Detalhe da pesquisa
1.
Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021).
Clin Endocrinol (Oxf)
; 95(6): 818-840, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34031907
2.
How to interpret IGF-1 and growth hormone stimulation tests.
Arch Dis Child Educ Pract Ed
; 105(5): 311-314, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32371419
3.
Practical approach to managing metabolic bone disease of prematurity in the neonatal unit.
Arch Dis Child Educ Pract Ed
; 2023 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37875326
4.
Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.
Am J Med Genet A
; 170(12): 3303-3307, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27549894
5.
Fifteen-minute consultation: The child with short stature.
Arch Dis Child Educ Pract Ed
; 100(4): 180-4, 203, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25855216
6.
Paediatric Society and Hyperinsulinism Charity National Surveys on CGM Access for Patients With Recurrent Hypoglycaemia.
J Endocr Soc
; 7(4): bvad021, 2023 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36824585
7.
Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidance.
Arch Dis Child
; 108(11): 871-878, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37045585
8.
Discharge outcome analysis of 1089 transgender young people referred to paediatric endocrine clinics in England 2008-2021.
Arch Dis Child
; 2022 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35851291
9.
Homozygosity for the pathogenic RET hotspot variant p.Cys634Trp: A consanguineous family with MEN2A.
Eur J Med Genet
; 64(2): 104141, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33450337
10.
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
J Clin Endocrinol Metab
; 106(11): e4716-e4733, 2021 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34136918
11.
Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.
PLoS One
; 15(2): e0228417, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027664
12.
GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients.
Endocr Connect
; 2020 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32061156
13.
Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.
J Pediatr Endocrinol Metab
; 32(9): 959-967, 2019 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301676
14.
Case for funding of continuous glucose monitoring systems for patients with recurrent hypoglycaemia.
Arch Dis Child
; 108(10): 816-817, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36202595
15.
Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation.
Eur J Endocrinol
; 178(5): 481-489, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29500309
16.
IGF-I signalling in bone growth: inhibitory actions of dexamethasone and IL-1beta.
Growth Horm IGF Res
; 17(5): 435-9, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17590365
17.
Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.
J Clin Endocrinol Metab
; 94(9): 3191-9, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19567534