Detalhe da pesquisa
1.
International comparison of glycaemic control in people with type 1 diabetes: an update and extension.
Diabet Med
; 39(5): e14766, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34890078
2.
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
J Med Genet
; 57(3): 160-168, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586944
3.
Early Formation of Serum Advanced Glycation End-Products in Children with Type 1 Diabetes Mellitus: Relationship with Glycemic Control.
J Pediatr
; 172: 56-62, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26947567
4.
A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.
Am J Med Genet A
; 167(6): 1275-84, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900228
5.
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.
BMC Med Genet
; 15: 139, 2014 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25524009
6.
Lessons from prospective longitudinal follow-up of a French APECED cohort.
J Clin Endocrinol Metab
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605470
7.
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
Pediatr Allergy Immunol
; 28(3): 298-303, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28039949
8.
Characteristics of newly diagnosed type 1 diabetes in paediatric and adult population from Reims University Hospital, France from 1997 to 2019.
Diabetes Metab
; 48(5): 101346, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35339663
9.
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.
Orphanet J Rare Dis
; 17(1): 86, 2022 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227307
10.
A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features.
Endocrine
; 73(3): 693-701, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999366
11.
Metabolic control in children with diabetes mellitus who are younger than 6 years at diagnosis: continuous subcutaneous insulin infusion as a first line treatment?
J Pediatr
; 157(1): 103-7, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20227730
12.
Three Consecutive Pregnancies in a Patient with Chronic Autoimmune Thyroid Disease Associated with Hypothyroidism and Extremely High Levels of Anti-Thyrotropin Receptor Antibodies.
Thyroid
; 29(5): 743-747, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30973063
13.
Early predictors of diabetic retinopathy in type 1 diabetes: The Retinopathy Champagne Ardenne Diabète (ReCAD) study.
J Diabetes Complications
; 32(8): 753-758, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29980433
14.
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
Eur J Endocrinol
; 175(1): 73-84, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27129361
15.
Macroprolactinomas in children and adolescents: factors associated with the response to treatment in 77 patients.
J Clin Endocrinol Metab
; 100(3): 1177-86, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25532043
16.
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].
Lancet Diabetes Endocrinol
; 1(3): 199-207, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24622368
17.
Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections.
J Clin Endocrinol Metab
; 97(1): E121-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22013103
18.
An unusual case of methyl bromide poisoning.
J Toxicol Clin Toxicol
; 40(6): 817-21, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12475194