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Published in Biochimica et biophysica acta (01.07.2012)
Published in Biochimica et biophysica acta (01.07.2012)
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Genomic alterations at the basis of treatment resistance in metastatic breast cancer: clinical applications
Toss, Angela, Piacentini, Federico, Cortesi, Laura, Artuso, Lucia, Bernardis, Isabella, Parenti, Sandra, Tenedini, Elena, Ficarra, Guido, Maiorana, Antonino, Iannone, Anna, Omarini, Claudia, Moscetti, Luca, Cristofanilli, Massimo, Federico, Massimo, Tagliafico, Enrico
Published in Oncotarget (03.08.2018)
Published in Oncotarget (03.08.2018)
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iVar, an Interpretation-Oriented Tool to Manage the Update and Revision of Variant Annotation and Classification
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Published in Genes (08.03.2021)
Published in Genes (08.03.2021)
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Impact of mutational status on outcomes in myelofibrosis patients treated with ruxolitinib in the COMFORT-II study
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Published in Blood (03.04.2014)
Published in Blood (03.04.2014)
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Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing
Camparini, Monica, Rinaldi, Chiara, Ciardella, Antonio, Balducci, Nicole, Tranchina, Antonia, Cavallini, Gian Maria, Pietrangelo, Antonello, Marigo, Valeria, Tagliafico, Enrico, Manfredini, Rossella, Simone, Maria Luisa, Artusi, Valentina, Percesepe, Antonio, Artuso, Lucia, Tenedini, Elena, Chiesi, Laura, Bernardis, Isabella, Graziano, Claudio
Published in BioMed research international (01.01.2016)
Published in BioMed research international (01.01.2016)
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Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B
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Published in Clinica chimica acta (15.01.2016)
Published in Clinica chimica acta (15.01.2016)
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Characterization of New ATM Deletion Associated with Hereditary Breast Cancer
Parenti, Sandra, Rabacchi, Claudio, Marino, Marco, Tenedini, Elena, Artuso, Lucia, Castellano, Sara, Carretta, Chiara, Mallia, Selene, Cortesi, Laura, Toss, Angela, Barbieri, Elena, Manfredini, Rossella, Luppi, Mario, Trenti, Tommaso, Tagliafico, Enrico
Published in Genes (21.01.2021)
Published in Genes (21.01.2021)
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Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies
Toss, Angela, Venturelli, Marta, Molinaro, Eleonora, Pipitone, Stefania, Barbieri, Elena, Marchi, Isabella, Tenedini, Elena, Artuso, Lucia, Castellano, Sara, Marino, Marco, Tagliafico, Enrico, Razzaboni, Elisabetta, De Matteis, Elisabetta, Cascinu, Stefano, Cortesi, Laura
Published in Cancers (07.02.2019)
Published in Cancers (07.02.2019)
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Automated capture-based NGS workflow: one thousand patients experience in a clinical routine framework
Tenedini, Elena, Celestini, Fabio, Iapicca, Pierluigi, Marino, Marco, Castellano, Sara, Artuso, Lucia, Biagiarelli, Fiammetta, Cortesi, Laura, Toss, Angela, Barbieri, Elena, Roncucci, Luca, Pedroni, Monica, Manfredini, Rossella, Luppi, Mario, Trenti, Tommaso, Tagliafico, Enrico
Published in Diagnosis (Berlin, Germany) (16.06.2021)
Published in Diagnosis (Berlin, Germany) (16.06.2021)
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Deep sequencing unearths Nuclear mitochondrial Sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants
