يعرض 1 - 10 نتائج من 143 نتيجة بحث عن '"Guerneri, Silvana"', وقت الاستعلام: 1.67s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO Study)

    المؤلفون: Grati, Francesca Romana, Bestetti, Ilaria, De Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe, Casalone, Rosario, Righi, Rossana, Raso, Barbara, Civolani, Alessandro, Muzi, Maria Cristina, di Natale, Manuela, Varriale, Luigia, Gasperini, Daniela, Nuzzi, Maria Cristina, Cellamare, Angelo, Casieri, Paola, Busuito, Rosa, Ceccarini, Caterina, Cesarano, Carla, Privitera, Orsola, Melani, Daniela, Menozzi, Cristina, Falcinelli, Cristina, Calabrese, Olga, Battaglia, Paola, Tanzariello, Antonella, Stampalija, Tamara, Ardisia, Carmela, Gasparini, Paolo, Benn, Peter, Novelli, Antonio

    المساهمون: Grati, Francesca Romana, Bestetti, Ilaria, De Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe, Casalone, Rosario, Righi, Rossana, Raso, Barbara, Civolani, Alessandro, Muzi, Maria Cristina, di Natale, Manuela, Varriale, Luigia, Gasperini, Daniela, Nuzzi, Maria Cristina, Cellamare, Angelo, Casieri, Paola, Busuito, Rosa, Ceccarini, Caterina, Cesarano, Carla, Privitera, Orsola, Melani, Daniela, Menozzi, Cristina, Falcinelli, Cristina, Calabrese, Olga, Battaglia, Paola, Tanzariello, Antonella, Stampalija, Tamara, Ardisia, Carmela, Gasparini, Paolo, Benn, Peter, Novelli, Antonio

    مصطلحات موضوعية: cfDNAtesting

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36403097; info:eu-repo/semantics/altIdentifier/wos/WOS:000893020800001; volume:42; issue:13; firstpage:1575; lastpage:1586; numberofpages:12; journal:PRENATAL DIAGNOSIS; https://hdl.handle.net/11368/3035240Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85143216435

    الإتاحة: https://doi.org/10.1002/pd.6271Test
    https://hdl.handle.net/11368/3035240Test

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  2. 2
    دورية أكاديمية
    Correction to: Incidental finding of APC deletion in a child: double trouble or double chance? – a case report

    المؤلفون: Rosina, Erica, Rinaldi, Berardo, Silipigni, Rosamaria, Bergamaschi, Luca, Gattuso, Giovanna, Signoroni, Stefano, Guerneri, Silvana, Carnevali, Alessandra, Marchisio, Paola Giovanna, Milani, Donatella

    المصدر: Italian Journal of Pediatrics ; volume 47, issue 1 ; ISSN 1824-7288

    الإتاحة: https://doi.org/10.1186/s13052-021-01135-zTest

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  3. 3
    دورية أكاديمية
    Incidental finding of APC deletion in a child: double trouble or double chance? – a case report

    المؤلفون: Rosina, Erica, Rinaldi, Berardo, Silipigni, Rosamaria, Bergamaschi, Luca, Gattuso, Giovanna, Signoroni, Stefano, Guerneri, Silvana, Carnevali, Alessandra, Marchisio, Paola Giovanna, Milani, Donatella

    المصدر: Italian Journal of Pediatrics ; volume 47, issue 1 ; ISSN 1824-7288

    الإتاحة: https://doi.org/10.1186/s13052-021-00969-xTest

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  4. 4
    دورية أكاديمية
    Small supernumerary marker chromosomes: A legacy of trisomy rescue?

