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Valérie Senée
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Journal Articles

dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure

Free
Reinaldo Sousa Dos Santos, Mathilde Daures, Anne Philippi, Sophie Romero, Lorella Marselli, Piero Marchetti, Valérie Senée, Delphine Bacq, Céline Besse, Baz Baz, Laura Marroquí, Sarah Ivanoff, Julien Masliah-Planchon, Marc Nicolino, Jean Soulier, Gérard Socié, Decio L. Eizirik, Jean-François Gautier, Cécile Julier
Journal: Diabetes
Diabetes 2017;66(4):1086–1096
https://doi.org/10.2337/db16-0839
Published: 10 January 2017
View articletitled, dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure
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Includes: Supplementary data
Journal Articles

A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

Free
Baroj Abdulkarim, Marc Nicolino, Mariana Igoillo-Esteve, Mathilde Daures, Sophie Romero, Anne Philippi, Valérie Senée, Miguel Lopes, Daniel A. Cunha, Heather P. Harding, Céline Derbois, Nathalie Bendelac, Andrew T. Hattersley, Décio L. Eizirik, David Ron, Miriam Cnop, Cécile Julier
Journal: Diabetes
Diabetes 2015;64(11):3951–3962
https://doi.org/10.2337/db15-0477
Published: 09 July 2015
View articletitled, A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly
Open the PDF for A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly in another window
Includes: Supplementary data
Journal Articles

A Novel Hypomorphic PDX1 Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine Deficiency

Open Access
Marc Nicolino, Kathryn C. Claiborn, Valérie Senée, Anne Boland, Doris A. Stoffers, Cécile Julier
Journal: Diabetes
Diabetes 2010;59(3):733–740
https://doi.org/10.2337/db09-1284
Published: 15 December 2009
View articletitled, A Novel Hypomorphic PDX1 Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine Deficiency
Open the PDF for A Novel Hypomorphic PDX1 Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine Deficiency in another window
Includes: Supplementary data