يعرض 1 - 10 نتائج من 141 نتيجة بحث عن '"Corsolini, Fabio"', وقت الاستعلام: 1.04s تنقيح النتائج
  1. 1
    دورية أكاديمية
    A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation

    المؤلفون: Persico, Ilaria, Fontana, Giorgia, Faleschini, Michela, Zanchetta, Melania Eva, Ammeti, Daniele, Cappelli, Enrico, Corsolini, Fabio, Mosa, Clara, Guarina, Angela, Bogliolo, Massimo, Surrallés, Jordi, Dufour, Carlo, Farruggia, Piero, Savoia, Anna, Bottega, Roberta

    المساهمون: Persico, Ilaria, Fontana, Giorgia, Faleschini, Michela, Zanchetta, Melania Eva, Ammeti, Daniele, Cappelli, Enrico, Corsolini, Fabio, Mosa, Clara, Guarina, Angela, Bogliolo, Massimo, Surrallés, Jordi, Dufour, Carlo, Farruggia, Piero, Savoia, Anna, Bottega, Roberta

    مصطلحات موضوعية: Fanconi anemia, de novo variant, natural gene therapy, somatic mosaicism, splicing mutation

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37547463; info:eu-repo/semantics/altIdentifier/wos/WOS:001041925800001; volume:14; issue:1209138; firstpage:1; lastpage:10; numberofpages:10; journal:FRONTIERS IN GENETICS; https://hdl.handle.net/11562/1101407Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85166576877; https://doi.org/10.3389/fgene.2023.1209138Test

    الإتاحة: https://doi.org/10.3389/fgene.2023.1209138Test
    https://hdl.handle.net/11562/1101407Test

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  2. 2
    دورية أكاديمية
    P756: IMPAIRED MITOCHONDRIAL FUNCTION AND MARROW FAILURE IN PATIENTS CARRYING A MUTATION ON SRSF4 GENE

    المؤلفون: Miano, Maurizio, Bertola, Nadia, Grossi, Alice, Dell’orso, Gianluca, Regis, Stefano, Fioredda, Francesca, Lupia, Michela, Lanciotti, Marina, Palmisani, Elena, Carla Giarratana, Maria, Arcuri, Luca, Corsolini, Fabio, Rusmini, Marta, Uva, Paolo, Vozzi, Diego, Ceccherini, Isabella, Ravera, Silvia, Cappelli, Enrico, Dufour, Carlo

    المصدر: HemaSphere ; volume 7, issue S3, page e48553f7 ; ISSN 2572-9241

    الإتاحة: https://doi.org/10.1097/01.hs9.0000969928.48553.f7Test

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  3. 3
    دورية أكاديمية
    Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene

    المؤلفون: Miano, Maurizio, Bertola, Nadia, Grossi, Alice, Dell’Orso, Gianluca, Regis, Stefano, Rusmini, Marta, Uva, Paolo, Vozzi, Diego, Fioredda, Francesca, Palmisani, Elena, Lupia, Michela, Lanciotti, Marina, Grilli, Federica, Corsolini, Fabio, Arcuri, Luca, Giarratana, Maria Carla, Ceccherini, Isabella, Dufour, Carlo, Cappelli, Enrico, Ravera, Silvia

    المساهمون: Miano, Maurizio, Bertola, Nadia, Grossi, Alice, Dell’Orso, Gianluca, Regis, Stefano, Rusmini, Marta, Uva, Paolo, Vozzi, Diego, Fioredda, Francesca, Palmisani, Elena, Lupia, Michela, Lanciotti, Marina, Grilli, Federica, Corsolini, Fabio, Arcuri, Luca, Giarratana, Maria Carla, Ceccherini, Isabella, Dufour, Carlo, Cappelli, Enrico, Ravera, Silvia

    مصطلحات موضوعية: CLUH, DRP1, OPA1, SRSF4, mTOR, marrow failure, mitochondria

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38396760; volume:25:2083; firstpage:1; lastpage:13; numberofpages:13; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11567/1167055Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85185938555