    المؤلفون: Kurtas, Nehir Edibe, Xumerle, Luciano, Leonardelli, Lorena, Delledonne, Massimo, Brusco, Alfredo, Chrzanowska, Krystyna, Schinzel, Albert, Larizza, Daniela, Guerneri, Silvana, Natacci, Federica, Bonaglia, Maria Clara, Reho, Paolo, Manolakos, Emmanouil, Mattina, Teresa, Soli, Fiorenza, Provenzano, Aldesia, Al-Rikabi, Ahmed H, Errichiello, Edoardo, Nazaryan-Petersen, Lusine, Giglio, Sabrina, Tommerup, Niels, Liehr, Thomas, Zuffardi, Orsetta

    المساهمون: Kurtas, Nehir Edibe, Xumerle, Luciano, Leonardelli, Lorena, Delledonne, Massimo, Brusco, Alfredo, Chrzanowska, Krystyna, Schinzel, Albert, Larizza, Daniela, Guerneri, Silvana, Natacci, Federica, Bonaglia, Maria Clara, Reho, Paolo, Manolakos, Emmanouil, Mattina, Teresa, Soli, Fiorenza, Provenzano, Aldesia, Al-Rikabi, Ahmed H, Errichiello, Edoardo, Nazaryan-Petersen, Lusine, Giglio, Sabrina, Tommerup, Niel, Liehr, Thoma, Zuffardi, Orsetta

    مصطلحات موضوعية: chromothripsi, evolutionary trade-off, maternal meiotic nondisjunction, small supernumerary marker chromosome (sSMC), whole genome paired-end sequencing (WGS)

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30412329; info:eu-repo/semantics/altIdentifier/wos/WOS:000455769100006; volume:40; issue:2; firstpage:193; lastpage:200; numberofpages:8; journal:HUMAN MUTATION; http://hdl.handle.net/2318/1686686Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85056877249

    الإتاحة: https://doi.org/10.1002/humu.23683Test
    http://hdl.handle.net/2318/1686686Test

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  5. 5
    دورية أكاديمية
    Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study)

    المؤلفون: Grati, Francesca Romana, Bestetti, Ilaria, de Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe

    المصدر: Obstetrical & Gynecological Survey ; volume 78, issue 6, page 318-320 ; ISSN 1533-9866 0029-7828

    الإتاحة: https://doi.org/10.1097/01.ogx.0000943148.38377.8cTest

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  6. 6
    دورية أكاديمية
    Sequence variants identification at the KCNQ1OT1: TSS differentially Methylated region in isolated omphalocele cases

    المؤلفون: Bedeschi, Maria Francesca, M. Calvello, L. Paganini, L. Pezzani, M. Baccarin, L. Fontana, S.M. Sirchia, Guerneri, Silvana, L. Canazza, Leva, Ernesto, L.L. Colombo, Lalatta, Faustina, F. Mosca, S.M. Tabano, M.R. Miozzo

    المساهمون: B. Maria Francesca, M. Calvello, L. Paganini, L. Pezzani, M. Baccarin, L. Fontana, S.M. Sirchia, G. Silvana, L. Canazza, L. Ernesto, L.L. Colombo, L. Faustina, F. Mosca, S.M. Tabano, M.R. Miozzo

    مصطلحات موضوعية: Abdominal wall defect, Beckwith-Wiedemann syndrome, CDKN1C, Genomic imprinting, KCNQ1OT1:TSS-DMR, Omphalocele, Base Sequence, Child, Preschool, Chromosomes, Human, Pair 11, Consanguinity, Cyclin-Dependent Kinase Inhibitor p57, DNA Mutational Analysi, Female, Genetic Predisposition to Disease, Hernia, Umbilical, Infant, Newborn, Male, Mutation, Pedigree, Polymorphism, Single Nucleotide, Potassium Channels, Voltage-Gated, Sequence Deletion, Sequence Homology

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29047350; info:eu-repo/semantics/altIdentifier/wos/WOS:000413221300001; volume:18; issue:1; firstpage:1; lastpage:9; numberofpages:9; journal:BMC MEDICAL GENETICS; http://hdl.handle.net/2434/542749Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85031707766

    الإتاحة: https://doi.org/10.1186/s12881-017-0470-zTest
    http://hdl.handle.net/2434/542749Test

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  7. 7
    دورية أكاديمية
    Mass spectrometry-based assay for the molecular diagnosis of glioma : Concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status

