Hasil Pencarian - Emanuele Agolini

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  1. 1
    Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice

    Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice oleh Emanuele Agolini, Roberto Chimenz, Danilo Fintini, Vito Guarnieri, Laura Guazzarotti, Stefano Mora, Leonardo Salviati, Giovanna Weber

    Diterbitkan 2021-04-01
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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 oleh Maria Giovanna Paglietti, Claudio Cherchi, Federica Porcaro, Emanuele Agolini, Alessandra Schiavino, Francesca Petreschi, Antonio Novelli, Renato Cutrera

    Diterbitkan 2019-04-01
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  3. 3
    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 oleh Maria Anna Siano, Ilaria De Maggio, Roberta Petillo, Dario Cocciadiferro, Emanuele Agolini, Massimo Majolo, Antonio Novelli, Matteo Della Monica, Carmelo Piscopo

    Diterbitkan 2022-03-01
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  4. 4
    Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

    Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A oleh Fabio Sippelli, Silvana Briuglia, Chiara Ferraloro, Anna Paola Capra, Emanuele Agolini, Tiziana Abbate, Giorgia Pepe, Tommaso Aversa, Malgorzata Wasniewska, Domenico Corica

    Diterbitkan 2024-04-01
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  5. 5
    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 oleh Emanuela Ponzi, Mattia Gentile, Emanuele Agolini, Emilia Matera, Roberto Palumbi, Antonia Lucia Buonadonna, Antonia Peschechera, Alessandra Gabellone, Maria Fatima Antonucci, Lucia Margari

    Diterbitkan 2020-07-01
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  6. 6
    Liquid Biopsy with Detection of NRAS<sup>Q61K</sup> Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma

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

    Diterbitkan 2022-07-01
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  7. 7
    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 oleh Gloria Pelizzo, Mirella Collura, Aurora Puglisi, Maria Pia Pappalardo, Emanuele Agolini, Antonio Novelli, Maria Piccione, Caterina Cacace, Rossana Bussani, Giovanni Corsello, Valeria Calcaterra

    Diterbitkan 2019-03-01
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  8. 8
    Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease

    Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease oleh Francesco Fabozzi, Francesco Fabozzi, Rita De Vito, Stefania Gaspari, Fabrizio Leone, Maurizio Delvecchio, Emanuele Agolini, Federica Galaverna, Angela Mastronuzzi, Daria Pagliara, Maria Antonietta De Ioris

    Diterbitkan 2022-12-01
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  9. 9
    BRAF V600E Inhibitor (Vemurafenib) for BRAF V600E Mutated Low Grade Gliomas

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

    Diterbitkan 2018-11-01
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  10. 10
    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 oleh Anna Maria Caroleo, Maria Antonietta De Ioris, Luigi Boccuto, Luigi Boccuto, Iside Alessi, Giada Del Baldo, Antonella Cacchione, Emanuele Agolini, Martina Rinelli, Annalisa Serra, Andrea Carai, Angela Mastronuzzi

    Diterbitkan 2021-01-01
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  11. 11
    Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report

    Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aest... oleh Filippo Maria Panfili, Paola Valente, Andrea Ficari, Fabiana Cortellessa, Davide Vecchio, Michaela Veronika Gonfiantini, Paola Sabrina Buonuomo, Giovanna Stefania Colafati, Emanuele Agolini, Maria Bartuli, Alessandra Claudia Modugno, Marina Macchiaiolo

    Diterbitkan 2023-08-01
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  12. 12
    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 oleh Salvatore Zaffina, Eva Piano Mortari, Reparata Rosa Di Prinzio, Marco Cappa, Antonio Novelli, Emanuele Agolini, Massimiliano Raponi, Bruno Dallapiccola, Franco Locatelli, Franco Locatelli, Carlo Federico Perno, Rita Carsetti, Rita Carsetti

    Diterbitkan 2022-04-01
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  13. 13
    Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

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

    Diterbitkan 2021-02-01
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  14. 14
    Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants—differential diagnosis and recommendation for biochemical and genetic screening

    Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants—differential diagnosis and recommendation for biochemical and genetic screening oleh Rosalinda Giannini, Emanuele Agolini, Giuseppe Palumbo, Giuseppe Palumbo, Antonio Novelli, Giacomo Garone, Giacomo Garone, Melissa Grasso, Giovanna Stefania Colafati, Marta Matraxia, Eleonora Piccirilli, Annalisa Deodati, Annalisa Deodati, Giulia Ceglie, Giulia Ceglie

    Diterbitkan 2024-01-01
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  15. 15
    Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome

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

    Diterbitkan 2019-04-01
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  16. 16
    Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas

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

    Diterbitkan 2020-11-01
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  17. 17
    Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

    Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study oleh Dario Cocciadiferro, Tommaso Mazza, Davide Vecchio, Tommaso Biagini, Francesco Petrizzelli, Emanuele Agolini, Andrea Villani, Andrea Villani, Daniele Minervino, Diego Martinelli, Cristiano Rizzo, Sara Boenzi, Filippo Maria Panfili, Paola Sabrina Buonuomo, Marina Macchiaiolo, Andrea Bartuli, Antonio Novelli

    Diterbitkan 2024-01-01
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  18. 18
    Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation

    Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation oleh Claudia Alteri, Rossana Scutari, Valentino Costabile, Luna Colagrossi, Katia Yu La Rosa, Emanuele Agolini, Valentina Lanari, Sara Chiurchiù, Lorenza Romani, Anna Hermine Markowich, Paola Bernaschi, Cristina Russo, Antonio Novelli, Stefania Bernardi, Andrea Campana, Alberto Villani, Carlo Federico Perno

    Diterbitkan 2022-06-01
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  19. 19
    Publisher Correction: Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation

    Publisher Correction: Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation oleh Claudia Alteri, Rossana Scutari, Valentino Costabile, Luna Colagrossi, Katia Yu La Rosa, Emanuele Agolini, Valentina Lanari, Sara Chiurchiù, Lorenza Romani, Anna Hermine Markowich, Paola Bernaschi, Cristina Russo, Antonio Novelli, Stefania Bernardi, Andrea Campana, Alberto Villani, Carlo Federico Perno

    Diterbitkan 2022-07-01
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  20. 20
    SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome

    SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome oleh Anna Maria Caroleo, Silvia Rotulo, Emanuele Agolini, Marina Macchiaiolo, Luigi Boccuto, Manila Antonelli, Giovanna Stefania Colafati, Antonella Cacchione, Giacomina Megaro, Andrea Carai, Maria Antonietta De Ioris, Mariachiara Lodi, Assunta Tornesello, Valeria Simone, Filippo Torroni, Giuseppe Cinalli, Angela Mastronuzzi

    Diterbitkan 2023-08-01
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