Detalhe da pesquisa
1.
A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome.
Pediatr Diabetes
; 19(3): 381-387, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28940958
2.
Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study.
J Mol Med (Berl)
; 86(3): 341-8, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18210030
3.
High Prevalence of Rare Monogenic Forms of Obesity in Obese Guadeloupean Afro-Caribbean Children.
J Clin Endocrinol Metab
; 103(2): 539-545, 2018 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29216354
4.
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.
Mol Metab
; 13: 1-9, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29784605
5.
Loss-of-function mutations in ADCY3 cause monogenic severe obesity.
Nat Genet
; 50(2): 175-179, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29311637
6.
What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?
PLoS One
; 10(11): e0143373, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26599467
7.
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.
Diabetes Care
; 37(2): 460-7, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24041679
8.
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
PLoS One
; 7(6): e37423, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22701567
9.
Lack of association of CD36 SNPs with early onset obesity: a meta-analysis in 9,973 European subjects.
Obesity (Silver Spring)
; 19(4): 833-9, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20966904
10.
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.
PLoS One
; 5(10): e13630, 2010 Oct 26.
Artigo
Inglês
| MEDLINE | ID: mdl-21049026
11.
A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk.
Nat Genet
; 41(1): 89-94, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19060909
12.
INS VNTR is not associated with childhood obesity in 1,023 families: a family-based study.
Obesity (Silver Spring)
; 16(6): 1471-5, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18388898
13.
A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels.
Science
; 320(5879): 1085-8, 2008 May 23.
Artigo
Inglês
| MEDLINE | ID: mdl-18451265
14.
Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.
PLoS One
; 3(5): e2031, 2008 May 07.
Artigo
Inglês
| MEDLINE | ID: mdl-18461161