Detalhe da pesquisa
1.
Low-dose diazoxide is safe and effective in infants with transient hyperinsulinism.
Clin Endocrinol (Oxf)
; 100(2): 132-137, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38059644
2.
Tolvaptan and urea in paediatric hyponatraemia.
Pediatr Nephrol
; 39(1): 177-183, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37466863
3.
Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders.
Genet Med
; 25(9): 100881, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165954
4.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 111(5): 996, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701747
5.
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Genet Med
; 24(2): 384-397, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906446
6.
A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy.
Am J Med Genet A
; 188(9): 2701-2706, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35792517
7.
Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development.
Proc Natl Acad Sci U S A
; 116(45): 22754-22763, 2019 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31628250
8.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(2): 221-231, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057030
9.
Congenital growth hormone deficiency associated with hip dysplasia and Legg-Calve-Perthes disease.
Clin Endocrinol (Oxf)
; 94(4): 590-597, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33147364
10.
Syndromic Forms of Hyperinsulinaemic Hypoglycaemia-A 15-year follow-up Study.
Clin Endocrinol (Oxf)
; 94(3): 399-412, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33345357
11.
Clinical benefits of sex steroids given as a priming prior to GH provocative test or as a growth-promoting therapy in peripubertal growth delays: Results of a retrospective study among ENDO-ERN centres.
Clin Endocrinol (Oxf)
; 94(2): 219-228, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32969044
12.
Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.
Rev Endocr Metab Disord
; 21(4): 577-597, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32185602
13.
Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans.
Proc Natl Acad Sci U S A
; 113(5): E548-57, 2016 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26764381
14.
Pathogenesis of Growth Failure in Rasopathies.
Pediatr Endocrinol Rev
; 16(Suppl 2): 447-458, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31115196
15.
A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.
Clin Endocrinol (Oxf)
; 89(6): 813-823, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30086211
16.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(3): 456, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193137
17.
Evaluation of growth hormone stimulation testing in children.
Clin Endocrinol (Oxf)
; 84(5): 708-14, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26840536
18.
HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
Clin Endocrinol (Oxf)
; 85(3): 408-14, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27000987
19.
Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre.
Eur J Pediatr
; 175(7): 967-76, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27169546
20.
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
J Med Genet
; 52(2): 85-94, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480986