Detalhe da pesquisa
1.
Growth reference charts for children with hypochondroplasia.
Am J Med Genet A
; 194(2): 243-252, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814549
2.
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
Hum Mol Genet
; 21(12): 2768-78, 2012 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422767
3.
Prader-Willi Syndrome: guidance for children and transition into adulthood.
Endocr Connect
; 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38838713
4.
Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: results from long-term open-label study.
Obesity (Silver Spring)
; 32(2): 252-261, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37919617
5.
Diabetes in cystic fibrosis.
Paediatr Respir Rev
; 14 Suppl 1: 16-8, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23522600
6.
Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial.
J Clin Endocrinol Metab
; 108(7): 1676-1685, 2023 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36639249
7.
Hypoventilation disproportionate to OSAS severity in children with Prader-Willi syndrome.
Arch Dis Child
; 104(2): 166-171, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30007944
8.
Hypocalcaemia mimicking long QT syndrome: case report.
Eur J Pediatr
; 167(2): 233-5, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17486364
9.
Quantifying fluctuation in glucose levels to identify early changes in glucose homeostasis in cystic fibrosis.
J Cyst Fibros
; 17(6): 791-797, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29329721
10.
HbA1c as a screening tool for cystic fibrosis related diabetes.
J Cyst Fibros
; 15(2): 251-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25869326
11.
Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.
PLoS One
; 10(6): e0131417, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26120850
12.
Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome.
J Clin Endocrinol Metab
; 88(12): 6034-9, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14671208
13.
What is the value of growth hormone therapy in Prader Willi syndrome?
Arch Dis Child
; 99(2): 166-70, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24162007
14.
Age-dependent elevations in plasma kisspeptin are observed in boys and girls when compared with adults.
Ann Clin Biochem
; 51(Pt 1): 89-96, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23869023
15.
Response to Letter to the Editor: HbA1c as a screening tool for cystic fibrosis related diabetes: Response to letters by Widger et al. and Schnyder et al.
J Cyst Fibros
; 15(2): 265-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26711098
16.
Genitopatellar syndrome: a further case.
Clin Dysmorphol
; 20(3): 163-165, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21412151