Detalhe da pesquisa
1.
Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases.
Pediatr Diabetes
; 16(7): 510-20, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131821
2.
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.
Nat Genet
; 38(6): 682-7, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16715098
3.
DNAJC3 deficiency induces ß-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.
Eur J Endocrinol
; 184(3): 455-468, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33486469
4.
Mutations and variants of ONECUT1 in diabetes.
Nat Med
; 27(11): 1928-1940, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34663987
5.
Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.
Pediatr Diabetes
; 11(4): 279-85, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20202148
6.
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
J Clin Invest
; 130(12): 6338-6353, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33164986
7.
Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation.
Genes (Basel)
; 8(11)2017 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29112131
8.
dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.
Diabetes
; 66(4): 1086-1096, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28073829
9.
Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.
Diabetes
; 53(7): 1876-83, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15220213
10.
A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.
Diabetes
; 64(11): 3951-62, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26159176
11.
A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.
Eur J Hum Genet
; 22(1): 140-3, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23652376
12.
A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.
Diabetes
; 59(3): 733-40, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20009086
13.
Severe FOXP3+ and naïve T lymphopenia in a non-IPEX form of autoimmune enteropathy combined with an immunodeficiency.
Gastroenterology
; 132(5): 1694-704, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17484867
14.
Crohn's disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes.
Mol Genet Metab
; 86(3): 379-83, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16198136