PETRUZZELLA, Vittoria, CARROZZO, Rosalba, GUERRIERO, Silvana, GASPARRE, Giuseppe, ATTIMONELLI, Marcella, CALABRESE, Claudia, DELL'AGLIO, Rosa, TRENTADUE, Raffaella, PIREDDA, Roberta, ARTUSO, Lucia, RIZZA, Teresa, BIANCHI, Marzia, PORCELLI, Anna Maria
Published in Human molecular genetics (01.09.2012)
Published in Human molecular genetics (01.09.2012)
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Mitochondrial genome aberrations in skeletal muscle of patients with motor neuron disease
Artuso, Lucia, Zoccolella, Stefano, Favia, Paola, Amati, Angela, Capozzo, Rosa, Logroscino, Giancarlo, Serlenga, Luigi, Simone, Isabella, Gasparre, Giuseppe, Petruzzella, Vittoria
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.05.2013)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.05.2013)
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Impact Of Prognostically Detrimental Mutations (ASXL1, EZH2, SRSF2, IDH1/2) On Outcomes In Patients With Myelofibrosis Treated With Ruxolitinib In COMFORT-II
Guglielmelli, Paola, Biamonte, Flavia, Pieri, Lisa, Rotunno, Giada, Paoli, Chiara, Fjerza, Rajmonda, Tagliafico, Enrico, Manfredini, Rossella, Artusi, Valentina, Tenedini, Elena, Artuso, Lucia, Bernardis, Isabella, Stalbovskaya, Viktoriya, Squires, Matthew, Harrison, Claire N, Vannucchi, Alessandro M
Published in Blood (15.11.2013)
Published in Blood (15.11.2013)
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Targeted Cancer Exome Sequencing Discovers Novel Recurrent Mutations In MPN
Tenedini, Elena, Bernardis, Isabella, Artusi, Valentina, Artuso, Lucia, Roncaglia, Enrica, Guglielmelli, Paola, Pieri, Lisa, Bogani, Costanza, Biamonte, Flavia, Bianchi, Elisa, Pancrazzi, Alessandro, Mannarelli, Carmela, Fanelli, Tiziana, Rotunno, Giada, Tagliazucchi, Guidantonio Malagoli, Ferrari, Sergio, Manfredini, Rossella, Vannucchi, Alessandro M, Tagliafico, Enrico
Published in Blood (15.11.2013)
Published in Blood (15.11.2013)
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A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H
BISCEGLIA, Luigi, ZOCCOLELLA, Stefano, SERLENGA, Luigi, ZELANTE, Leopoldo, BERTINI, Enrico, PETRUZZELLA, Vittoria, TORRACO, Alessandra, PIEMONTESE, Maria Rosaria, DELL'AGLIO, Rosa, AMATI, Angela, DE BONIS, Patrizia, ARTUSO, Lucia, COPETTI, Massimiliano, SANTORELLI, Filippo Maria
Published in European journal of human genetics : EJHG (01.06.2010)
Published in European journal of human genetics : EJHG (01.06.2010)
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Late-onset Leber hereditary optic neuropathy mimicking Susac’s syndrome
Zoccolella, Stefano, Petruzzella, Vittoria, Prascina, Francesco, Artuso, Lucia, Pacillo, Francesca, Dell’Aglio, Rosa, Avolio, Carlo, Delle Noci, Nicola, Attimonelli, Marcella, Specchio, Luigi Maria
Published in Journal of neurology (01.12.2010)
Published in Journal of neurology (01.12.2010)
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Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia
Negro, Roberto, Zoccolella, Stefano, Dell’Aglio, Rosa, Amati, Angela, Artuso, Lucia, Bisceglia, Luigi, Lavolpe, Vito, Papa, Sergio, Serlenga, Luigi, Petruzzella, Vittoria
Published in Neuromuscular disorders : NMD (01.06.2009)
Published in Neuromuscular disorders : NMD (01.06.2009)
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Characterization of New ATM Deletion Associated with Hereditary Breast Cancer
Parenti, Sandra, Rabacchi, Claudio, Marino, Marco, Tenedini, Elena, Artuso, Lucia, Castellano, Sara, Carretta, Chiara, Mallia, Selene, Cortesi, Laura, Toss, Angela, Barbieri, Elena, Manfredini, Rossella, Luppi, Mario, Trenti, Tommaso, Tagliafico, Enrico
Published in Genes (21.01.2021)
Published in Genes (21.01.2021)
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