Detalhe da pesquisa
1.
Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
J Med Genet
; 57(11): 752-759, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31996412
2.
The TMEM127 human tumor suppressor is a component of the mTORC1 lysosomal nutrient-sensing complex.
Hum Mol Genet
; 27(10): 1794-1808, 2018 05 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29547888
3.
EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease.
N Engl J Med
; 378(13): 1259-1261, 2018 03 29.
Artigo
Inglês
| MEDLINE | ID: mdl-29601261
4.
Allele frequencies for 15 autosomal STR loci and haplotype data for 17 Y-STR loci in a population from Belize.
Int J Legal Med
; 129(6): 1217-8, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25193820
5.
Insights into Mechanisms of Pheochromocytomas and Paragangliomas Driven by Known or New Genetic Drivers.
Cancers (Basel)
; 13(18)2021 Sep 14.
Artigo
Inglês
| MEDLINE | ID: mdl-34572828
6.
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
Inglês
| MEDLINE | ID: mdl-33051659
7.
Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking.
J Clin Endocrinol Metab
; 105(9)2020 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32575117
8.
Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease.
J Clin Endocrinol Metab
; 104(9): 3826-3834, 2019 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30946460
9.
A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated With an SDHC Germline Mutation.
J Clin Endocrinol Metab
; 103(8): 2802-2806, 2018 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29878124
10.
Internal validation of the GlobalFiler™ Express PCR Amplification Kit for the direct amplification of reference DNA samples on a high-throughput automated workflow.
Forensic Sci Int Genet
; 10: 33-39, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24552885
11.
Monoamine oxidase A genotype, childhood adversity, and criminal behavior in an incarcerated sample.
Psychiatr Genet
; 24(4): 164-71, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24983833
12.
Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation.
Endocr Relat Cancer
; 25(9): X3, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30030286
13.
Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation.
Endocr Relat Cancer
; 24(11): L79-L82, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28855235