Detalhe da pesquisa
1.
ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia.
Nucleic Acids Res;
50(11): 6343-6367, 2022 06 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35687106
2.
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.
BMC Med Genet;
21(1): 35, 2020 02 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32066420
3.
Exenatide corrects postprandial hyperglycaemia in young people with cystic fibrosis and impaired glucose tolerance: A randomized crossover trial.
Diabetes Obes Metab;
21(3): 700-704, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30259623
4.
Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.
Am J Med Genet A;
167A(8): 1872-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25850411
5.
A case of Aromatase deficiency due to a novel CYP19A1 mutation.
BMC Endocr Disord;
14: 16, 2014 Feb 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24552606
6.
ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans.
Genome Biol;
25(1): 19, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38225631
7.
Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications.
Clin Endocrinol (Oxf);
85(3): 495-7, 2016 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27177819
8.
Sodium-glucose cotransporter protein-2 (SGLT-2) inhibitors and glucagon-like peptide-1 (GLP-1) receptor agonists for type 2 diabetes: systematic review and network meta-analysis of randomised controlled trials.
BMJ;
372: m4573, 2021 01 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33441402
9.
Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreds.
Clin Endocrinol (Oxf);
70(6): 883-91, 2009 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19018784
10.
Subclinical Cushing's syndrome in adrenal incidentaloma: a common problem or an artefact of current diagnostic testing?
Clin Endocrinol (Oxf);
72(2): 277-8, 2010 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19438901
11.
Low-dose hydrocortisone replacement improves wellbeing and pain tolerance in chronic pain patients with opioid-induced hypocortisolemic responses. A pilot randomized, placebo-controlled trial.
Psychoneuroendocrinology;
56: 157-67, 2015 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25827960
12.
Continuous subcutaneous hydrocortisone infusion therapy in Addison's disease: a randomized, placebo-controlled clinical trial.
J Clin Endocrinol Metab;
99(11): 4149-57, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25127090
13.
ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.
J Clin Endocrinol Metab;
99(9): E1784-92, 2014 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24905064
14.
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
Nat Genet;
43(10): 1012-7, 2011 Sep 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21892162
15.
Corticosteroid-binding globulin: the clinical significance of altered levels and heritable mutations.
Mol Cell Endocrinol;
316(1): 24-34, 2010 Mar 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19643166
16.
Management of obesity in patients with type 2 diabetes mellitus.
Curr Diabetes Rev;
3(2): 95-101, 2007 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18220660
17.
Genome-wide gene expression profiling identifies overlap with malignant adrenocortical tumours and novel mechanisms of inefficient steroidogenesis in familial ACTH-independent macronodular adrenal hyperplasia.
Endocr Relat Cancer;
19(3): L19-23, 2012 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22383426