Search Results - Agolini, Emanuele

Refine Results
  1. 1
    CUGC for lysinuric protein intolerance (LPI)

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

    Published 2020
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  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 by Paglietti, Maria Giovanna, Cherchi, Claudio, Porcaro, Federica, Agolini, Emanuele, Schiavino, Alessandra, Petreschi, Francesca, Novelli, Antonio, Cutrera, Renato

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  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 by Cocciadiferro, Dario, Agolini, Emanuele, Digilio, Maria Cristina, Sinibaldi, Lorenzo, Castori, Marco, Silvestri, Evelina, Dotta, Andrea, Dallapiccola, Bruno, Novelli, Antonio

    Published 2020
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  4. 4
    CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

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

    Published 2020
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  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 by Micale, Lucia, Guarnieri, Vito, Augello, Bartolomeo, Palumbo, Orazio, Agolini, Emanuele, Sofia, Valentina Maria, Mazza, Tommaso, Novelli, Antonio, Carella, Massimo, Castori, Marco

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  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 by Piazzolla, Mariano, Castellaneta, Nicola, Novelli, Antonio, Agolini, Emanuele, Cocciadiferro, Dario, Resta, Leonardo, Duda, Loren, Barone, Michele, Ierardi, Enzo, Di Leo, Alfredo

    Published 2020
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  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 by Siano, Maria Anna, De Maggio, Ilaria, Petillo, Roberta, Cocciadiferro, Dario, Agolini, Emanuele, Majolo, Massimo, Novelli, Antonio, Della Monica, Matteo, Piscopo, Carmelo

    Published 2022
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  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 by Ponzi, Emanuela, Gentile, Mattia, Agolini, Emanuele, Matera, Emilia, Palumbi, Roberto, Buonadonna, Antonia Lucia, Peschechera, Antonia, Gabellone, Alessandra, Antonucci, Maria Fatima, Margari, Lucia

    Published 2020
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  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 by Mastronuzzi, Angela, Fabozzi, Francesco, Rinelli, Martina, De Vito, Rita, Agolini, Emanuele, Colafati, Giovanna Stefania, Cacchione, Antonella, Carai, Andrea, De Ioris, Maria Antonietta

    Published 2022
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  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 by Radio, Francesca Clementina, Di Meglio, Lavinia, Agolini, Emanuele, Bellacchio, Emanuele, Rinelli, Martina, Toscano, Paolo, Boldrini, Renata, Novelli, Antonio, Di Meglio, Aniello, Dallapiccola, Bruno

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  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 by Pelizzo, Gloria, Collura, Mirella, Puglisi, Aurora, Pappalardo, Maria Pia, Agolini, Emanuele, Novelli, Antonio, Piccione, Maria, Cacace, Caterina, Bussani, Rossana, Corsello, Giovanni, Calcaterra, Valeria

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  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 by Calcaterra, Valeria, Avanzini, Maria Antonietta, Mantelli, Melissa, Agolini, Emanuele, Croce, Stefania, De Silvestri, Annalisa, Re, Giuseppe, Collura, Mirella, Maltese, Alice, Novelli, Antonio, Pelizzo, Gloria

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  13. 13
    BRAF V600E Inhibitor (Vemurafenib) for BRAF V600E Mutated Low Grade Gliomas

    BRAF V600E Inhibitor (Vemurafenib) for BRAF V600E Mutated Low Grade Gliomas by 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

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  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 by 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

    Published 2021
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  15. 15
    Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

    Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management by 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

    Published 2021
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  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 by 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

    Published 2022
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  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 by 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

    Published 2020
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  18. 18
    Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas

    Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas by 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

    Published 2020
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  19. 19
    Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome

    Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome by 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

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  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 by 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

    Published 2020
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:

Search Tools: