Detalhe da pesquisa
1.
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.
Clin Genet
; 98(4): 331-340, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32666529
2.
Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population.
Diabet Med
; 36(12): 1694-1702, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31276222
3.
Safety and dose modification for patients receiving niraparib.
Ann Oncol
; 29(8): 1784-1792, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29767688
4.
A randomized phase II study of weekly paclitaxel with or without pelareorep in patients with metastatic breast cancer: final analysis of Canadian Cancer Trials Group IND.213.
Breast Cancer Res Treat
; 167(2): 485-493, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29027598
5.
Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes.
Diabet Med
; 34(4): 582-585, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27477181
6.
A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia.
Pediatr Diabetes
; 18(4): 320-323, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28318089
7.
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.
Diabet Med
; 33(9): e21-5, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26526202
8.
Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort.
Diabet Med
; 33(7): 976-84, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26479152
9.
Safety and dose modification for patients receiving niraparib.
Ann Oncol
; 30(5): 859, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30107447
10.
HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response.
Diabet Med
; 31(3): e11-5, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24299156
11.
The evolving course of HNF4A hyperinsulinaemic hypoglycaemia--a case series.
Diabet Med
; 31(1): e1-5, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23796040
12.
Ten years of the national genetic diabetes nurse network: a model for the translation of genetic information into clinical care.
Clin Med (Lond)
; 14(2): 117-21, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715120
13.
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.
Diabetologia
; 56(4): 758-62, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23385738
14.
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
Diabetologia
; 56(9): 1958-63, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23771172
15.
Clinical activity of abiraterone acetate in patients with metastatic castration-resistant prostate cancer progressing after enzalutamide.
Ann Oncol
; 24(7): 1802-1807, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23585511
16.
HNF1B deletions in patients with young-onset diabetes but no known renal disease.
Diabet Med
; 30(1): 114-7, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22587559
17.
Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations.
Diabet Med
; 30(8): e233-8, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23586928
18.
Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency.
Diabet Med
; 30(5): e197-200, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23320570
19.
Phase II study of temsirolimus (CCI-779) in women with recurrent, unresectable, locally advanced or metastatic carcinoma of the cervix. A trial of the NCIC Clinical Trials Group (NCIC CTG IND 199).
Gynecol Oncol
; 130(2): 269-74, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23672928
20.
Mutations in the glucokinase gene of the fetus result in reduced birth weight.
Nat Genet
; 19(3): 268-70, 1998 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-9662401