يعرض 1 - 10 نتائج من 85 نتيجة بحث عن '"Federica, Natacci"', وقت الاستعلام: 0.82s تنقيح النتائج
  1. 1
    دورية أكاديمية
    The Contribution of Oxidative Stress to NF1-Altered Tumors

    المؤلفون: Elisabetta Kuhn, Federica Natacci, Massimo Corbo, Luigi Pisani, Stefano Ferrero, Gaetano Bulfamante, Donatella Gambini

    المصدر: Antioxidants, Vol 12, Iss 8, p 1557 (2023)

    مصطلحات موضوعية: neurofibromatosis, NF1, pathogenesis, neurofibromin, oxidative stress, ROS, Therapeutics. Pharmacology, RM1-950

    وصف الملف: electronic resource

    العلاقة: https://www.mdpi.com/2076-3921/12/8/1557Test; https://doaj.org/toc/2076-3921Test

    الوصول الحر: https://doaj.org/article/8c04810aa30a4e849ba66ee866082b5bTest

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  2. 2
    دورية أكاديمية
    P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity

    المؤلفون: Angela Peron, Rosa Maria Alfano, Barry Moore, Mark Nellist, Brent Pedersen, Francesca La Briola, Luigina Spaccini, Federica Natacci, Maria Paola Recalcati, Valentina Chiesa, Rosangela Arancio, Ugo Cavallari, Chiara Vannicola, Graziella Cefalo, Silvia Maitz, Stefania Bigoni, Lorenzo Gualandri, Cristina Gervasini, Pierangelo Veggiotti, Wilfred van Ijcken, Aglaia Vignoli, Gaetano Pietro Bulfamante, John Carey, Maria Paola Canevini

    المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100295- (2023)

    مصطلحات موضوعية: Genetics, QH426-470, Medicine

    وصف الملف: electronic resource

    العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423002959Test; https://doaj.org/toc/2949-7744Test

    الوصول الحر: https://doaj.org/article/81e26582d9264f2c8535cc565e1cb3dfTest

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  3. 3
    دورية أكاديمية
    A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort

    المؤلفون: Rosina Paterra, Paola Bettinaglio, Arianna Borghi, Eleonora Mangano, Viviana Tritto, Claudia Cesaretti, Carla Schettino, Roberta Bordoni, Claudia Santoro, Sabrina Avignone, Marco Moscatelli, Mariarosa Anna Beatrice Melone, Veronica Saletti, Giulio Piluso, Federica Natacci, Paola Riva, Marica Eoli

    المساهمون: R. Paterra, P. Bettinaglio, A. Borghi, E. Mangano, V. Tritto, C. Cesaretti, C. Schettino, R. Bordoni, C. Santoro, S. Avignone, M.E.M. Moscatelli, M. Anna Beatrice Melone, V. Saletti, G. Piluso, F. Natacci, P.V. Riva, M. Eoli

    مصطلحات موضوعية: NF1 pathogenic variant, neurofibroma, neurofibromatosis type 1, spinal neurofibromatosi, spinal tumor, Settore BIO/13 - Biologia Applicata

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36612057; info:eu-repo/semantics/altIdentifier/wos/WOS:000910189000001; volume:15; issue:1; firstpage:1; lastpage:23; numberofpages:23; journal:CANCERS; https://hdl.handle.net/2434/951089Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85146015223

    الإتاحة: https://doi.org/10.3390/cancers15010059Test
    https://hdl.handle.net/2434/951089Test

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  4. 4
    دورية أكاديمية
    A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort

    المؤلفون: Rosina Paterra, Paola Bettinaglio, Arianna Borghi, Eleonora Mangano, Viviana Tritto, Claudia Cesaretti, Carla Schettino, Roberta Bordoni, Claudia Santoro, Sabrina Avignone, Marco Moscatelli, Mariarosa Anna Beatrice Melone, Veronica Saletti, Giulio Piluso, Federica Natacci, Paola Riva, Marica Eoli

    المصدر: Cancers, Vol 15, Iss 1, p 59 (2022)

    مصطلحات موضوعية: neurofibromatosis type 1, spinal neurofibromatosis, neurofibroma, spinal tumors, NF1 pathogenic variant, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

    وصف الملف: electronic resource

    العلاقة: https://www.mdpi.com/2072-6694/15/1/59Test; https://doaj.org/toc/2072-6694Test

    الوصول الحر: https://doaj.org/article/638a9dd91c1544bc99b4aa3afa9cc78fTest

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  5. 5
    دورية أكاديمية
    Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

