Detalhe da pesquisa
1.
Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases.
Dev Med Child Neurol
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38840441
2.
Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
Hum Mutat
; 41(5): 884-905, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027066
3.
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.
Kidney Int
; 90(1): 203-11, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27234567
4.
Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea-treated KCNJ11 neonatal diabetes.
J Diabetes Investig
; 14(12): 1378-1382, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37602910
5.
Novel perspectives of super-high dose sulfonylurea and high-dose oral prednisolone in an infant with DEND syndrome due to V64M heterozygote KCNJ11 mutation.
Acta Diabetol
; 58(12): 1665-1672, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34272607
6.
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.
Diabetes Care
; 44(1): 35-42, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33184150
7.
Stability and reproducibility of a single-sample urinary C-peptide/creatinine ratio and its correlation with 24-h urinary C-peptide.
Clin Chem
; 55(11): 2035-9, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19713273
8.
Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes.
Diabetes Care
; 42(2): 215-224, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377186
9.
Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-KATP-channel pathways.
BMJ Open Diabetes Res Care
; 7(1): e000721, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31908791
10.
Collaborative Practice Model: Improving the Delivery of Bad News.
Clin J Oncol Nurs
; 22(1): 23-27, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29350694
11.
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.
Lancet Diabetes Endocrinol
; 6(8): 637-646, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29880308
12.
Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist.
Can J Diabetes
; 44(2): 128-130, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31255515
13.
The MDR1 polymorphisms at exons 21 and 26 predict steroid weaning in pediatric heart transplant patients.
Hum Immunol
; 63(9): 765-70, 2002 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12175731
14.
The impact of gender on urine C-peptide creatinine ratio interpretation.
Ann Clin Biochem
; 49(Pt 4): 363-8, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22568974
15.
Suspected Spontaneous Reports of Birth Defects in the UK Associated with the Use of Carbimazole and Propylthiouracil in Pregnancy.
J Thyroid Res
; 2011: 235130, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21922050
16.
Question 1: Should steroids be used to treat abdominal pain caused by Henoch-Schonlein purpura?
Arch Dis Child
; 97(11): 999-1000, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23100613
17.
Polymorphisms in cytokine genes do not predict progression to end-stage heart failure in children.
Cardiol Young
; 12(5): 461-4, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15773449
18.
Tacrolimus dosing in pediatric heart transplant patients is related to CYP3A5 and MDR1 gene polymorphisms.
Am J Transplant
; 3(4): 477-83, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12694072