检索结果 - Agolini, Emanuele

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  1. 1
    CUGC for lysinuric protein intolerance (LPI)

    CUGC for lysinuric protein intolerance (LPI) 由 Martinelli, Diego, Schiff, Manuel, Semeraro, Michela, Agolini, Emanuele, Novelli, Antonio, Dionisi-Vici, Carlo

    出版 2020
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  2. 2
    Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease

    Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease 由 Paglietti, Maria Giovanna, Cherchi, Claudio, Porcaro, Federica, Agolini, Emanuele, Schiavino, Alessandra, Petreschi, Francesca, Novelli, Antonio, Cutrera, Renato

    出版 2019
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  3. 3
    The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review

    The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review 由 Cocciadiferro, Dario, Agolini, Emanuele, Digilio, Maria Cristina, Sinibaldi, Lorenzo, Castori, Marco, Silvestri, Evelina, Dotta, Andrea, Dallapiccola, Bruno, Novelli, Antonio

    出版 2020
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  4. 4
    CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

    CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome 由 Martinelli, Diego, Fiermonte, Giuseppe, Häberle, Johannes, Boenzi, Sara, Goffredo, Bianca Maria, Travaglini, Lorena, Agolini, Emanuele, Porcelli, Vito, Dionisi-Vici, Carlo

    出版 2020
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  5. 5
    Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

    Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome 由 Micale, Lucia, Guarnieri, Vito, Augello, Bartolomeo, Palumbo, Orazio, Agolini, Emanuele, Sofia, Valentina Maria, Mazza, Tommaso, Novelli, Antonio, Carella, Massimo, Castori, Marco

    出版 2019
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  6. 6
    Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature

    Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature 由 Piazzolla, Mariano, Castellaneta, Nicola, Novelli, Antonio, Agolini, Emanuele, Cocciadiferro, Dario, Resta, Leonardo, Duda, Loren, Barone, Michele, Ierardi, Enzo, Di Leo, Alfredo

    出版 2020
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  7. 7
    De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review

    De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review 由 Siano, Maria Anna, De Maggio, Ilaria, Petillo, Roberta, Cocciadiferro, Dario, Agolini, Emanuele, Majolo, Massimo, Novelli, Antonio, Della Monica, Matteo, Piscopo, Carmelo

    出版 2022
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  8. 8
    14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

    14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies 由 Ponzi, Emanuela, Gentile, Mattia, Agolini, Emanuele, Matera, Emilia, Palumbi, Roberto, Buonadonna, Antonia Lucia, Peschechera, Antonia, Gabellone, Alessandra, Antonucci, Maria Fatima, Margari, Lucia

    出版 2020
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  9. 9
    Liquid Biopsy with Detection of NRAS(Q61K) Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma

    Liquid Biopsy with Detection of NRAS(Q61K) Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma 由 Mastronuzzi, Angela, Fabozzi, Francesco, Rinelli, Martina, De Vito, Rita, Agolini, Emanuele, Colafati, Giovanna Stefania, Cacchione, Antonella, Carai, Andrea, De Ioris, Maria Antonietta

    出版 2022
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  10. 10
    Proliferative vasculopathy and hydranencephaly–hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism

    Proliferative vasculopathy and hydranencephaly–hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism 由 Radio, Francesca Clementina, Di Meglio, Lavinia, Agolini, Emanuele, Bellacchio, Emanuele, Rinelli, Martina, Toscano, Paolo, Boldrini, Renata, Novelli, Antonio, Di Meglio, Aniello, Dallapiccola, Bruno

    出版 2018
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  11. 11
    Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

    Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review 由 Pelizzo, Gloria, Collura, Mirella, Puglisi, Aurora, Pappalardo, Maria Pia, Agolini, Emanuele, Novelli, Antonio, Piccione, Maria, Cacace, Caterina, Bussani, Rossana, Corsello, Giovanni, Calcaterra, Valeria

    出版 2019
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  12. 12
    A case report on filamin A gene mutation and progressive pulmonary disease in an infant: A lung tissued derived mesenchymal stem cell study

