Search Results - "Nussenzveig, Roberto H."
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Clinical utility of next‐generation sequencing in the diagnosis of hereditary haemolytic anaemias
Published in British journal of haematology (01-09-2016)“…Summary Hereditary haemolytic anaemias are genetically and phenotypically heterogeneous disorders characterized by increased red cell destruction, with…”
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2
Genomic landscape of advanced prostate cancer patients with BRCA1 versus BRCA2 mutations as detected by comprehensive genomic profiling of cell-free DNA
Published in Frontiers in oncology (15-09-2022)“…-mutated prostate cancer has been shown to be less responsive to poly (ADP-ribose) polymerase (PARP) inhibitors as compared to -mutated prostate cancer. The…”
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3
Quest for Ideal Composite Biomarkers for Response to Immunotherapies
Published in Clinical cancer research (01-10-2020)“…In the CheckMate 275 study, composite biomarkers appear to better predict response to immunotherapy over individual ones. Nevertheless, the path forward needs…”
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4
Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects
Published in Haematologica (Roma) (01-12-2013)“…Hereditary pyropoikilocytosis is a severe hemolytic anemia caused by spectrin deficiency and defective spectrin dimer self-association, typically found in…”
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SPOP Mutations as a Predictive Biomarker for Androgen Receptor Axis-Targeted Therapy in De Novo Metastatic Castration-Sensitive Prostate Cancer
Published in Clinical cancer research (14-11-2022)“…Intensification of androgen deprivation therapy (ADT) with either docetaxel or androgen receptor axis-targeted therapies (ARAT) are the current standard of…”
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6
Revisiting AJCC TNM staging for renal cell carcinoma: quest for improvement
Published in Annals of translational medicine (01-03-2019)Get full text
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7
External Validation of Association of Baseline Circulating Tumor Cell Counts with Survival Outcomes in Men with Metastatic Castration-Sensitive Prostate Cancer
Published in Molecular cancer therapeutics (02-12-2022)“…Approximately 20% of men with metastatic castration-sensitive prostate cancer (mCSPC) progress within 1 year of treatment, and biomarkers to identify them up…”
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JAK2 V617F mutation is uncommon in patients with the 3q21q26 syndrome
Published in Human pathology (01-05-2010)“…Summary The 3q21q26 syndrome is recognized as a distinct clinicopathologic entity. Patients have a myeloid neoplasm associated with 3q21q26 cytogenetic…”
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Characterization of metastatic urothelial carcinoma via comprehensive genomic profiling of circulating tumor DNA
Published in Cancer (15-05-2018)“…BACKGROUND Biomarker‐guided clinical trials are increasingly common in metastatic urothelial carcinoma (mUC), yet patients for whom contemporary tumor tissue…”
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10
Comprehensive Analysis of AR Alterations in Circulating Tumor DNA from Patients with Advanced Prostate Cancer
Published in The oncologist (Dayton, Ohio) (01-04-2020)“…Background Somatic alterations in circulating tumor DNA (ctDNA) may be associated with treatment response or prognosis in prostate cancer (PCa). The goal was…”
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Circulating tumor DNA alterations in patients with metastatic castration‐resistant prostate cancer
Published in Cancer (01-05-2019)“…Background Because cell‐free DNA (cfDNA) analysis facilitates the noninvasive genomic profiling of metastatic castration‐resistant prostate cancer (mCRPC), the…”
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12
Imatinib mesylate therapy for polycythemia vera: final result of a phase II study initiated in 2001
Published in International journal of hematology (01-07-2009)“…Polycythemia vera (PV) is a chronic myeloproliferative neoplasm (MPN) characterized by excessive production of red blood cells. Patients with PV are at a risk…”
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Identification of Somatic Gene Signatures in Circulating Cell‐Free DNA Associated with Disease Progression in Metastatic Prostate Cancer by a Novel Machine Learning Platform
Published in The oncologist (Dayton, Ohio) (01-09-2021)“…Purpose Progression from metastatic castration‐sensitive prostate cancer (mCSPC) to a castration‐resistant (mCRPC) state heralds the lethal phenotype of…”
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Germline Variant in HSD3B1 (1245 A > C) and Response to Abiraterone Acetate Plus Prednisone in Men With New-Onset Metastatic Castration-Resistant Prostate Cancer
Published in Clinical genitourinary cancer (01-08-2018)“…The HSD3B1 (1245C) variant is predictive of response to ADT in castration sensitive prostate cancer (CSPC) and to ketoconazole in castration resistant prostate…”
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15
Germline Variant in SLCO2B1 and Response to Abiraterone Acetate Plus Prednisone (AA) in New-onset Metastatic Castration-resistant Prostate Cancer (mCRPC)
Published in Molecular cancer therapeutics (01-03-2019)“…There are many treatment options available for men with metastatic castration-resistant prostate cancer (mCRPC). Yet, biomarkers predictive of differential…”
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Survival of Patients with Metastatic Prostate Cancer After Disease Progression on an Androgen Receptor Axis–Targeted Therapy Given in the Metastatic Castration-Sensitive Versus Metastatic Castration-Resistant Prostate Cancer Setting
Published in European urology focus (01-01-2023)“…In patients with metastatic prostate cancer, overall survival after progression on an androgen receptor axis–targeted therapy (ARAT) is <2 yr, independent of…”
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Reversible binding of nitric oxide by a salivary heme protein from a bloodsucking insect
Published in Science (American Association for the Advancement of Science) (23-04-1993)“…The bloodsucking bug Rhodnius prolixus has a salivary vasodilator, previously characterized as a nitrovasodilator, with salivary smooth muscle-relaxing and…”
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The JAK kinase inhibitor CP‐690,550 supresses the growth of human polycythemia vera cells carrying the JAK2V617F mutation
Published in Cancer science (01-06-2008)“…The somatic activating janus kinase 2 mutation (JAK2)V617F is detectable in most patients with polycythemia vera (PV). Here we report that CP‐690,550 exerts…”
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19
Siblings with severe pyruvate kinase deficiency and a complex genotype
Published in American journal of medical genetics. Part A (01-09-2016)“…Siblings presented as neonates with severe jaundice and transfusion‐dependent hemolytic anemia. Next‐generation sequencing revealed both to have three…”
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Increased frequency of co-existing JAK2 exon-12 or MPL exon-10 mutations in patients with low JAK2(V617F) allelic burden
Published in Leukemia & lymphoma (2016)“…The frequency of co-existing JAK2(V617F)/MPL and JAK2(V617F)/JAK2 exon-12 mutations has not been previously investigated in MPNs. Poor survival was reported in…”
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