    الإتاحة: https://doi.org/10.3390/ijms25042083Test
    https://hdl.handle.net/11567/1167055Test

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  4. 4
    دورية أكاديمية
    Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis

    المؤلفون: Miano, Maurizio, Guardo, Daniela, Grossi, Alice, Palmisani, Elena, Fioredda, Francesca, Terranova, Paola, Cappelli, Enrico, Lupia, Michela, Traverso, Monica, Dell’Orso, Gianluca, Corsolini, Fabio, Beccaria, Andrea, Lanciotti, Marina, Ceccherini, Isabella, Dufour, Carlo

    المصدر: Frontiers in Immunology ; volume 13 ; ISSN 1664-3224

    مصطلحات موضوعية: Immunology, Immunology and Allergy

    الإتاحة: https://doi.org/10.3389/fimmu.2022.869033Test

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  5. 5
    دورية أكاديمية
    Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for FANCA-A Gene: The Central Role of DRP1

    المؤلفون: Bertola, Nadia, Bruno, Silvia, Capanni, Cristina, Columbaro, Marta, Mazzarello, Andrea Nicola, Corsolini, Fabio, Regis, Stefano, Degan, Paolo, Cappelli, Enrico, Ravera, Silvia

    المساهمون: Bertola, Nadia, Bruno, Silvia, Capanni, Cristina, Columbaro, Marta, Mazzarello, Andrea Nicola, Corsolini, Fabio, Regis, Stefano, Degan, Paolo, Cappelli, Enrico, Ravera, Silvia

    مصطلحات موضوعية: Fanconi anemia, OxPho, aerobic metabolism, fission, fusion, mitochondrial dynamics

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37047537; info:eu-repo/semantics/altIdentifier/wos/WOS:000969637200001; volume:24:6557; firstpage:1; lastpage:16; numberofpages:16; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11567/1116775Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152347988

    الإتاحة: https://doi.org/10.3390/ijms24076557Test
    https://hdl.handle.net/11567/1116775Test

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  6. 6
    دورية أكاديمية
    Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia

    المؤلفون: Bertola, Nadia, Regis, Stefano, Bruno, Silvia, Mazzarello, Andrea Nicola, Serra, Martina, Lupia, Michela, Sabatini, Federica, Corsolini, Fabio, Ravera, Silvia, Cappelli, Enrico

    المساهمون: Bertola, Nadia, Regis, Stefano, Bruno, Silvia, Mazzarello, Andrea Nicola, Serra, Martina, Lupia, Michela, Sabatini, Federica, Corsolini, Fabio, Ravera, Silvia, Cappelli, Enrico

    مصطلحات موضوعية: aldehyde dehydrogenase, antioxidant defense, catalase, energy metabolism, glutathione reductase, histone deacetylase inhibitor, lipid peroxidation, oxidative phosphorylation

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37237966; info:eu-repo/semantics/altIdentifier/wos/WOS:001012655900001; volume:12:1100; firstpage:1; lastpage:17; numberofpages:17; journal:ANTIOXIDANTS; https://hdl.handle.net/11567/1128015Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85160668416

    الإتاحة: https://doi.org/10.3390/antiox12051100Test
    https://hdl.handle.net/11567/1128015Test

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  7. 7
    دورية أكاديمية
    Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

    المؤلفون: Bottega, Roberta, Nicchia, Elena, Cappelli, Enrico, Ravera, Silvia, De Rocco, Daniela, Faleschini, Michela, Corsolini, Fabio, Pierri, Filomena, Calvillo, Michaela, Russo, Giovanna, Casazza, Gabriella, Ramenghi, Ugo, Farruggia, Piero, Dufour, Carlo, Savoia, Anna

    المساهمون: Bottega, Roberta, Nicchia, Elena, Cappelli, Enrico, Ravera, Silvia, De Rocco, Daniela, Faleschini, Michela, Corsolini, Fabio, Pierri, Filomena, Calvillo, Michaela, Russo, Giovanna, Casazza, Gabriella, Ramenghi, Ugo, Farruggia, Piero, Dufour, Carlo, Savoia, Anna

