Detalhe da pesquisa
1.
Bayesian approach to determining penetrance of pathogenic SDH variants.
J Med Genet
; 55(11): 729-734, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30201732
2.
Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.
BMC Cancer
; 17(1): 497, 2017 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28738844
3.
Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.
Clin Endocrinol (Oxf)
; 80(1): 25-33, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24102379
4.
Outcomes of SDHB pathogenic variant carriers: A systematic review and meta-analysis.
J Clin Endocrinol Metab
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605204
5.
Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.
Endocr Relat Cancer
; 30(5)2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36786389
6.
A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Pheochromocytoma and Paraganglioma.
Am J Surg Pathol
; 47(1): 25-36, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35993574
7.
Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study.
J Clin Endocrinol Metab
; 107(5): e1907-e1916, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35037935
8.
Functional significance of germline EPAS1 variants.
Endocr Relat Cancer
; 28(2): 97-109, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300499
9.
Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.
J Clin Endocrinol Metab
; 106(1): e350-e364, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051659
10.
The utility of metaiodobenzylguanidine single photon emission computed tomography/computed tomography (MIBG SPECT/CT) for the diagnosis of pheochromocytoma.
Ann Surg Oncol
; 17(2): 392-400, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19949879
11.
Renal tumors and hereditary pheochromocytoma-paraganglioma syndrome type 4.
N Engl J Med
; 364(9): 885-6, 2011 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-21366490
12.
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.
J Surg Res
; 157(1): 55-62, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19215943
13.
TERT structural rearrangements in metastatic pheochromocytomas.
Endocr Relat Cancer
; 25(1): 1-9, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28974544
14.
Utility of the succinate: Fumarate ratio for assessing SDH dysfunction in different tumor types.
Mol Genet Metab Rep
; 10: 45-49, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28070496
15.
Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.
Nat Rev Endocrinol
; 13(4): 233-247, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27857127
16.
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
J Clin Endocrinol Metab
; 91(3): 827-36, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16317055
17.
Genetic basis of phaeochromocytoma and paraganglioma.
Best Pract Res Clin Endocrinol Metab
; 20(3): 435-50, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16980204
18.
Genetic testing in pheochromocytoma- and paraganglioma-associated syndromes.
Ann N Y Acad Sci
; 1073: 104-11, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17102077
19.
Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.
Oncogene
; 22(9): 1358-64, 2003 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-12618761
20.
15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.
Endocr Relat Cancer
; 22(4): T91-103, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26273102