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Maria Isabel Achatz

Showing results (41-50 of 71) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 10, 2011
Gastric cancer in individuals with Li-Fraumeni syndromeSerena Masciari, Akriti Dewanwala, Elena M Stoffel, et al.
Carcinogenesis|December 17, 2013
Age at cancer onset in germline TP53 mutation carriers: association with polymorphisms in predicted G-quadruplex structuresCharlotte Sagne, Virginie Marcel, Maria Bota, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 15, 2014
Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndromeHany Ariffin, Pierre Hainaut, Anna Puzio-Kuter, et al.
Journal of the National Cancer Institute|April 3, 2024
TP53-associated early breast cancer: new observations from a large cohortRenata L Sandoval, Michele Bottosso, Li Tianyu, et al.
Lancet Regional Health. Americas|February 3, 2025
Personalized screening strategies for <i>TP53</i> R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriersPedro A F Galante, Gabriela D A Guardia, Janina Pisani, et al.
JCO Global Oncology|July 22, 2022
Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional StudyCarlos Andrés Ossa Gomez, Maria Isabel Achatz, Mabel Hurtado, et al.
JCO Global Oncology|July 16, 2021
Identification of the <i>TP53</i> p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni SyndromeRenata Lazari Sandoval, Cibele Masotti, Mariana Petaccia de Macedo, et al.
Human Mutation|June 3, 2020
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelinesCristina Fortuno, Jessica Mester, Tina Pesaran, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|January 4, 2024
Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology GuidelineIsabelle Bedrosian, Mark R Somerfield, Maria Isabel Achatz, et al.
Plos One|October 3, 2017
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosisClévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, et al.
Pageof 8

Showing results (41-50 of 71) with videos related to

Sort By:
Pageof 8
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 10, 2011
Gastric cancer in individuals with Li-Fraumeni syndromeSerena Masciari, Akriti Dewanwala, Elena M Stoffel, et al.
Carcinogenesis|December 17, 2013
Age at cancer onset in germline TP53 mutation carriers: association with polymorphisms in predicted G-quadruplex structuresCharlotte Sagne, Virginie Marcel, Maria Bota, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 15, 2014
Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndromeHany Ariffin, Pierre Hainaut, Anna Puzio-Kuter, et al.
Journal of the National Cancer Institute|April 3, 2024
TP53-associated early breast cancer: new observations from a large cohortRenata L Sandoval, Michele Bottosso, Li Tianyu, et al.
Lancet Regional Health. Americas|February 3, 2025
Personalized screening strategies for <i>TP53</i> R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriersPedro A F Galante, Gabriela D A Guardia, Janina Pisani, et al.
JCO Global Oncology|July 22, 2022
Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional StudyCarlos Andrés Ossa Gomez, Maria Isabel Achatz, Mabel Hurtado, et al.
JCO Global Oncology|July 16, 2021
Identification of the <i>TP53</i> p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni SyndromeRenata Lazari Sandoval, Cibele Masotti, Mariana Petaccia de Macedo, et al.
Human Mutation|June 3, 2020
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelinesCristina Fortuno, Jessica Mester, Tina Pesaran, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|January 4, 2024
Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology GuidelineIsabelle Bedrosian, Mark R Somerfield, Maria Isabel Achatz, et al.
Plos One|October 3, 2017
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosisClévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, et al.
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