Detalhe da pesquisa
1.
Diagnostic utility of 11 C-methionine PET/CT in primary hyperparathyroidism in a UK cohort: A single-centre experience and literature review.
Clin Endocrinol (Oxf)
; 99(3): 233-245, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272391
2.
Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.
Clin Endocrinol (Oxf)
; 97(4): 448-459, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34870338
3.
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Clin Endocrinol (Oxf)
; 96(4): 499-512, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34558728
4.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Am J Hum Genet
; 103(1): 3-18, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909963
5.
A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma.
Clin Endocrinol (Oxf)
; 93(5): 528-538, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32686200
6.
Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.
Clin Endocrinol (Oxf)
; 93(4): 409-418, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32430905
7.
What is the appropriate management of nonfunctioning pancreatic neuroendocrine tumours disclosed on screening in adult patients with multiple endocrine neoplasia type 1?
Clin Endocrinol (Oxf)
; 91(6): 708-715, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31505044
8.
Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers.
Clin Endocrinol (Oxf)
; 90(4): 499-505, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30589099
9.
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.
Am J Med Genet A
; 179(7): 1330-1337, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31041856
10.
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
J Med Genet
; 55(6): 384-394, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29386252
11.
Peptidomic analysis of endogenous plasma peptides from patients with pancreatic neuroendocrine tumours.
Rapid Commun Mass Spectrom
; 32(16): 1414-1424, 2018 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29857350
12.
Editorial for Clinical Endocrinology special issue on "Genetics in Endocrinology".
Clin Endocrinol (Oxf)
; 97(4): 387, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35922964
13.
Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement.
Nat Rev Endocrinol
; 20(3): 168-184, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38097671
14.
Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.
J Clin Pathol
; 77(1): 34-39, 2023 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36198483
15.
Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants.
Lancet Diabetes Endocrinol
; 11(5): 345-361, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37011647
16.
Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.
Endocr Relat Cancer
; 29(10): R157-R172, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35938916
17.
The use of temozolomide in paediatric metastatic phaeochromocytoma/paraganglioma: A case report and literature review.
Front Endocrinol (Lausanne)
; 13: 1066208, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36440187
18.
An Approach to a Patient With Primary Hyperparathyroidism and a Suspected Ectopic Parathyroid Adenoma.
J Clin Endocrinol Metab
; 107(6): 1706-1713, 2022 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150267
19.
Precision Medicine in Phaeochromocytoma and Paraganglioma.
J Pers Med
; 11(11)2021 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34834591
20.
A single-centre retrospective analysis of cinacalcet therapy in primary hyperparathyroidism.
Endocr Connect
; 10(11): 1435-1444, 2021 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34647901