Found: 22

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  • Novel Mutations and Unreported Clinical Features in KBG Syndrome.

    Published in:
    Molecular Syndromology, 2019, v. 10, n. 3, p. 130, doi. 10.1159/000496172
    By:
    • Scarano, Emanuela;
    • Tassone, Martina;
    • Graziano, Claudio;
    • Gibertoni, Dino;
    • Tamburrino, Federica;
    • Perri, annamaria;
    • Gnazzo, Maria;
    • Severi, Giulia;
    • Lepri, Francesca;
    • Mazzanti, Laura
    Publication type:
    Article

  • Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.

    Published in:
    Journal of Clinical Medicine, 2021, v. 10, n. 7, p. 1523, doi. 10.3390/jcm10071523
    By:
    • Alfieri, Paolo;
    • Caciolo, Cristina;
    • Lazzaro, Giulia;
    • Menghini, Deny;
    • Cumbo, Francesca;
    • Dentici, Maria Lisa;
    • Digilio, Maria Cristina;
    • Gnazzo, Maria;
    • Demaria, Francesco;
    • Pironi, Virginia;
    • Zampino, Giuseppe;
    • Novelli, Antonio;
    • Tartaglia, Marco;
    • Vicari, Stefano;
    • Tomba, Elena
    Publication type:
    Article

  • Clinical refinement of the SETD5‐associated phenotype in a child displaying novel features and KBG syndrome‐like appearance.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1623, doi. 10.1002/ajmg.a.62679
    By:
    • Pascolini, Giulia;
    • Gnazzo, Maria;
    • Novelli, Antonio;
    • Grammatico, Paola
    Publication type:
    Article

  • Congenital heart defects in molecularly confirmed KBG syndrome patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1149, doi. 10.1002/ajmg.a.62632
    By:
    • Digilio, Maria Cristina;
    • Calcagni, Giulio;
    • Gnazzo, Maria;
    • Versacci, Paolo;
    • Dentici, Maria Lisa;
    • Capolino, Rossella;
    • Sinibaldi, Lorenzo;
    • Baban, Anwar;
    • Putotto, Carolina;
    • Alfieri, Paolo;
    • Unolt, Marta;
    • Lepri, Francesca R.;
    • Alesi, Viola;
    • Genovese, Silvia;
    • Novelli, Antonio;
    • Marino, Bruno;
    • Dallapiccola, Bruno
    Publication type:
    Article

  • KBG syndrome: Common and uncommon clinical features based on 31 new patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1073, doi. 10.1002/ajmg.a.61524
    By:
    • Gnazzo, Maria;
    • Lepri, Francesca R;
    • Dentici, Maria Lisa;
    • Capolino, Rossella;
    • Pisaneschi, Elisa;
    • Agolini, Emanuele;
    • Rinelli, Martina;
    • Alesi, Viola;
    • Versacci, Paolo;
    • Genovese, Silvia;
    • Cesario, Claudia;
    • Sinibaldi, Lorenzo;
    • Baban, Anwar;
    • Bartuli, Andrea;
    • Marino, Bruno;
    • Cappa, Marco;
    • Dallapiccola, Bruno;
    • Novelli, Antonio;
    • Digilio, Maria Cristina
    Publication type:
    Article

  • Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 113, doi. 10.1002/ajmg.a.60674
    By:
    • de Billy, Emmanuel;
    • Strocchio, Luisa;
    • Cacchione, Antonella;
    • Agolini, Emanuele;
    • Gnazzo, Maria;
    • Novelli, Antonio;
    • De Vito, Rita;
    • Capolino, Rossella;
    • Digilio, Maria Cristina;
    • Caruso, Roberta;
    • Mastronuzzi, Angela;
    • Locatelli, Franco
    Publication type:
    Article

  • Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1991, doi. 10.1002/ajmg.a.40386
    By:
    • De Bernardi, Margherita Lucia;
    • Ivanovski, Ivan;
    • Caraffi, Stefano Giuseppe;
    • Maini, Ilenia;
    • Street, Maria Elisabeth;
    • Bayat, Allan;
    • Zollino, Marcella;
    • Lepri, Francesca Romana;
    • Gnazzo, Maria;
    • Errichiello, Edoardo;
    • Superti‐Furga, Andrea;
    • Garavelli, Livia
    Publication type:
    Article

  • Congenital heart defects in molecularly proven Kabuki syndrome patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2912, doi. 10.1002/ajmg.a.38417
    By:
    • Digilio, Maria Cristina;
    • Gnazzo, Maria;
    • Lepri, Francesca;
    • Dentici, Maria Lisa;
    • Pisaneschi, Elisa;
    • Baban, Anwar;
    • Passarelli, Chiara;
    • Capolino, Rossella;
    • Angioni, Adriano;
    • Novelli, Antonio;
    • Marino, Bruno;
    • Dallapiccola, Bruno
    Publication type:
    Article

  • Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome.

