Detalhe da pesquisa
1.
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
Hum Genet
; 142(11): 1571-1586, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37755482
2.
Elevated holo-transcobalamin in Gaucher disease type II: A case report.
Am J Med Genet A
; 185(8): 2471-2476, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34031990
3.
Influence of CYP19A1 polymorphisms on the treatment of breast cancer with aromatase inhibitors: a systematic review and meta-analysis.
BMC Med
; 13: 139, 2015 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26067721
4.
Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI.
J Inherit Metab Dis
; 36(2): 357-62, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23179553
5.
Challenges in periodic revision of genetic testing results: Comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 variants of uncertain significance.
Gene
; 862: 147281, 2023 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36775216
6.
A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity.
Genet Mol Biol
; 35(2): 424-7, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22888290
7.
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Front Genet
; 13: 858396, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35495172
8.
Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI.
Mol Genet Metab
; 103(2): 197-8, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21427013
9.
Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil.
PLoS One
; 16(9): e0251639, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34529667
10.
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.
J Inherit Metab Dis
; 33 Suppl 3: S257-62, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20596894
11.
Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient.
Metab Brain Dis
; 24(3): 493-500, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19697114
12.
TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling.
Fam Cancer
; 18(4): 451-456, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31321604
13.
Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
PLoS One
; 13(5): e0197529, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750819
14.
Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast.
Cancer Genet
; 228-229: 93-97, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30553478
15.
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Mol Genet Genomic Med
; 6(2): 160-170, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29352562
16.
The germline mutational landscape of BRCA1 and BRCA2 in Brazil.
Sci Rep
; 8(1): 9188, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907814
17.
Leprosy in Southern Brazil: a twenty-year epidemiological profile.
Rev Soc Bras Med Trop
; 50(2): 251-255, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28562765
18.
Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.
PLoS One
; 12(8): e0184065, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28859139
19.
BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
PLoS One
; 12(11): e0187630, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29161300
20.
SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM? / IRMÃOS AFETADOS PELA SÍNDROME DE ECTRODACTILIA, DISPLASIA ECTODÉRMICA E FISSURA LABIOPALATAL (EEC) COM PAIS HÍGIDOS: MOSAICISMO GERMINATIVO?
Rev Paul Pediatr
; 35(2): 234-238, 2017.
Artigo
em Português, Inglês
| MEDLINE | ID: mdl-28977327