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.
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
4.
Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.
J Mol Diagn
; 8(5): 559-66, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17065424
5.
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
6.
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
7.
Genome-wide copy number imbalances identified in familial and sporadic medullary thyroid carcinoma.
J Clin Endocrinol Metab
; 88(4): 1866-72, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12679485
8.
Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes.
Hum Pathol
; 41(6): 805-14, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20236688
9.
Germline SDHC mutation presenting as recurrent SDH deficient GIST and renal carcinoma.
Pathology
; 45(7): 689-91, 2013 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24150194
10.
Experience of prophylactic thyroidectomy in multiple endocrine neoplasia type 2A kindreds with RET codon 804 mutations.
Clin Endocrinol (Oxf)
; 63(6): 636-41, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16343097
11.
Independent genetic events associated with the development of multiple parathyroid tumors in patients with primary hyperparathyroidism.
Am J Pathol
; 161(4): 1299-306, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12368203