    المؤلفون: C. Pesenti, L. Paganini, L. Fontana, E. Veniani, Runza, Letterio, S. Ferrero, S. Bosari, Menghi, Maura, G. Marfia, Caroli, Manuela, R. Silipigni, Guerneri, Silvana, S. Tabano, M. Miozzo

    المساهمون: C. Pesenti, L. Paganini, L. Fontana, E. Veniani, R. Letterio, S. Ferrero, S. Bosari, M. Maura, G. Marfia, C. Manuela, R. Silipigni, G. Silvana, S. Tabano, M. Miozzo

    مصطلحات موضوعية: 1p/19q LOH, Glioma, IDH, MassARRAY, TERT, Oncology, Settore MED/03 - Genetica Medica, Settore MED/04 - Patologia Generale

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28915660; info:eu-repo/semantics/altIdentifier/wos/WOS:000408135600113; volume:8; issue:34; firstpage:57134; lastpage:57148; numberofpages:15; journal:ONCOTARGET; http://hdl.handle.net/2434/542745Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85029099762

    الإتاحة: https://doi.org/10.18632/oncotarget.19103Test
    http://hdl.handle.net/2434/542745Test

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  8. 8
    دورية أكاديمية
    Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome

    المؤلفون: Rinaldi, Berardo, Cesaretti, Claudia, Boito, Simona, Villa, Roberta, Guerneri, Silvana, Borzani, Irene, Rizzuti, Tommaso, Marchetti, Daniela, Conte, Giorgio, Cinnante, Claudia, Triulzi, Fabio, Persico, Nicola, Iascone, Maria, Natacci, Federica

    المساهمون: B. Rinaldi, C. Cesaretti, S. Boito, R. Villa, S. Guerneri, I. Borzani, T. Rizzuti, D. Marchetti, G. Conte, C. Cinnante, F. Triulzi, N. Persico, M. Iascone, F. Natacci

    مصطلحات موضوعية: Settore MED/37 - Neuroradiologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35584264; info:eu-repo/semantics/altIdentifier/wos/WOS:000800546900001; volume:42; issue:7; firstpage:927; lastpage:933; numberofpages:7; journal:PRENATAL DIAGNOSIS; https://hdl.handle.net/2434/985748Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85130762808

    الإتاحة: https://doi.org/10.1002/pd.6171Test
    https://hdl.handle.net/2434/985748Test

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  9. 9
    دورية أكاديمية
    Insights into 6q21‐q22: Refinement of the critical region for acro‐cardio‐facial syndrome

    المؤلفون: Milani, Donatella, Cagnoli, Giulia Anna, Baccarin, Marco, Alfei, Enrico, Guerneri, Silvana, Esposito, Susanna

    المصدر: Congenital Anomalies ; volume 56, issue 4, page 187-189 ; ISSN 0914-3505 1741-4520

    الإتاحة: https://doi.org/10.1111/cga.12164Test

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  10. 10
    دورية أكاديمية
    MGMT- Methylated Alleles Are Distributed Heterogeneously Within Glioma Samples Irrespective of IDH Status and Chromosome 10q Deletion

    المؤلفون: Fontana, Laura, Tabano, Silvia, Bonaparte, Eleonora, Marfia, Giovanni, Pesenti, Chiara, Falcone, Rossella, Augello, Claudia, Carlessi, Nicole, Silipigni, Rosamaria, Guerneri, Silvana, Campanella, Rolando, Caroli, Manuela, Maria Sirchia, Silvia, Bosari, Silvano, Miozzo, Monica

    المصدر: Journal of Neuropathology & Experimental Neurology ; volume 75, issue 8, page 791-800 ; ISSN 0022-3069 1554-6578

    مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Neurology, General Medicine, Pathology and Forensic Medicine

    الإتاحة: https://doi.org/10.1093/jnen/nlw052Test
    http://academic.oup.com/jnen/article-pdf/75/8/791/10816741/nlw052.pdfTest

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