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
8592007
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
1882017
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
1862007
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
1242010
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
1082011
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
1022010
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
1022008
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), 1-8, 2012
1012012
Clinical significance of increased plasma concentration of macrophage colony–stimulating factor in patients with angina pectoris
T Saitoh, H Kishida, Y Tsukada, Y Fukuma, J Sano, M Yasutake, ...
Journal of the American College of Cardiology 35 (3), 655-665, 2000
922000
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
902017
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
752017
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
752012
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
742017
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
732009
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
612009
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), 55, 2014
602014
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li–Fraumeni syndrome
A Amadou, MI Waddington Achatz, P Hainaut
Current opinion in oncology 30 (1), 23-29, 2018
512018
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
492015
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
432017
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
392014
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مقالات 1–20