Detalhe da pesquisa
1.
Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome.
Eur J Pediatr;
181(6): 2491-2500, 2022 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35316366
2.
Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy.
J Paediatr Child Health;
58(2): 248-255, 2022 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34397126
3.
Proopiomelanocortin deficiency diagnosed in infancy in two boys and a review of the known cases.
J Paediatr Child Health;
57(4): 484-490, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33666293
4.
Requirements for improving health and well-being of children with Prader-Willi syndrome and their families.
J Paediatr Child Health;
55(9): 1029-1037, 2019 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31257692
5.
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Hum Mutat;
39(1): 124-139, 2018 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29027299
6.
Attitudes towards mental health, mental health research and digital interventions by young adults with type 1 diabetes: A qualitative analysis.
Health Expect;
21(3): 668-677, 2018 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29319923
7.
Advances in the detection and management of cystic fibrosis related diabetes.
Curr Opin Pediatr;
27(4): 525-33, 2015 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26087430
8.
Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report.
BMC Pediatr;
15: 200, 2015 Dec 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26631065
9.
The FOXP3Δ2 isoform supports Treg cell development and protects against severe IPEX syndrome.
J Allergy Clin Immunol;
144(1): 317-320.e8, 2019 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30904640
10.
Visual function and retinal thickness in children with type 1 diabetes mellitus.
Clin Exp Optom;
: 1-9, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38175925
11.
Response to growth hormone treatment in Prader-Willi syndrome: auxological criteria versus genetic diagnosis.
J Paediatr Child Health;
49(12): 1045-51, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23781979
12.
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
Nat Genet;
36(3): 228-30, 2004 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14758361
13.
A diabetes awareness campaign prevents diabetic ketoacidosis in children at their initial presentation with type 1 diabetes.
Pediatr Diabetes;
13(8): 647-51, 2012 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22816992
14.
Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study.
J Autism Dev Disord;
52(9): 3877-3889, 2022 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34498151
15.
Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children.
Pediatr Diabetes;
12(3 Pt 1): 142-9, 2011 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21518407
16.
Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism.
Australas J Dermatol;
52(2): 127-31, 2011 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21605097
17.
Cystic fibrosis-related diabetes and lung disease: an update.
Eur Respir Rev;
30(159)2021 Mar 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33597125
18.
Pericardial Effusion Associated with Diazoxide Treatment for Congenital Hyperinsulinism.
Horm Res Paediatr;
93(3): 206-211, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32580193
19.
Glucose abnormalities detected by continuous glucose monitoring are common in young children with Cystic Fibrosis.
J Cyst Fibros;
19(5): 700-703, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32111453
20.
Peak OGTT glucose is associated with lower lung function in young children with cystic fibrosis.
J Cyst Fibros;
19(2): 305-309, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31126898