متابعة
Maria Isabel Waddington Achatz, MD, PhD
Maria Isabel Waddington Achatz, MD, PhD
Coordinator, Cancer Genetics Unit, Hospital Sírio-Libanês
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عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes
A Petitjean, MIW Achatz, AL Borresen-Dale, P Hainaut, M Olivier
Oncogene 26 (15), 2157-2165, 2007
11092007
Cancer screening recommendations for individuals with Li-Fraumeni syndrome
CP Kratz, MI Achatz, L Brugieres, T Frebourg, JE Garber, MLC Greer, ...
Clinical Cancer Research 23 (11), e38-e45, 2017
4522017
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
Clinical management and tumor surveillance recommendations of inherited mismatch repair deficiency in childhood
U Tabori, JR Hansford, MI Achatz, CP Kratz, SE Plon, T Frebourg, ...
Clinical Cancer Research 23 (11), e32-e37, 2017
1982017
Baseline surveillance in Li-Fraumeni syndrome using whole-body magnetic resonance imaging: a meta-analysis
ML Ballinger, A Best, PL Mai, PP Khincha, JT Loud, JA Peters, MI Achatz, ...
JAMA oncology 3 (12), 1634-1639, 2017
1712017
Gastric cancer in individuals with Li-Fraumeni syndrome
S Masciari, A Dewanwala, EM Stoffel, GY Lauwers, H Zheng, MI Achatz, ...
Genetics in Medicine 13 (7), 651-657, 2011
1632011
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
PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood
KAP Schultz, SP Rednam, J Kamihara, L Doros, MI Achatz, ...
Clinical Cancer Research 23 (12), e76-e82, 2017
1602017
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
Germline DNA copy number variation in familial and early-onset breast cancer
ACV Krepischi, MIW Achatz, EMM Santos, SS Costa, BCG Lisboa, ...
Breast Cancer Research 14, 1-8, 2012
1322012
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, 2010
1262010
Cancer screening recommendations and clinical management of inherited gastrointestinal cancer syndromes in childhood
MI Achatz, CC Porter, L Brugières, H Druker, T Frebourg, WD Foulkes, ...
Clinical Cancer Research 23 (13), e107-e114, 2017
1202017
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium
PL Mai, D Malkin, JE Garber, JD Schiffman, JN Weitzel, LC Strong, ...
Cancer genetics 205 (10), 479-487, 2012
1082012
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients
FC Silva, BCG Lisboa, MCP Figueiredo, GT Torrezan, ÉMM Santos, ...
BMC medical genetics 15, 1-11, 2014
1002014
Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis
KC de Andrade, MN Frone, T Wegman‐Ostrosky, PP Khincha, J Kim, ...
Human mutation 40 (1), 97-105, 2019
902019
Molecular characterization of choroid plexus tumors reveals novel clinically relevant subgroups
DM Merino, A Shlien, A Villani, M Pienkowska, S Mack, V Ramaswamy, ...
Clinical Cancer Research 21 (1), 184-192, 2015
882015
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
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
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
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مقالات 1–20