Detalhe da pesquisa
1.
Lynch syndrome identification in a Brazilian cohort of endometrial cancer screened by a universal approach.
Gynecol Oncol
; 159(1): 229-238, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32694065
2.
First description of ultramutated endometrial cancer caused by germline loss-of-function and somatic exonuclease domain mutations in POLE gene.
Genet Mol Biol
; 43(4): e20200100, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33001133
3.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Am J Hum Genet
; 97(1): 99-110, 2015 Jul 02.
Artigo
Inglês
| MEDLINE | ID: mdl-26119818
4.
Genetic education, knowledge and experiences between nurses and physicians in primary care in Brazil: A cross-sectional study.
Nurs Health Sci
; 19(1): 66-74, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-27510609
5.
Self-reported cancer family history is a useful tool for identification of individuals at risk of hereditary cancer predisposition syndrome at primary care centers in middle-income settings: a longitudinal study.
Genet Mol Biol
; 39(2): 178-83, 2016 Jun 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27275666
6.
TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families.
Hered Cancer Clin Pract
; 12(1): 8, 2014 Mar 13.
Artigo
Inglês
| MEDLINE | ID: mdl-24625245
7.
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.
Am J Med Genet A
; 161A(12): 3012-7, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24115501
8.
[Perception of cancer causes and risk, family history and preventive behaviors of users in oncogenetic counseling]. / Percepção de causas e risco oncológico, história familiar e comportamentos preventivos de usuários em aconselhamento oncogenético.
Rev Esc Enferm USP
; 47(2): 377-84, 2013 Apr.
Artigo
Português
| MEDLINE | ID: mdl-23743904
9.
Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer.
Genes (Basel)
; 14(11)2023 Oct 26.
Artigo
Inglês
| MEDLINE | ID: mdl-38002942
10.
Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries.
BMC Cancer
; 12: 64, 2012 Feb 09.
Artigo
Inglês
| MEDLINE | ID: mdl-22321913
11.
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).
Orphanet J Rare Dis
; 17(1): 84, 2022 02 24.
Artigo
Inglês
| MEDLINE | ID: mdl-35209917
12.
Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1.
Brain Behav
; 12(6): e2599, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35506373
13.
Health Policies for Rare Disease Patients: A Scoping Review.
Int J Environ Res Public Health
; 19(22)2022 11 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36429893
14.
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
BMC Med Genomics
; 13(1): 21, 2020 02 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32039725
15.
Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations.
Int J Biol Markers
; 34(1): 80-89, 2019 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-30852976
16.
Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?
Am J Med Genet A
; 146A(13): 1741-7, 2008 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-18546277
17.
Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort.
BMC Res Notes
; 11(1): 546, 2018 Aug 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30068397
18.
Implementação de um programa de mentoring para estudantes de graduação em saúde: a experiência da FMRP-USP / Implementation of a mentoring program for undergraduate health students: the experience of FMRP-USP
Rev. bras. educ. méd
; 45(supl.1): e115, 2021. graf
Artigo
Português
| LILACS | ID: biblio-1279871
19.
The breast cancer immunophenotype of TP53-p.R337H carriers is different from that observed among other pathogenic TP53 mutation carriers.
Fam Cancer
; 14(2): 333-6, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25564201
20.
Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.
PLoS One
; 10(5): e0127147, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25978063