Detalhe da pesquisa
1.
Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq.
Diabetologia;
67(1): 113-123, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37897565
2.
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Am J Hum Genet;
108(7): 1342-1349, 2021 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34143952
3.
FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.
J Clin Immunol;
43(3): 662-669, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36600150
4.
Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.
Diabet Med;
40(5): e15013, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36398453
5.
SavvyCNV: Genome-wide CNV calling from off-target reads.
PLoS Comput Biol;
18(3): e1009940, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35294448
6.
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.
Diabetologia;
65(7): 1179-1184, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35501400
7.
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
Am J Hum Genet;
104(5): 985-989, 2019 05 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31006513
8.
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
Am J Hum Genet;
105(6): 1286-1293, 2019 12 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31708116
9.
A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly.
Clin Genet;
102(5): 457-458, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35856135
10.
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
Hum Mol Genet;
28(21): 3543-3551, 2019 11 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31423530
11.
Neonatal diabetes caused by disrupted pancreatic and ß-cell development.
Diabet Med;
38(12): e14728, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34665882
12.
Identification of GCK-maturity-onset diabetes of the young in cases of neonatal hyperglycemia: A case series and review of clinical features.
Pediatr Diabetes;
22(6): 876-881, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34085361
13.
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
14.
Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.
Diabetologia;
63(12): 2605-2615, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33029656
15.
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Clin Genet;
98(1): 91-98, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32335897
16.
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.
Genet Med;
21(4): 982-986, 2019 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30279471
17.
Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.
Genet Med;
21(3): 766, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30446706
18.
A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.
Diabetologia;
61(4): 862-869, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29417186
19.
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Diabetologia;
61(5): 1027-1036, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29450569
20.
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.
Pediatr Diabetes;
19(5): 898-904, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29521454