    مصطلحات موضوعية: Hematology, Fanconi anemia, mitochondria

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29269525; info:eu-repo/semantics/altIdentifier/wos/WOS:000426478500020; volume:103; issue:3; firstpage:417; lastpage:426; numberofpages:10; journal:HAEMATOLOGICA; http://hdl.handle.net/11368/2921716Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85042793178; https://www.jstage.jst.go.jp/article/jpts/30/3/30_jpts-2017-377/_pdfTest

    الإتاحة: https://doi.org/10.3324/haematol.2017.176131Test
    http://hdl.handle.net/11368/2921716Test
    https://www.jstage.jst.go.jp/article/jpts/30/3/30_jpts-2017-377/_pdfTest

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  8. 8
    دورية أكاديمية
    FAS‐mediated apoptosis impairment in patients with ALPS/ALPS‐like phenotype carrying variants on CASP10 gene

    المؤلفون: Miano, Maurizio, Cappelli, Enrico, Pezzulla, Agnese, Venè, Roberta, Grossi, Alice, Terranova, Paola, Palmisani, Elena, Maggiore, Rosario, Guardo, Daniela, Lanza, Tiziana, Calvillo, Michaela, Micalizzi, Concetta, Pierri, Filomena, Vernarecci, Chiara, Beccaria, Andrea, Corsolini, Fabio, Lanciotti, Marina, Russo, Giovanna, Ceccherini, Isabella, Dufour, Carlo, Fioredda, Francesca

    المصدر: British Journal of Haematology ; volume 187, issue 4, page 502-508 ; ISSN 0007-1048 1365-2141

    الإتاحة: https://doi.org/10.1111/bjh.16098Test

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  9. 9
    دورية أكاديمية
    Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

    المؤلفون: Bottega, Roberta, Napolitano, Luisa M. R., Carbone, Anna, Cappelli, Enrico, Corsolini, Fabio, Onesti, Silvia, Savoia, Anna, Gasparini, Paolo, Faletra, Flavio

    المصدر: Molecular Genetics & Genomic Medicine ; volume 7, issue 5 ; ISSN 2324-9269 2324-9269

    الإتاحة: https://doi.org/10.1002/mgg3.639Test

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  10. 10
    دورية أكاديمية
    GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

    المؤلفون: Bottega, Roberta, Marzollo, Antonio, Marinoni, Maddalena, Athanasakis, Emmanouil, Persico, Ilaria, Bianco, Anna Monica, Faleschini, Michela, Valencic, Erica, Simoncini, Daniela, Rossini, Linda, Corsolini, Fabio, La Bianca, Martina, Robustelli, Giuseppe, Gabelli, Maria, Agosti, Massimo, Biffi, Alessandra, Grotto, Paolo, Bozzi, Valeria, Noris, Patrizia, Burlina, Alberto B, D'Adamo, Adamo Pio, Tommasini, Alberto, Faletra, Flavio, Pastore, Annalisa, Savoia, Anna

    المساهمون: Bottega, Roberta, Marzollo, Antonio, Marinoni, Maddalena, Athanasakis, Emmanouil, Persico, Ilaria, Bianco, Anna Monica, Faleschini, Michela, Valencic, Erica, Simoncini, Daniela, Rossini, Linda, Corsolini, Fabio, La Bianca, Martina, Robustelli, Giuseppe, Gabelli, Maria, Agosti, Massimo, Biffi, Alessandra, Grotto, Paolo, Bozzi, Valeria, Noris, Patrizia, Burlina, Alberto B, D'Adamo, Adamo Pio, Tommasini, Alberto, Faletra, Flavio, Pastore, Annalisa, Savoia, Anna

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34788986; info:eu-repo/semantics/altIdentifier/wos/WOS:000964438900001; volume:107; issue:3; firstpage:750; lastpage:754; numberofpages:5; journal:HAEMATOLOGICA; https://hdl.handle.net/11577/3473039Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122445699

    الإتاحة: https://doi.org/10.3324/haematol.2021.279689Test
    https://hdl.handle.net/11577/3473039Test

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