    المؤلفون: Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Marie Falkenberg Smeland, Swati Naik, Oliver Murch, Maria Teresa Bonati, Alice Spano, Elisa Cattaneo, Milena Mariani, Fabio Gotta, Francesca Crosti, Pietro Cavalli, Chiara Pantaleoni, Federica Natacci, Maria Francesca Bedeschi, Donatella Milani, Silvia Maitz, Angelo Selicorni, Luigina Spaccini, Angela Peron, Silvia Russo, Lidia Larizza, Karen Low, Palma Finelli

    المصدر: International Journal of Molecular Sciences; Volume 23; Issue 11; Pages: 5912

    مصطلحات موضوعية: KBG syndrome, ANKRD11 variations, diagnostic flow chart, ANKRD11 gene expression analysis

    جغرافية الموضوع: agris

    وصف الملف: application/pdf

    العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms23115912Test

    الإتاحة: https://doi.org/10.3390/ijms23115912Test

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  6. 6
    New insights into the molecular basis of spinal neurofibromatosis type 1

    المؤلفون: Paola Bettinaglio, Eleonora Mangano, Viviana Tritto, Roberta Bordoni, Rosina Paterra, Arianna Borghi, Marinella Volontè, Cristina Battaglia, Veronica Saletti, Claudia Cesaretti, Federica Natacci, Mariarosa A. B. Melone, Marica Eoli, Paola Riva

    المصدر: European Journal of Human Genetics.

    مصطلحات موضوعية: Genetics, Genetics (clinical)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::99338cec8cb6cc1b092682b8c77e9e1aTest
    https://doi.org/10.1038/s41431-023-01377-xTest


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  7. 7
    دورية أكاديمية
    Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients

    المؤلفون: Donatella Bianchessi, Maria Cristina Ibba, Veronica Saletti, Stefania Blasa, Tiziana Langella, Rosina Paterra, Giulia Anna Cagnoli, Giulia Melloni, Giulietta Scuvera, Federica Natacci, Claudia Cesaretti, Gaetano Finocchiaro, Marica Eoli

    المصدر: Genes; Volume 11; Issue 6; Pages: 671

    مصطلحات موضوعية: neurofibromatosis type 1, targeted next generation sequencing (NGS), NF1, SPRED1, LZTR1, NF2 genes pathogenic variants, schwannomatosis

    جغرافية الموضوع: agris

    وصف الملف: application/pdf

    العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11060671Test

    الإتاحة: https://doi.org/10.3390/genes11060671Test

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  8. 8
    دورية أكاديمية
    Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report

    المؤلفون: Giacomo Biasucci, Nicola Morelli, Federica Natacci, Massimo Mastrangelo

    المصدر: Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-5 (2018)

    مصطلحات موضوعية: Perinatal asphyxia, Neonatal Glutaric aciduria type 1, Neonatal epileptic seizures, Post-natal neurological damage, Expanded newborn screening, Pediatrics, RJ1-570

    وصف الملف: electronic resource

    العلاقة: http://link.springer.com/article/10.1186/s13052-018-0450-8Test; https://doaj.org/toc/1824-7288Test

    الوصول الحر: https://doaj.org/article/e98c1f6829224bc9a5da4a7442a44ca5Test

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  9. 9
    Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW ‐related prenatal findings

    المؤلفون: Luisa Ronzoni, Simona Boito, Camilla Meossi, Claudia Cesaretti, Berardo Rinaldi, Emanuele Agolini, Tommaso Rizzuti, Laura Pezzoli, Rosamaria Silipigni, Antonio Novelli, Maria Iascone, Nicola Persico, Federica Natacci

    المصدر: Prenatal Diagnosis. 42:1493-1502

    مصطلحات موضوعية: Hernia, Diaphragmatic, Fetus, Pregnancy, Prenatal Diagnosis, Limb Deformities, Congenital, Humans, Facies, Obstetrics and Gynecology, Female, Abnormalities, Multiple, Ultrasonography, Prenatal, Genetics (clinical)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f69c19b553b58d2d682e32edd1094c11Test
    https://doi.org/10.1002/pd.6204Test


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  10. 10
    Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome

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

    المصدر: Prenatal Diagnosis. 42:927-933

    مصطلحات موضوعية: Fetus, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Humans, Obstetrics and Gynecology, Basal Cell Nevus Syndrome, Exome, Female, Ultrasonography, Prenatal, Genetics (clinical)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8eb9620b81d073f7f055e360b24548eTest
    https://doi.org/10.1002/pd.6171Test


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