Detalhe da pesquisa
1.
A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.
Am J Med Genet A
; 194(2): 383-388, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37850521
2.
The effect of pregnancy vitamin D supplementation on offspring bone mineral density in childhood: a systematic review and meta-analysis.
Osteoporos Int
; 34(7): 1269-1279, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37103591
3.
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.
J Med Genet
; 59(6): 613-622, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34135092
4.
Does antenatal cholecalciferol supplementation affect the mode or timing of delivery? Post hoc analyses of the MAVIDOS randomized controlled trial.
J Public Health (Oxf)
; 45(3): 738-747, 2023 08 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36585903
5.
Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.
Clin Endocrinol (Oxf)
; 97(3): 284-292, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35261046
6.
A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.
Am J Med Genet A
; 188(6): 1896-1903, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266280
7.
Vitamin D, and Maternal and Child Health.
Calcif Tissue Int
; 106(1): 30-46, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31089772
8.
Hypercalcaemia secondary to ectopic parathyroid hormone expression in an adolescent with metastatic alveolar rhabdomyosarcoma.
Pediatr Blood Cancer
; 65(1)2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28843052
9.
Embedding electronic growth charts into clinical practice at a children's hospital.
Arch Dis Child Educ Pract Ed
; 103(2): 82-84, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28993432
10.
Further defining the phenotypic spectrum of B4GALT7 mutations.
Am J Med Genet A
; 170(6): 1556-63, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26940150
11.
Haematological chimerism masquerading as disorder of sex development.
Clin Endocrinol (Oxf)
; 92(5): 487-489, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943282
12.
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases.
J Med Genet
; 51(8): 495-501, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24891339
13.
Key Stages in the Development and Establishment of Paediatric Endocrinology: A Template for Future Progress.
Horm Res Paediatr
; 97(1): 22-27, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166328
14.
Body composition and metabolism in adults with molecularly-confirmed Silver-Russell syndrome.
J Clin Endocrinol Metab
; 2024 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38330234
15.
Cognitive function and skeletal size and mineral density at age 6-7 years: Findings from the Southampton Women's Survey.
Bone
; 182: 117067, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38438096
16.
Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 1, general recommendations.
Nat Rev Endocrinol
; 20(5): 278-289, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336897
17.
Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases.
Nat Rev Endocrinol
; 20(5): 290-309, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336898
18.
National service evaluation of the quality of care for children and young people with congenital adrenal hyperplasia in the United Kingdom: survey responses from patients and clinicians.
Horm Res Paediatr
; 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471495
19.
Intracardiac thrombosis following intravenous zoledronate treatment in a child with steroid-induced osteoporosis.
J Pediatr Endocrinol Metab
; 36(3): 327-330, 2023 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36427218
20.
Parent-Offspring Associations in Body Composition: Findings From the Southampton Women's Survey Prospective Cohort Study.
J Clin Endocrinol Metab
; 108(9): e726-e733, 2023 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943299