    A case report on filamin A gene mutation and progressive pulmonary disease in an infant: A lung tissued derived mesenchymal stem cell study 由 Calcaterra, Valeria, Avanzini, Maria Antonietta, Mantelli, Melissa, Agolini, Emanuele, Croce, Stefania, De Silvestri, Annalisa, Re, Giuseppe, Collura, Mirella, Maltese, Alice, Novelli, Antonio, Pelizzo, Gloria

    出版 2018
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  13. 13
    BRAF V600E Inhibitor (Vemurafenib) for BRAF V600E Mutated Low Grade Gliomas

    BRAF V600E Inhibitor (Vemurafenib) for BRAF V600E Mutated Low Grade Gliomas 由 Del Bufalo, Francesca, Ceglie, Giulia, Cacchione, Antonella, Alessi, Iside, Colafati, Giovanna Stefania, Carai, Andrea, Diomedi-Camassei, Francesca, De Billy, Emmanuel, Agolini, Emanuele, Mastronuzzi, Angela, Locatelli, Franco

    出版 2018
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  14. 14
    DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk

    DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk 由 Caroleo, Anna Maria, De Ioris, Maria Antonietta, Boccuto, Luigi, Alessi, Iside, Del Baldo, Giada, Cacchione, Antonella, Agolini, Emanuele, Rinelli, Martina, Serra, Annalisa, Carai, Andrea, Mastronuzzi, Angela

    出版 2021
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  15. 15
    Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

    Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management 由 Del Baldo, Giada, Carta, Roberto, Alessi, Iside, Merli, Pietro, Agolini, Emanuele, Rinelli, Martina, Boccuto, Luigi, Milano, Giuseppe Maria, Serra, Annalisa, Carai, Andrea, Locatelli, Franco, Mastronuzzi, Angela

    出版 2021
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  16. 16
    Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4

    Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4 由 Zaffina, Salvatore, Piano Mortari, Eva, Di Prinzio, Reparata Rosa, Cappa, Marco, Novelli, Antonio, Agolini, Emanuele, Raponi, Massimiliano, Dallapiccola, Bruno, Locatelli, Franco, Perno, Carlo Federico, Carsetti, Rita

    出版 2022
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  17. 17
    Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

    Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia 由 Micale, Lucia, Morlino, Silvia, Schirizzi, Annalisa, Agolini, Emanuele, Nardella, Grazia, Fusco, Carmela, Castellana, Stefano, Guarnieri, Vito, Villa, Roberta, Bedeschi, Maria Francesca, Grammatico, Paola, Novelli, Antonio, Castori, Marco

    出版 2020
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  18. 18
    Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas

    Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas 由 Ceglie, Giulia, Del Baldo, Giada, Agolini, Emanuele, Rinelli, Martina, Cacchione, Antonella, Del Bufalo, Francesca, Vinci, Maria, Carta, Roberto, Boccuto, Luigi, Miele, Evelina, Mastronuzzi, Angela, Locatelli, Franco, Carai, Andrea

    出版 2020
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  19. 19
    Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome

    Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome 由 Petruzzellis, Giuseppe, Valentini, Diletta, del Bufalo, Francesca, Ceglie, Giulia, Carai, Andrea, Colafati, Giovanna Stefania, Agolini, Emanuele, Diomedi-Camassei, Francesca, Corsetti, Tiziana, Alessi, Iside, Mastronuzzi, Angela, Locatelli, Franco, Cacchione, Antonella

    出版 2019
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  20. 20
    COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells

    COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells 由 Latini, Andrea, Agolini, Emanuele, Novelli, Antonio, Borgiani, Paola, Giannini, Rosalinda, Gravina, Paolo, Smarrazzo, Andrea, Dauri, Mario, Andreoni, Massimo, Rogliani, Paola, Bernardini, Sergio, Helmer-Citterich, Manuela, Biancolella, Michela, Novelli, Giuseppe

    出版 2020
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