Detalhe da pesquisa
1.
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.
Pediatr Diabetes
; 23(4): 457-461, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35294086
2.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Am J Hum Genet
; 103(6): 1038-1044, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503519
3.
Optimal Timing of Repeat Newborn Screening for Congenital Hypothyroidism in Preterm Infants to Detect Delayed Thyroid-Stimulating Hormone Elevation.
J Pediatr
; 205: 77-82, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30529133
4.
Catalogue of inherited disorders found among the Irish Traveller population.
J Med Genet
; 55(4): 233-239, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29358271
5.
Outcomes of using flash glucose monitoring technology by children and young people with type 1 diabetes in a single arm study.
Pediatr Diabetes
; 19(7): 1294-1301, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30054967
6.
Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.
Am J Med Genet A
; 173(1): 274-279, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27774767
7.
Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.
Eur J Pediatr
; 176(1): 137-142, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27826649
8.
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
Am J Hum Genet
; 92(1): 131-6, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23273570
9.
The Association of Vitamin D Status with Acute Respiratory Morbidity in Preterm Infants.
J Pediatr
; 166(5): 1175-1180.e1, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25919726
10.
Inadequate vitamin D levels are associated with culture positive sepsis and poor outcomes in paediatric intensive care.
Acta Paediatr
; 104(10): e433-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26096884
11.
A realist synthesis of multicentre comparative audit implementation: exploring what works and in which healthcare contexts.
BMJ Open Qual
; 13(1)2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38448042
12.
International Newborn Screening Practices for the Early Detection of Congenital Adrenal Hyperplasia.
Horm Res Paediatr
; 97(2): 113-125, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37231960
13.
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.
Eur J Hum Genet
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605124
14.
Lack of sensitivity of the 1-µg low-dose ACTH stimulation test in a paediatric population with suboptimal cortisol responses to insulin-induced hypoglycaemia.
Clin Endocrinol (Oxf)
; 78(1): 73-8, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22712566
15.
Vitamin D nutritional status in preterm infants and response to supplementation.
Br J Nutr
; 110(1): 156-63, 2013 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-23182428
16.
Adolescent perspectives on negotiating self-management responsibilities for type 1 diabetes with their parents.
Patient Educ Couns
; 109: 107629, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36641999
17.
Relationship between parent-adolescent communication and parent involvement in adolescent Type 1 diabetes management, parent/family wellbeing and glycaemic control.
Chronic Illn
; : 17423953231184423, 2023 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386763
18.
Parents' perspectives of factors affecting parent-adolescent communication about type 1 diabetes and negotiation of self-management responsibilities.
J Child Health Care
; : 13674935221146009, 2022 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36529483
19.
Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience.
J Clin Med
; 11(5)2022 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35268460
20.
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.
Eur J Endocrinol
; 186(4): 417-427, 2022 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35089870