OpenURL Connection Search

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

Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction.
Published in:
2009
By:
- Bonnefond, A.;
- Bouatia-Naji, N.;
- Simon, A.;
- Saint-Martin, C.;
- Dechaume, A.;
- Lonlay, P.;
- Polak, M.;
- Bellanné-Chantelot, C.;
- Froguel, P.;
- Vaxillaire, M.
Publication type:
Letter
Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case–control study.
Published in:
Diabetologia, 2008, v. 51, n. 9, p. 1664, doi. 10.1007/s00125-008-1073-1
By:
- Massin, P.;
- Dubois-Laforgue, D.;
- Meas, T.;
- Laloi-Michelin, M.;
- Gin, H.;
- Bauduceau, B.;
- Bellanné-Chantelot, C.;
- Bertin, E.;
- Blickle, J.-F.;
- Bouhanick, B.;
- Cahen-Varsaux, J.;
- Casanova, S.;
- Charpentier, G.;
- Chedin, P.;
- Dupuy, O.;
- Grimaldi, A.;
- Guerci, B.;
- Kaloustian, E.;
- Lecleire-Collet, A.;
- Lorenzini, F.
Publication type:
Article
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.
Published in:
Diabetologia, 2008, v. 51, n. 4, p. 546, doi. 10.1007/s00125-008-0942-y
By:
- Ellard, S.;
- Bellanné-Chantelot, C.;
- Hattersley, A.
Publication type:
Article
The Gly482Ser polymorphism in the peroxisome proliferator-activated receptor-? coactivator-1 gene is associated with hypertension in type 2 diabetic men.
Published in:
Diabetologia, 2004, v. 47, n. 11, p. 1980, doi. 10.1007/s00125-004-1567-4
By:
- Cheurfa, N.;
- Reis, A.F.;
- Dubois-Laforgue, D.;
- Bellanné-Chantelot, C.;
- Timsit, J.;
- Velho, G.
Publication type:
Article
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
Published in:
Clinical Genetics, 2015, v. 87, n. 5, p. 448, doi. 10.1111/cge.12428
By:
- Saint‐Martin, C.;
- Zhou, Q.;
- Martin, G.M.;
- Vaury, C.;
- Leroy, G.;
- Arnoux, J.‐B.;
- de Lonlay, P.;
- Shyng, S.‐L.;
- Bellanné‐Chantelot, C.
Publication type:
Article
Mutations in the insulin promoter factor-1 gene in late-onset type 2 diabetes mellitus.
Published in:
European Journal of Endocrinology, 2000, v. 143, n. 4, p. 511, doi. 10.1530/eje.0.1430511
By:
- Reis, A. F.;
- W-Z Ye;
- Dubois-Laforgue, D.;
- Bellanné-Chantelot, C.;
- Timsit, J.;
- Velho, G.
Publication type:
Article
Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families.
Published in:
European Journal of Endocrinology, 2000, v. 142, n. 4, p. 380, doi. 10.1530/eje.0.1420380
By:
- Costa, A.;
- Bescós, M.;
- Velho, G.;
- Chêvre, J. C.;
- Vidal1, J.;
- Sesmilo1, G.;
- Bellanné-Chantelot, C.;
- Froguel, P.;
- Casamitjana, R.;
- Rivera-Fillat, F.;
- Gomis, R.;
- Conget, I.
Publication type:
Article
Morphological Mosaicism of the Pancreatic Islets: A Novel Anatomopathological Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 12, p. 3785, doi. 10.1210/jc.2010-3032
By:
- Sempoux, C.;
- Capito, C.;
- Bellanné-Chantelot, C.;
- Verkarre, V.;
- Lonlay, P. de;
- Aigrain, Y.;
- Fekete, C.;
- Guiot, Y.;
- Rahier, J.
Publication type:
Article
Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies.
Published in:
2010
By:
- Carette C;
- Dubois-Laforgue D;
- Saint-Martin C;
- Clauin S;
- Beaufils S;
- Larger E;
- Sola A;
- Mosnier-Pudar H;
- Timsit J;
- Bellanné-Chantelot C
Publication type:
Journal Article
Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies C. Carette et al. Rare HNF1A/4A molecular events in familial young-onset diabetes.
Published in:
Diabetic Medicine, 2010, v. 27, n. 12, p. 1454, doi. 10.1111/j.1464-5491.2010.03115.x
By:
- Carette, C.;
- Dubois-Laforgue, D.;
- Saint-Martin, C.;
- Clauin, S.;
- Beaufils, S.;
- Larger, E.;
- Sola, A.;
- Mosnier-Pudar, H.;
- Timsit, J.;
- Bellanné-Chantelot, C.
Publication type:
Article
