OpenURL Connection Search

Select item for more details and to access through your institution.

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.
Published in:
Nature Genetics, 2006, v. 38, n. 6, p. 682, doi. 10.1038/ng1802
By:
- Senée, Valérie;
- Chelala, Claude;
- Duchatelet, Sabine;
- Daorong Feng;
- Blanc, Hervé;
- Cossec, Jack-Christophe;
- Charon, Céline;
- Nicolino, Marc;
- Boileau, Pascal;
- Cavener, Douglas R.;
- Bougnères, Pierre;
- Taha, Doris;
- Julier, Cécile
Publication type:
Article
Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome.
Published in:
Reviews in Endocrine & Metabolic Disorders, 2024, v. 25, n. 5, p. 827, doi. 10.1007/s11154-024-09894-w
By:
- Perge, Kevin;
- Capel, Emilie;
- Senée, Valérie;
- Julier, Cécile;
- Vigouroux, Corinne;
- Nicolino, Marc
Publication type:
Article
A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 140, doi. 10.1038/ejhg.2013.87
By:
- Sanyoura, May;
- Woudstra, Cédric;
- Halaby, George;
- Baz, Patrick;
- Senée, Valérie;
- Guillausseau, Pierre-Jean;
- Zalloua, Pierre;
- Julier, Cécile
Publication type:
Article
DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.
Published in:
European Journal of Endocrinology, 2021, v. 184, n. 3, p. 459, doi. 10.1530/EJE-20-0636
By:
- Lytrivi, Maria;
- Senée, Valérie;
- Salpea, Paraskevi;
- Fantuzzi, Federica;
- Philippi, Anne;
- Abdulkarim, Baroj;
- Toshiaki Sawatani;
- Marín-Cañas, Sandra;
- Pachera, Nathalie;
- Degavre, Anne;
- Singh, Pratibha;
- Derbois, Céline;
- Lechner, Doris;
- Ladrière, Laurence;
- Igoillo-Esteve, Mariana;
- Cosentino, Cristina;
- Marselli, Lorella;
- Deleuze, Jean-François;
- Marchetti, Piero;
- Eizirik, Décio L.
Publication type:
Article
Wolcott-Rallison Syndrome.
Published in:
Diabetes, 2004, v. 53, n. 7, p. 1876, doi. 10.2337/diabetes.53.7.1876
By:
- Senée, Valérie;
- Julier, Cécile;
- Vattem, Krishna M.;
- Wek, Ronald C.;
- Delépine, Marc;
- Lathrop, G. Mark;
- Rainbow, Lynn A.;
- Haton, Céline;
- Diatloff-Zito, Catherine;
- Lecoq, Annick;
- Nicolino, Marc;
- Shaw, Nick J.;
- Robert, Jean-Jacques;
- Rooman, Raoul;
- Michaud, Jacques L.;
- Bin-Abbas, Bassan;
- Taha, Doris;
- Zabel, Bernard;
- Franceschini, Piergiorgio;
- Topaloglu, A. Kemal
Publication type:
Article
Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases.
Published in:
Pediatric Diabetes, 2015, v. 16, n. 7, p. 510, doi. 10.1111/pedi.12201
By:
- Collardeau‐Frachon, Sophie;
- Vasiljevic, Alexandre;
- Jouvet, Anne;
- Bouvier, Raymonde;
- Senée, Valérie;
- Nicolino, Marc
Publication type:
Article
Wolcott–Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.
Published in:
Pediatric Diabetes, 2010, v. 11, n. 4, p. 279, doi. 10.1111/j.1399-5448.2009.00591.x
By:
- Ozbek, M. Nuri;
- Senée, Valérie;
- Aydemir, Sehnaz;
- Kotan, L. Damla;
- Mungan, Neslihan O.;
- Yuksel, Bilgin;
- Julier, Cécile;
- Topaloglu, A. Kemal
Publication type:
Article
Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation.
Published in:
Genes, 2017, v. 8, n. 11, p. 309, doi. 10.3390/genes8110309
By:
- Lenfant, Caroline;
- Baz, Patrick;
- Degavre, Anne;
- Philippi, Anne;
- Senée, Valérie;
- Vandiedonck, Claire;
- Derbois, Céline;
- Nicolino, Marc;
- Zalloua, Pierre;
- Julier, Cécile
Publication type:
Article
Abnormal FGFR 3 Expression in Cartilage of Thanatophoric Dysplasia Fetuses.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 11, p. 1899, doi. 10.1093/hmg/6.11.1899
By:
- Delezoide, Anne-Lise;
- Lasselin-Benoist, Catherine;
- Legeai-Mallet, Laurence;
- Brice, Peggy;
- Senée, Valérie;
- Yayon, Avner;
- Munnich, Arnold;
- Vekemans, Michel;
- Bonaventure, Jacky
Publication type:
Article
dUTPase ( ) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.
Published in:
2017
By:
- Dos Santos, Reinaldo Sousa;
- Daures, Mathilde;
- Philippi, Anne;
- Romero, Sophie;
- Marselli, Lorella;
- Marchetti, Piero;
- Senée, Valérie;
- Bacq, Delphine;
- Besse, Céline;
- Baz, Baz;
- Marroquí, Laura;
- Ivanoff, Sarah;
- Masliah-Planchon, Julien;
- Nicolino, Marc;
- Soulier, Jean;
- Socié, Gérard;
- Eizirik, Decio L.;
- Gautier, Jean-François;
- Julier, Cécile
Publication type:
journal article
A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.
Published in:
2015
By:
- Abdulkarim, Baroj;
- Nicolino, Marc;
- Igoillo-Esteve, Mariana;
- Daures, Mathilde;
- Romero, Sophie;
- Philippi, Anne;
- Senée, Valérie;
- Lopes, Miguel;
- Cunha, Daniel A.;
- Harding, Heather P.;
- Derbois, Céline;
- Bendelac, Nathalie;
- Hattersley, Andrew T.;
- Eizirik, Décio L.;
- Ron, David;
- Cnop, Miriam;
- Julier, Cécile
Publication type:
journal article
A Novel Hypomorphic PDX1 Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine Deficiency.
Published in:
Diabetes, 2010, v. 59, n. 3, p. 733, doi. 10.2337/db09-1284
By:
- Nicolino, Marc;
- Claiborn, Kathryn C.;
- Senée, Valérie;
- Boland, Anne;
- Stoffers, Doris A.;
- Julier, Cécile
Publication type:
Article

Found: 12