G. Macedo

发表

Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H inTP53

P. Ashton-Prolla, U. Matte, R. Schlatter, 2016, Genetics and molecular biology.

Genetic testing for homologous recombination repair (HRR) in metastatic castration-resistant prostate cancer (mCRPC): challenges and solutions

R. Scott, R. Kanesvaran, A. Mehta, 2021, Oncotarget.

The Genomic Landscape of Male Breast Cancers

Melissa P. Murray, C. Hudis, J. Reis-Filho, 2016, Clinical Cancer Research.

Genetic heterogeneity and actionable mutations in HER2-positive primary breast cancers and their brain metastases

J. Reis-Filho, B. Weigelt, P. Nuciforo, 2018, Oncotarget.

Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome.

P. Hainaut, M. Caleffi, P. Ashton-Prolla, 2016, Cancer genetics.

Genetic profile of Brazilian patients with dystrophinopathies

M. França, U. Matte, A. Nucci, 2017, Clinical genetics.

p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers

M. Caleffi, P. Ashton-Prolla, M. Achatz, 2018, Familial Cancer.

Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil

P. Ashton-Prolla, C. Rosset, C. Netto, 2021, PloS one.

Are acinic cell carcinomas of the breast and salivary glands distinct diseases?

Salvatore Piscuoglio, Marcia Edelweiss, Ian O Ellis, 2015, Histopathology.

Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era

P. Ashton-Prolla, G. Macedo, Bárbara Alemar, 2019, Genetics and molecular biology.

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

P. Ashton-Prolla, D. Schramek, M. Achatz, 2021, Frontiers in Genetics.

Increased Oxidative Damage in Carriers of the Germline TP53 p.R337H Mutation

P. Hainaut, F. Klamt, C. Vargas, 2012, PloS one.

Massively parallel sequencing of phyllodes tumours of the breast reveals actionable mutations, and TERT promoter hotspot mutations and TERT gene amplification as likely drivers of progression

M. Ladanyi, J. Reis-Filho, L. Norton, 2016, The Journal of pathology.

Uterine adenosarcomas are mesenchymal neoplasms

J. Reis-Filho, D. Levine, B. Weigelt, 2016, The Journal of pathology.

Male breast cancer : genomic profiling 1 The Genomic Landscape of Male Breast Cancers

Melissa P. Murray, Sakr, C. Hudis, 2016 .

Analysis of Predictive Biomarkers in Patients With Lung Adenocarcinoma From Southern Brazil Reveals a Distinct Profile From Other Regions of the Country

P. Ashton-Prolla, S. Leistner-Segal, G. Macedo, 2019, Journal of global oncology.

miRNA-21 and miRNA-34a Are Potential Minimally Invasive Biomarkers for the Diagnosis of Pancreatic Ductal Adenocarcinoma

P. Ashton-Prolla, U. Matte, G. Macedo, 2016, Pancreas.

A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.

J. Nunes, A. Brusius-Facchin, G. Macedo, 2021, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling

P. Ashton-Prolla, H. Galvão, E. Palmero, 2019, Familial Cancer.

Genetic Variations in the TP53 Pathway in Native Americans Strongly Suggest Adaptation to the High Altitudes of the Andes

M. Bortolini, F. Salzano, M. Petzl-Erler, 2015, PloS one.

Massively Parallel Sequencing-Based Clonality Analysis of Synchronous Endometrioid Endometrial and Ovarian Carcinomas.

A. Viale, J. Reis-Filho, B. Weigelt, 2015, Journal of the National Cancer Institute.

Genetic analysis of a morphologically heterogeneous ovarian endometrioid carcinoma

J. Reis-Filho, B. Weigelt, R. Lim, 2017, Histopathology.

Polymorphisms of the UCP2 gene are associated with proliferative diabetic retinopathy in patients with diabetes mellitus

N. Fagundes, J. Gross, L. Canani, 2010, Clinical endocrinology.

Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil

R. Bakos, L. Bakos, L. B. Reis, 2020, BMC Cancer.

The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis

L. Schuler‐Faccini, M. Sanseverino, L. R. Fraga, 2019, Scientific Reports.

MIR605 rs2043556 is associated with the occurrence of multiple primary tumors in TP53 p.(Arg337His) mutation carriers.

P. Ashton-Prolla, M. Achatz, K. Santiago, 2019, Cancer genetics.

Genomic characterization of small cell carcinomas of the uterine cervix

J. Reis-Filho, B. Weigelt, E. Wardelmann, 2021, Molecular oncology.

TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling

P. Ashton-Prolla, H. Galvão, E. Palmero, 2019, Familial Cancer.

Massively parallel sequencing of phyllodes tumours of the breast reveals actionable mutations, and TERT promoter hotspot mutations and TERT gene amplification as likely drivers of progression

Melissa P. Murray, M. Ladanyi, J. Reis-Filho, 2016, The Journal of pathology.

Uterine adenosarcomas are mesenchymal neoplasms

J. Reis-Filho, D. Levine, B. Weigelt, 2016, The Journal of pathology.