Hasil Pencarian - Maria Isabel Achatz

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  1. 1
    Cancer surveillance for patients with Li-Fraumeni Syndrome in Brazil: A cost-effectiveness analysis

    Cancer surveillance for patients with Li-Fraumeni Syndrome in Brazil: A cost-effectiveness analysis oleh Isadora A. Frankenthal, Mariana Cartaxo Alves, Casey Tak, Maria Isabel Achatz

    Diterbitkan 2022-08-01
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  2. 2
    Complete Clinical Response in Stage IVB Endometrioid Endometrial Carcinoma after First-Line Pembrolizumab Therapy: Report of a Case with Isolated Loss of PMS2 Protein

    Complete Clinical Response in Stage IVB Endometrioid Endometrial Carcinoma after First-Line Pembrolizumab Therapy: Report of a Case with Isolated Loss of PMS2 Protein oleh Jesus Paula Carvalho, Auro Del Giglio, Maria Isabel Achatz, Filomena Marino Carvalho

    Diterbitkan 2020-09-01
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  3. 3
    Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer

    Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer oleh Thais Baccili Cury Megid, Mateus C. Barros-Filho, Janina Pontes Pisani, Maria Isabel Achatz

    Diterbitkan 2022-08-01
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  4. 4
    Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population

    Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population oleh Karina Miranda Santiago, Amanda França de Nóbrega, Rafael Malagoli Rocha, Silvia Regina Rogatto, Maria Isabel Achatz

    Diterbitkan 2015-04-01
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  5. 5
    Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil

    Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil oleh Maria Isabel Achatz, Maira Caleffi, Rodrigo Guindalini, Renato Moretti Marques, Angelica Nogueira-Rodrigues, Patricia Ashton-Prolla

    Diterbitkan 2020-11-01
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  6. 6
    Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients

    Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients oleh Daniele Paixão, Marcos Duarte Guimarães, Kelvin César de Andrade, Amanda França Nóbrega, Rubens Chojniak, Maria Isabel Achatz

    Diterbitkan 2018-08-01
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  7. 7
    Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance

    Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance oleh Ana Milena Gómez, Diogo Cordeiro Soares, Alexandre André Balieiro Costa, Daniele Paixão Pereira, Maria Isabel Achatz, Maria Nirvana Formiga

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  8. 8
    Novel Insights From the Germline Landscape of Breast Cancer in Brazil

    Novel Insights From the Germline Landscape of Breast Cancer in Brazil oleh Daniel Barbalho, Renata Sandoval, Erika Santos, Janina Pisani, Carla Quirino, Bernardo Garicochea, Bernardo Garicochea, Benedito Rossi, Maria Isabel Achatz

    Diterbitkan 2022-01-01
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  9. 9
    Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p.

    Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p. oleh Diego Davila Paskulin, Juliana Giacomazzi, Maria Isabel Achatz, Sandra Costa, Rui Manoel Reis, Pierre Hainaut, Sidney Emanuel Batista dos Santos, Patricia Ashton-Prolla

    Diterbitkan 2015-01-01
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  10. 10
    Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants

    Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants oleh Ana Carolina Leite Vieira Costa Gifoni, Markus Andret Cavalcante Gifoni, Camila Martins Wotroba, Edenir Inez Palmero, Eduardo Leite Vieira Costa, Wellington dos Santos, Maria Isabel Achatz

    Diterbitkan 2022-07-01
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  11. 11
    Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature

    Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature oleh Leandro Jonata Carvalho Oliveira, Aline Bobato Lara Gongora, Fabiola Ambrosio Silveira Lima, Felipe Sales Nogueira Amorim Canedo, Carla Vanessa Quirino, Janina Pontes Pisani, Maria Isabel Achatz, Benedito Mauro Rossi

    Diterbitkan 2021-07-01
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  12. 12
    Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer

    Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer oleh Rolando André Rios Villacis, Luiza Côrtes, Tatiane Ramos Basso, Luisa Matos do Canto, Jeferson Santos Souza, Mads Malik Aagaard, Maria Nirvana da Cruz Formiga, Samuel Aguiar, Maria Isabel Achatz, Silvia Regina Rogatto

    Diterbitkan 2024-09-01
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  13. 13
    Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers

    Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers oleh Renata Lazari Sandoval, Natalia Polidorio, Ana Carolina Rathsam Leite, Mariana Cartaxo, Janina Pontes Pisani, Carla Vanessa Quirino, Loureno Cezana, Natálya Gonçalves Pereira, Allan Andresson Lima Pereira, Benedito Mauro Rossi, Benedito Mauro Rossi, Maria Isabel Achatz

