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.
Choledochal Cyst with 17q12 Chromosomal Duplication.
Ann Hum Genet
; 82(1): 48-51, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940454
3.
Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study.
Diabetologia
; 65(1): 246-249, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34618178
4.
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.
J Hum Genet
; 62(8): 755-762, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28356564
5.
De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.
Diabetologia
; 57(3): 480-4, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24323243
6.
[Liver, kidneys and diabetes: three faces of HNF1B gene deficit]. / Játra, ledviny a diabetes: tri tváre deficitu genu HNF1B.
Vnitr Lek
; 60(9): 725-9, 2014 Sep.
Artigo
em Tcheco
| MEDLINE | ID: mdl-25294760
7.
Integrative Role of the SALL4 Gene: From Thalidomide Embryopathy to Genetic Defects of the Upper Limb, Internal Organs, Cerebral Midline, and Pituitary.
Horm Res Paediatr
; 97(2): 106-112, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37285827
8.
The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature.
Horm Res Paediatr
; 97(1): 40-52, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37019085
9.
SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.
Horm Res Paediatr
; 97(2): 203-210, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37611564
10.
Genetic testing of children with familial tall stature: is it worth doing?
J Clin Endocrinol Metab
; 2024 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38307035
11.
Analysis of children with familial short stature: who should be indicated for genetic testing?
Endocr Connect
; 12(10)2023 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37561071
12.
SNPman: a program for genotype calling using run data from TaqMan allelic discrimination.
Bioinformatics
; 27(16): 2306-8, 2011 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21697130
13.
Ancestral mutations may cause a significant proportion of GCK-MODY.
Pediatr Diabetes
; 13(6): 489-98, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22332836
14.
Invaluable Role of Consanguinity in Providing Insight into Paediatric Endocrine Conditions: Lessons Learnt from Congenital Hyperinsulinism, Monogenic Diabetes, and Short Stature.
Horm Res Paediatr
; 95(1): 1-11, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34847552
15.
Quality of Life and Treatment Satisfaction in Participants with Maturity-Onset Diabetes of the Young: A Comparison to Other Major Forms of Diabetes.
Exp Clin Endocrinol Diabetes
; 130(2): 85-93, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32722819
16.
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.
Acta Diabetol
; 59(9): 1169-1178, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35737141
17.
Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.
J Clin Endocrinol Metab
; 107(4): e1455-e1466, 2022 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34850019
18.
Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?
Front Endocrinol (Lausanne)
; 13: 1102968, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36714562
19.
Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations.
Pediatr Diabetes
; 12(3 Pt 2): 266-9, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21214702
20.
HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes.
J Pediatr Endocrinol Metab
; 24(3-4): 187-9, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21648289