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Patricia Ashton-Prolla
Patricia Ashton-Prolla
Universidade Federal do Rio Grande do Sul, Hospital de Clinicas de Porto Alegre
Geverifieerd e-mailadres voor hcpa.edu.br
Titel
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The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families
MIW Achatz, M Olivier, F Le Calvez, G Martel-Planche, A Lopes, BM Rossi, ...
Cancer letters 245 (1-2), 96-102, 2007
2262007
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
P Ashton-Prolla, B Tong, J Shabbeer, KH Astrin, CM Eng, RJ Desnick
Journal of investigative medicine: the official publication of the American …, 2000
1742000
Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect
S Garritano, F Gemignani, EI Palmero, M Olivier, G Martel‐Planche, ...
Human mutation 31 (2), 143-150, 2010
1622010
Thalidomide, a current teratogen in South America
EE Castilla, P Ashton‐Prolla, E Barreda‐Mejia, D Brunoni, DP Cavalcanti, ...
Teratology 54 (6), 273-277, 1996
1491996
TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
C Rosset, CBO Netto, P Ashton-Prolla
Genetics and molecular biology 40, 69-79, 2017
1382017
Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil
EI Palmero, L Schüler-Faccini, M Caleffi, MIW Achatz, M Olivier, ...
Cancer letters 261 (1), 21-25, 2008
1332008
Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome
EI Palmero, MIW Achatz, P Ashton-Prolla, M Olivier, P Hainaut
Current opinion in oncology 22 (1), 64-69, 2010
1262010
Genomic rearrangements in BRCA1 and BRCA2: A literature review
IP Ewald, PLI Ribeiro, EI Palmero, SL Cossio, R Giugliani, ...
Genetics and Molecular Biology 32, 437-446, 2009
1262009
An alternative protocol for DNA extraction from formalin fixed and paraffin wax embedded tissue
R Coura, JC Prolla, L Meurer, P Ashton-Prolla
Journal of Clinical Pathology 58 (8), 894-895, 2005
1162005
Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care
P Ashton-Prolla, J Giacomazzi, AV Schmidt, FL Roth, EI Palmero, ...
BMC cancer 9, 1-9, 2009
1042009
Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled study
L Schüler, A Pastuszak, MTV Sanseverino, IM Orioliz, D Brunoni, ...
Reproductive Toxicology 13 (2), 147-151, 1999
1011999
Conocimiento del cáncer de mama y cáncer de mama hereditario en el personal de enfermería de un hospital público
CMD Prolla, PS Silva, CBO Netto, JR Goldim, P Ashton-Prolla
Revista latino-americana de enfermagem 23, 90-97, 2015
932015
Impact of β1-adrenergic receptor polymorphisms on susceptibility to heart failure, arrhythmogenesis, prognosis, and response to beta-blocker therapy
A Biolo, N Clausell, KG Santos, R Salvaro, P Ashton-Prolla, A Borges, ...
The American journal of cardiology 102 (6), 726-732, 2008
872008
TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li–Fraumeni syndrome: impact on age at first diagnosis
V Marcel, EI Palmero, P Falagan-Lotsch, G Martel-Planche, ...
Journal of medical genetics 46 (11), 766-772, 2009
822009
Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice
B Leroy, ML Ballinger, F Baran-Marszak, GL Bond, A Braithwaite, ...
Cancer research 77 (6), 1250-1260, 2017
812017
Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?
MIW Achatz, P Hainaut, P Ashton-Prolla
The lancet oncology 10 (9), 920-925, 2009
802009
PRIMA-1, a mutant p53 reactivator, induces apoptosis and enhances chemotherapeutic cytotoxicity in pancreatic cancer cell lines
P Izetti, A Hautefeuille, AL Abujamra, CB de Farias, J Giacomazzi, ...
Investigational new drugs 32, 783-794, 2014
772014
The germline mutational landscape of BRCA1 and BRCA2 in Brazil
EI Palmero, DM Carraro, B Alemar, MAM Moreira, A Ribeiro-dos-Santos, ...
Scientific reports 8 (1), 9188, 2018
752018
Prevalence of the TP53 p. R337H mutation in breast cancer patients in Brazil
J Giacomazzi, MS Graudenz, CABT Osorio, P Koehler-Santos, EI Palmero, ...
PloS one 9 (6), e99893, 2014
712014
miRNA-21 and miRNA-34a are potential minimally invasive biomarkers for the diagnosis of pancreatic ductal adenocarcinoma
B Alemar, P Izetti, C Gregorio, GS Macedo, MAA Castro, AB Osvaldt, ...
Pancreas 45 (1), 84-92, 2016
702016
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