    Diterbitkan 2022-03-01
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  14. 14
    The Clinical and Molecular Profile of Lung Cancer Patients Harboring the <i>TP53</i> R337H Germline Variant in a Brazilian Cancer Center: The Possible Mechanism of Carcinogenesis

    The Clinical and Molecular Profile of Lung Cancer Patients Harboring the <i>TP53</i> R337H Germline Variant in a Brazilian Cancer Center: The Possible Mechanism of Carcinogenesis oleh Carlos D. H. Lopes, Fernanda F. Antonacio, Priscila M. G. Moraes, Paula F. Asprino, Pedro A. F. Galante, Denis L. Jardim, Mariana P. de Macedo, Renata L. Sandoval, Artur Katz, Gilberto de Castro, Maria Isabel Achatz

    Diterbitkan 2023-10-01
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  15. 15
    Prevalence of the Brazilian TP53 Founder c.1010G>A (p.Arg337His) in Lung Adenocarcinoma: Is Genotyping Warranted in All Brazilian Patients?

    Prevalence of the Brazilian TP53 Founder c.1010G>A (p.Arg337His) in Lung Adenocarcinoma: Is Genotyping Warranted in All Brazilian Patients? oleh Igor Araujo Vieira, Igor Araujo Vieira, Tiago Finger Andreis, Tiago Finger Andreis, Bruna Vieira Fernandes, Bruna Vieira Fernandes, Maria Isabel Achatz, Gabriel S. Macedo, Gabriel S. Macedo, Daniel Schramek, Daniel Schramek, Patricia Ashton-Prolla, Patricia Ashton-Prolla, Patricia Ashton-Prolla

    Diterbitkan 2021-02-01
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  16. 16
    Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.

    Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis. oleh Renata Lazari Sandoval, Ana Carolina Rathsam Leite, Daniel Meirelles Barbalho, Daniele Xavier Assad, Romualdo Barroso, Natalia Polidorio, Carlos Henrique Dos Anjos, Andréa Discaciati de Miranda, Ana Carolina Salles de Mendonça Ferreira, Gustavo Dos Santos Fernandes, Maria Isabel Achatz

    Diterbitkan 2021-01-01
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  17. 17
    Genomic profiling in ovarian cancer retreated with platinum based chemotherapy presented homologous recombination deficiency and copy number imbalances of CCNE1 and RB1 genes

    Genomic profiling in ovarian cancer retreated with platinum based chemotherapy presented homologous recombination deficiency and copy number imbalances of CCNE1 and RB1 genes oleh Alexandre A. B. A. da Costa, Luisa M. do Canto, Simon Jonas Larsen, Adriana Regina Gonçalves Ribeiro, Carlos Eduardo Stecca, Annabeth Høgh Petersen, Mads M. Aagaard, Louise de Brot, Jan Baumbach, Glauco Baiocchi, Maria Isabel Achatz, Silvia Regina Rogatto

    Diterbitkan 2019-05-01
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  18. 18
    Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome

    Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome oleh Nayê Balzan Schneider, Tatiane Pastor, André Escremim de Paula, Maria Isabel Achatz, Ândrea Ribeiro dos Santos, Fernanda Sales Luiz Vianna, Clévia Rosset, Manuela Pinheiro, Patricia Ashton‐Prolla, Miguel Ângelo Martins Moreira, Edenir Inêz Palmero, Brazilian Lynch Syndrome Study Group

    Diterbitkan 2018-05-01
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  19. 19
    Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study

    Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study oleh Carlos Andrés Ossa Gomez, Maria Isabel Achatz, Mabel Hurtado, María Carolina Sanabria-Salas, Yasser Sullcahuaman, Yanin Chávarri-Guerra, Julie Dutil, Sarah M. Nielsen, Edward D. Esplin, Scott T. Michalski, Sara L. Bristow, Kathryn E. Hatchell, Robert L. Nussbaum, Daniel E. Pineda-Alvarez, Patricia Ashton-Prolla

    Diterbitkan 2022-07-01
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  20. 20
    Identification of the TP53 p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni Syndrome

    Identification of the TP53 p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni Syndrome oleh Renata Lazari Sandoval, Cibele Masotti, Mariana Petaccia de Macedo, Maurício Fernando Silva Almeida Ribeiro, Ana Carolina Rathsam Leite, Sibele Inacio Meireles, Rodrigo Medeiros Bovolin, Fernando Costa Santini, Rodrigo Ramella Munhoz, Denis Leonardo Fontes Jardim, Artur Katz, Anamaria Aranha Camargo, Gustavo dos Santos Fernandes, Maria Isabel Achatz

    Diterbitkan 2021-12-01
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