The Clinical Variability of Maternally Inherited Diabetes and Deafness Is Associated with the Degree of Heteroplasmy in Blood Leukocytes.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 8, p. 3025, doi. 10.1210/jc.2008-2680
By:
- Laloi-Michelin, M.;
- Meas, T.;
- Ambonville, C.;
- Bellanné-Chantelot, C.;
- Beaufils, S.;
- Massin, P.;
- Vialettes, B.;
- Gin, H.;
- Timsit, J.;
- Bauduceau, B.;
- Bernard, L.;
- Bertin, E.;
- Blickle, J.-F.;
- Cahen-Varsaux, J.;
- Cailleba, A.;
- Casanova, S.;
- Cathebras, P.;
- Charpentier, G.;
- Chedin, P.;
- Crea, T.
Publication type:
Article
Nine Novel Mutations in Maturity-Onset Diabetes of the Young (MODY) Candidate Genes in 22 Spanish Families.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 6, p. 2532, doi. 10.1210/jcem.87.6.8530
By:
- BARRIO, R.;
- BELLANNÉ -CHANTELOT, C.;
- MORENO, J. C.;
- MOREL, V.;
- CALLE, H.;
- ALONSO, M.;
- MUSTIELES, C.
Publication type:
Article
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.
Published in:
2004
By:
- Bellanné-Chantelot C;
- Chauveau D;
- Gautier J;
- Dubois-Laforgue D;
- Clauin S;
- Beaufils S;
- Wilhelm J;
- Boitard C;
- Noël L;
- Velho G;
- Timsit J;
- Bellanné-Chantelot, Christine;
- Chauveau, Dominique;
- Gautier, Jean-François;
- Dubois-Laforgue, Danièle;
- Clauin, Séverine;
- Beaufils, Sandrine;
- Wilhelm, Jean-Marie;
- Boitard, Christian;
- Noël, Laure-Hélène
Publication type:
journal article
Maturity Onset Diabetes of the Young 5.
Published in:
Annals of Internal Medicine, 2004, v. 140, n. 7, p. I42, doi. 10.7326/0003-4819-140-7-200404060-00003
By:
- Bellanné-Chantelot, C.;
- Chauveau, D.;
- Gautier, J. F.;
- Dubois- Laforgue, D.;
- Clauin, S.;
- Beaufils, S.;
- Wilhelm, J. M.;
- Boitard, C.;
- Noël, L. H.;
- Velho, G.;
- Timsit., J.
Publication type:
Article
Dominantly inherited hyperinsulinaemic hypoglycaemia.
Published in:
Journal of Inherited Metabolic Disease, 2005, v. 28, n. 3, p. 267, doi. 10.1007/s10545-005-7057-0
By:
- Lonlay, P.;
- Giurgea, I.;
- Sempoux, C.;
- Touati, G.;
- Jaubert, F.;
- Rahier, J.;
- Ribeiro, M.;
- Brunelle, F.;
- Nihoul-Fékété, C.;
- Robert, J.-J.;
- Saudubray, J.-M.;
- Stanley, C.;
- Bellanné-Chantelot, C.
Publication type:
Article
The JAK2<sup>V617F</sup> mutation may be present several years before the occurrence of overt myeloproliferative disorders.
Published in:
2008
By:
- Bellanné-Chantelot, C.;
- Jego, P.;
- Lionne-Huyghe, P.;
- Tulliez, M.;
- Najman, A.
Publication type:
Letter
Screening for G-CSF receptor mutations in patients with secondary myeloid or lymphoid transformation of severe congenital neutropenia. A report from the French neutropenia register.
Published in:
2004
By:
- Cassinat, B.;
- Bellanné-Chantelot, C.;
- Notz-carrère, A.;
- Menot, M.L.;
- Vaury, C.;
- Micheau, M.;
- Bader-meunier, B.;
- Perel, Y.;
- Leblanc, T.;
- Donadieu, J.;
- Chomienne, C.
Publication type:
Letter
Intermittent chronic neutropenia in a patient with familial Mediterranean fever.
Published in:
Pediatric Blood & Cancer, 2008, v. 51, n. 5, p. 701, doi. 10.1002/pbc.21685
By:
- Ganiou Tidjani, K.;
- Ailal, F.;
- Najib, J.;
- Bellanné-Chantelot, C.;
- Donadieu, J.;
- Bousfiha, A.A.
Publication type:
Article
Efficacy of dupilumab for controlling severe atopic dermatitis with dominant‐negative CARD11 variant.
Published in:
Clinical & Experimental Dermatology, 2021, v. 46, n. 7, p. 1334, doi. 10.1111/ced.14686
By:
- Charvet, E.;
- Bourrat, E.;
- Hickman, G.;
- Donadieu, J.;
- Bellanné‐Chantelot, C.;
- Jachiet, M.;
- Bouaziz, J‐D.;
- Bagot, M.;
- Cassius, C.
Publication type:
Article

Found: 19