Detalhe da pesquisa
1.
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.
Genet Med
; 25(7): 100857, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092539
2.
Life expectancy and likelihood of surgery in multiple endocrine neoplasia type 1: AFCE and GTE cohort study.
Br J Surg
; 109(9): 872-879, 2022 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833229
3.
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
4.
Total gastrectomy for severe proton pump inhibitor-induced hypomagnesemia in a MEN1/Zollinger Ellison syndrome patient.
Pancreatology
; 21(1): 236-239, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33309626
5.
Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.
Neuroendocrinology
; 111(1-2): 99-114, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-32074614
6.
No more hypoglycaemia on days with physical activity and unrestricted diet when using a closed-loop system for 12 weeks: A post hoc secondary analysis of the multicentre, randomized controlled Diabeloop WP7 trial.
Diabetes Obes Metab
; 23(9): 2170-2176, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34009725
7.
Evolution of macroprolactinomas during pregnancy: A cohort study of 85 pregnancies.
Clin Endocrinol (Oxf)
; 92(5): 421-427, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31957911
8.
Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology.
Hum Mutat
; 40(1): 25-30, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304577
9.
ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure.
Genet Med
; 21(4): 930-938, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30224786
10.
Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndrome.
Hum Reprod
; 34(1): 137-147, 2019 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476149
11.
Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma.
J Med Genet
; 54(2): 125-133, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27856506
12.
New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing.
Hum Reprod
; 32(7): 1512-1520, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28505269
13.
Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance.
Hum Mutat
; 37(8): 794-803, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120390
14.
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
15.
Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.
Hum Reprod
; 31(4): 782-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26874361
16.
MDCT Linear and Volumetric Analysis of Adrenal Glands: Normative Data and Multiparametric Assessment.
Eur Radiol
; 26(8): 2494-501, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26515550
17.
Circadian disturbance and idiopathic central serous chorioretinopathy.
Graefes Arch Clin Exp Ophthalmol
; 254(11): 2175-2181, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27207466
18.
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.
Hum Mol Genet
; 22(10): 1940-8, 2013 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23376981
19.
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
20.
Dominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: Lessons for precision medicine.
Diabetes Metab
; 50(1): 101507, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141807