, Cécile, Zhou, Qing, Martin, Gregory M., Vaury, Christelle, Leroy, Gwendoline, Arnoux, Jean-Baptiste, de Lonlay, Pascale, Shyng, Show-Ling, Bellanné-Chantelot, Christine
Udgivet i Clin Genet (2014)

Congenital hyperinsulinism: current trends in diagnosis and therapy

af 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
Udgivet 2011

Biological Behaviors of Mutant Proinsulin Contribute to the Phenotypic Spectrum of Diabetes Associated with Insulin Gene Mutations

af Wang, Heting, Saint-Martin, Cécile, Xu, Jialu, Ding, Li, Wang, Ruodan, Feng, Wenli, Liu, Ming, Shu, Hua, Fan, Zhenqian, Haataja, Leena, Arvan, Peter, Bellanné-Chantelot, Christine, Cui, Jingqiu, Huang, Yumeng
Udgivet i Mol Cell Endocrinol (2020)

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis...

af 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
Udgivet i Hum Mutat (2021)

The common HNF1A variant I27L is a modifier of age at diabetes diagnosis in HNF1A-MODY individuals

af Locke, Jonathan M, Saint-Martin, Cécile, Laver, Thomas W, Patel, Kashyap A, Wood, Andrew R, Sharp, Seth A, Ellard, Sian, Bellanné-Chantelot, Christine, Hattersley, Andrew T, Harries, Lorna W, Weedon, Michael N
Udgivet i Diabetes (2018)

Update of variants identified in the pancreatic β‐cell K(ATP) channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

af 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.
Udgivet i Hum Mutat (2020)

School level of children carrying a HNF1B variant or a deletion

af Laliève, Fanny, Decramer, Stéphane, Heidet, Laurence, Baudouin, Véronique, Lahoche, Annie, Llanas, Brigitte, Cochat, Pierre, Tenenbaum, Julie, Lavocat, Marie-Pierre, Eckart, Philippe, Broux, Françoise, Roussey, Gwenaelle, Cloarec, Sylvie, Vrillon, Isabelle, Dunand, Olivier, Bessenay, Lucie, Tsimaratos, Michel, Nobili, François, Pietrement, Christine, De Parscau, Loïc, Bonneville, Valérie, Rodier, Nicolas, Saint-Martin, Cécile, Chassaing, Nicolas, Michel-Calemard, Laurence, Moriniere, Vincent, Bellanné-Chantelot, Christine, Bahans, Claire, Guigonis, Vincent
Udgivet i Eur J Hum Genet (2019)