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1.
Variability of response to early puberty induction demonstrated by transverse uterine diameter measurement and a novel method of 3D breast imaging.
Clin Endocrinol (Oxf)
; 97(1): 91-99, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35436365
2.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29436146
3.
Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre.
Eur J Pediatr
; 175(7): 967-76, 2016 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-27169546
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-22422767
5.
Availability, usage and preferences of estradiol, and progestogen preparations for puberty induction from multicentral perspective.
Horm Res Paediatr
; 2024 May 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38718777
6.
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Hum Mol Genet
; 19(10): 2028-38, 2010 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-20190276
7.
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.
JCI Insight
; 7(5)2022 03 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35138268
8.
A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).
J Endocr Soc
; 7(1): bvac165, 2022 Nov 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-36419940
9.
Prenatal hormones and childhood sex segregation: playmate and play style preferences in girls with congenital adrenal hyperplasia.
Horm Behav
; 59(4): 549-55, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21338606
10.
Treatment outcome with a selective RET tyrosine kinase inhibitor selpercatinib in children with multiple endocrine neoplasia type 2 and advanced medullary thyroid carcinoma.
Eur J Cancer
; 158: 38-46, 2021 Oct 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34649088
11.
Treating papillary and follicular thyroid cancer in children and young people: Single UK-center experience between 2003 and 2018.
J Pediatr Surg
; 56(3): 534-539, 2021 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-32838975
12.
Sudden sex hormone withdrawal and the effects on body composition in late pubertal adolescents with gender dysphoria.
J Pediatr Endocrinol Metab
; 33(1): 107-112, 2020 Jan 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-31834861
13.
Late Recovery of Parathyroid Function after Total Thyroidectomy in Children and Adults: Is There a Difference?
Horm Res Paediatr
; 93(9-10): 539-547, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33706312
14.
Children are at a high risk of hypocalcaemia and hypoparathyroidism after total thyroidectomy.
J Pediatr Surg
; 55(7): 1260-1264, 2020 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-31383578
15.
Testicular-Epididymal Dissociation: Vas and Vessels May "Lead up the Garden Path".
European J Pediatr Surg Rep
; 7(1): e96-e99, 2019 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-31871850
16.
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
J Endocr Soc
; 3(1): 201-221, 2019 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30620006
17.
Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.
Lancet Diabetes Endocrinol
; 7(3): 213-220, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30660595
18.
Thyroid Surgery in Children: Clinical Outcomes.
Eur J Pediatr Surg
; 25(5): 425-9, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25144354
19.
Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.
Eur J Endocrinol
; 172(6): 803-11, 2015 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-25924874
20.
Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children.
J Clin Endocrinol Metab
; 88(12): 5696-703, 2003 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-14671155