検索結果 - Maria Isabel Achatz

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  1. 1
    The Inherited p53 Mutation in the Brazilian Population

    The Inherited p53 Mutation in the Brazilian Population 著者: Maria Isabel Achatz, Gerard P. Zambetti

    出版事項 2016
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  2. 2
    CN4 Duty to recontact patients previously tested with negative results in a hereditary cancer syndrome center

    CN4 Duty to recontact patients previously tested with negative results in a hereditary cancer syndrome center 著者: Maria Isabel Achatz, Janina Pontes Pisani, Carla Vanessa Quirino

    出版事項 2020
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  3. 3
    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 著者: Isadora A. Frankenthal, Mariana Cartaxo Alves, Casey Tak, Maria Isabel Achatz

    出版事項 2022
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  4. 4
    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 著者: Jesus Paula Carvalho, Auro del Giglio, Maria Isabel Achatz, Filomena Marino Carvalho

    出版事項 2020
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  5. 5
    Frequency of Thyroid Carcinoma in Brazilian <i>TP53 </i>p.R337H Carriers With Li Fraumeni Syndrome

    Frequency of Thyroid Carcinoma in Brazilian <i>TP53 </i>p.R337H Carriers With Li Fraumeni Syndrome 著者: Maria Nirvana Formiga, Kelvin C. de Andrade, Luiz Paulo Kowalski, Maria Isabel Achatz

    出版事項 2017
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  6. 6
    Optimizing Shared Decision-Making for Risk-Reducing Mastectomy in Women with Li-Fraumeni Syndrome Using Patient-Reported Outcome Measures

    Optimizing Shared Decision-Making for Risk-Reducing Mastectomy in Women with Li-Fraumeni Syndrome Using Patient-Reported Outcome Measures 著者: Natália Polidorio, Renata Lazari Sandoval, Pâmela Bioni, Janina Pontes Pisani, Maria Isabel Achatz

    出版事項 2024
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  7. 7
    Optimizing shared decision-making for risk-reducing mastectomy in women with Li–Fraumeni syndrome using patient-reported outcome measures

    Optimizing shared decision-making for risk-reducing mastectomy in women with Li–Fraumeni syndrome using patient-reported outcome measures 著者: Natália Polidorio, Renata Lazari Sandoval, Pâmela Bioni, Janina Pontes Pisani, Maria Isabel Achatz

    出版事項 2025
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  8. 8
    Number of rare germline CNVs and TP53 mutation types

    Number of rare germline CNVs and TP53 mutation types 著者: Amanda G Silva, Maria Isabel Achatz, Ana Cristina Victorino Krepischi, P. Pearson, Carla Rosenberg

    出版事項 2012
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  9. 9
    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 著者: Thais Baccili Cury Megid, Mateus Camargo Barros‐Filho, Janina Pontes Pisani, Maria Isabel Achatz

    出版事項 2022
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  10. 10
    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 著者: Karina Miranda Santiago, Amanda França de Nóbrega, Rafael Malagoli Rocha, Sílvia Regina Rogatto, Maria Isabel Achatz

    出版事項 2015
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  11. 11
    The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations

    The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations 著者: Amanda G Silva, Ana Cristina Victorino Krepischi, P. Pearson, Pierre Hainaut, Carla Rosenberg, Maria Isabel Achatz

    出版事項 2014
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  12. 12
    DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations

    DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations 著者: Antonio F. Fortes, Hellen Kuasne, Fábio Albuquerque Marchi, P.M. Miranda, Sílvia Regina Rogatto, Maria Isabel Achatz

    出版事項 2015
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  13. 13
    Reproductive factors associated with breast cancer risk in Li–Fraumeni syndrome

    Reproductive factors associated with breast cancer risk in Li–Fraumeni syndrome 著者: Payal P. Khincha, Ana F. Best, Joseph F. Fraumeni, Jennifer T. Loud, Sharon A. Savage, Maria Isabel Achatz

    出版事項 2019
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  14. 14
    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 著者: Daniele Paixão, Marcos Duarte Guimarães, Kelvin C. de Andrade, Amanda França de Nóbrega, Rubens Chojniak, Maria Isabel Achatz

    出版事項 2018
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  15. 15
    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 著者: Maria Isabel Achatz, Maira Caleffi, Rodrigo Santa Cruz Guindalini, Renato Moretti‐Marques, Angélica Nogueira‐Rodrigues, Patrícia Ashton‐Prolla

    出版事項 2020
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  16. 16
    Prevalence of the Brazilian TP53 Founder c.1010G&gt;A (p.Arg337His) in Lung Adenocarcinoma: Is Genotyping Warranted in All Brazilian Patients?

    Prevalence of the Brazilian TP53 Founder c.1010G&gt;A (p.Arg337His) in Lung Adenocarcinoma: Is Genotyping Warranted in All Brazilian Patients? 著者: Igor Araújo Vieira, Tiago Finger Andreis, Bruna Fernandes, Maria Isabel Achatz, Gabriel S. Macedo, Daniel Schramek, Patrícia Ashton‐Prolla

    出版事項 2021
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  17. 17
    Integration of Genomics in Cancer Care

    Integration of Genomics in Cancer Care 著者: Érika Maria Monteiro Santos, Quannetta T. Edwards, Milena Flória‐Santos, Sílvia Regina Rogatto, Maria Isabel Achatz, Deborah J. MacDonald

    出版事項 2013
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  18. 18
    Heterozygous deleterious MUTYH variants as a driver for tumorigenesis

    Heterozygous deleterious MUTYH variants as a driver for tumorigenesis 著者: Rodrigo Barreiro, Jorge Sabbaga, Mauro Rossi, Maria Isabel Achatz, Anamaria A. Camargo, Paula Fontes Asprino, Pedro A. F. Galante

    出版事項 2021
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  19. 19
    Oral and maxillofacial considerations in Gardner’s syndrome: a report of two cases

    Oral and maxillofacial considerations in Gardner’s syndrome: a report of two cases 著者: Débora Lima Pereira, PAULO ANDRÉ GONÇALVES DE CARVALHO, Maria Isabel Achatz, AndréCaroli Rocha, Giovana Tardin Torrezan, Fábio Abreu Alves

    出版事項 2016
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  20. 20
    Keratocystic odontogenic tumor related to nevoid basal cell carcinoma syndrome: clinicopathological study

    Keratocystic odontogenic tumor related to nevoid basal cell carcinoma syndrome: clinicopathological study 著者: Luana Eschholz Bomfin, ANA PAULA MOLINA VIVAS, André Caroli Rocha, Maria Isabel Achatz, Clóvis Antônio Lopes Pinto, Fábio Abreu Alves

    出版事項 2013
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