Detalhe da pesquisa
1.
Comparison of two families with and without ataxia harboring novel variants in PRKCG.
J Hum Genet
; 67(10): 595-599, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35760954
2.
Real-world safety and effectiveness of ledipasvir/sofosbuvir for the treatment of chronic hepatitis C virus genotype 1 in Japan.
J Viral Hepat
; 28(1): 129-141, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32869924
3.
Correction: Comparison of two families with and without ataxia harboring novel variants in PRKCG.
J Hum Genet
; 67(10): 621, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35794208
4.
Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia.
Genes (Basel)
; 15(3)2024 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540356
5.
Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation.
Pituitary
; 15(3): 342-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21744088
6.
Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.
Eur J Endocrinol
; 179(6): 391-407, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30324798
7.
Assessing the emerging oncogene protein kinase C epsilon as a candidate gene in families with Carney complex-2.
Clin Endocrinol (Oxf)
; 76(1): 147-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21649687
8.
[A case of Parkinson's disease following restless genial sensation].
Rinsho Shinkeigaku
; 55(4): 266-8, 2015.
Artigo
em Japonês
| MEDLINE | ID: mdl-25904258
9.
Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.
J Clin Endocrinol Metab
; 100(2): E308-18, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25389632
10.
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.
Endocr Relat Cancer
; 22(1): 65-76, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25425582
11.
Penetrance of functioning and nonfunctioning pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1 in the second decade of life.
J Clin Endocrinol Metab
; 99(1): E89-96, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24178797
12.
p27 variant and corticotropinoma susceptibility: a genetic and in vitro study.
Endocr Relat Cancer
; 21(3): 395-404, 2014 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24532476
13.
Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations.
Eur J Endocrinol
; 171(3): 335-42, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24920291
14.
Polymorphisms in the p27kip-1 and prohibitin genes denote novel genes associated with melanoma risk in Brazil, a high ultraviolet index region.
Melanoma Res
; 23(3): 231-6, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23624368
15.
Narrowing the gap of personalized medicine in emerging countries: the case of multiple endocrine neoplasias in Brazil.
Clinics (Sao Paulo)
; 67 Suppl 1: 3-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22584698
16.
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.
Clinics (Sao Paulo)
; 67 Suppl 1: 57-61, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22584707
17.
Narrowing the gap of personalized medicine in emerging countries: the case of multiple endocrine neoplasias in Brazil
Clinics
; 67(supl.1): 3-6, 2012.
Artigo
em Inglês
| LILACS | ID: lil-623123
18.
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family
Clinics
; 67(supl.1): 57-61, 2012. ilus, tab
Artigo
em Inglês
| LILACS | ID: lil-623132
19.
Análise do gene CDKN1B/p27kip1 em pacientes com neoplasia endócrina múltipla tipo 2 / CDKN1B/p27kip1 gene analysis in patients with multiple endolcrine neopasia type 2 (MEN2)
São Paulo; s.n; 2013. [156] p. ilus, tab, graf.
Tese
em Espanhol
| LILACS | ID: lil-719919