    Published in:
    Brain Sciences (2076-3425), 2019, v. 9, n. 11, p. 313, doi. 10.3390/brainsci9110313
    By:
    • Alfieri, Paolo;
    • Demaria, Francesco;
    • Licchelli, Serena;
    • Santonastaso, Ornella;
    • Caciolo, Cristina;
    • Digilio, Maria Cristina;
    • Sinibaldi, Lorenzo;
    • Leoni, Chiara;
    • Gnazzo, Maria;
    • Tartaglia, Marco;
    • Pasqualetti, Patrizio;
    • Vicari, Stefano
    Publication type:
    Article

  • Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy.

    Published in:
    Pediatric Cardiology, 2023, v. 44, n. 8, p. 1736, doi. 10.1007/s00246-023-03266-y
    By:
    • Righi, Daniela;
    • Porco, Luigina;
    • Di Mambro, Corrado;
    • Gnazzo, Maria;
    • Baban, Anwar;
    • Paglia, Simone;
    • Silvetti, Massimo Stefano;
    • Novelli, Antonio;
    • Tozzi, Alberto Eugenio;
    • Drago, Fabrizio
    Publication type:
    Article

  • Idiopathic Ventricular Fibrillation: Look for the Hidden Guilty—A case of aborted cardiac death.

    Published in:
    2021
    By:
    • Cicenia, Marianna;
    • Tamborrino, Pietro Paolo;
    • Silvetti, Massimo Stefano;
    • Albanese, Sonia;
    • Gnazzo, Maria;
    • Baban, Anwar;
    • Carotti, Adriano;
    • Secinaro, Aurelio;
    • Drago, Fabrizio
    Publication type:
    Case Study

  • Treatment of homozygous familial hypercholesterolaemia in paediatric patients: A monocentric experience.

    Published in:
    European Journal of Preventive Cardiology, 2018, v. 25, n. 10, p. 1098, doi. 10.1177/2047487318776836
    By:
    • Buonuomo, Paola S;
    • Macchiaiolo, Marina;
    • Leone, Giovanna;
    • Valente, Paola;
    • Mastrogiorgio, Gerarda;
    • Gnazzo, Maria;
    • Rana, Ippolita;
    • Gonfiantini, Michaela V;
    • Gagliardi, Maria G;
    • Romano, Francesca;
    • Bartuli, Andrea
    Publication type:
    Article

  • Usmani‐Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 1, p. 109, doi. 10.1111/cge.14531
    By:
    • Gnazzo, Maria;
    • Pascolini, Giulia;
    • Parlapiano, Giovanni;
    • Petrizzelli, Francesco;
    • Perrino, Daniele;
    • Porco, Luigina;
    • Bartuli, Andrea;
    • Novelli, Antonio;
    • Baban, Anwar
    Publication type:
    Article

  • Epilepsy in KBG syndrome.

    Published in:
    Developmental Medicine & Child Neurology, 2023, v. 65, n. 5, p. 712, doi. 10.1111/dmcn.15428
    By:
    • Auconi, Marina;
    • Serino, Domenico;
    • Digilio, Maria Cristina;
    • Gnazzo, Maria;
    • Conti, Marta;
    • Vigevano, Federico;
    • Fusco, Lucia
    Publication type:
    Article

  • Extensive Molecular Analysis Suggested the Strong Genetic Heterogeneity of Idiopathic Chronic Pancreatitis.

    Published in:
    Molecular Medicine, 2016, v. 22, n. 1, p. 300, doi. 10.2119/molmed.2016.00010
    By:
    • Sofia, Valentina Maria;
    • Da Sacco, Letizia;
    • Surace, Cecilia;
    • Tomaiuolo, Anna Cristina;
    • Genovese, Silvia;
    • Grotta, Simona;
    • Gnazzo, Maria;
    • Petrocchi, Stefano;
    • Ciocca, Laura;
    • Alghisi, Federico;
    • Montemitro, Enza;
    • Martemucci, Luigi;
    • Elce, Ausilia;
    • Lucidi, Vincenzina;
    • Castaldo, Giuseppe;
    • Angioni, Adriano
    Publication type:
    Article

  • Extensive Molecular Analysis Suggested the Strong Genetic Heterogeneity of Idiopathic Chronic Pancreatitis.

    Published in:
    Molecular Medicine, 2016, v. 22, p. 300, doi. 10.2119/molmed.2016.00010
    By:
    • Sofia, Valentina Maria;
    • Da Sacco, Letizia;
    • Surace, Cecilia;
    • Tomaiuolo, Anna Cristina;
    • Genovese, Silvia;
    • Grotta, Simona;
    • Gnazzo, Maria;
    • Petrocchi, Stefano;
    • Ciocca, Laura;
    • Alghisi, Federico;
    • Montemitro, Enza;
    • Martemucci, Luigi;
    • Elce, Ausilia;
    • Lucidi, Vincenzina;
    • Castaldo, Giuseppe;
    • Angioni, Adriano
    Publication type:
    Article

  • Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1080, doi. 10.1002/humu.22834
    By:
    • Cordeddu, Viviana;
    • Yin, Jiani C.;
    • Gunnarsson, Cecilia;
    • Virtanen, Carl;
    • Drunat, Séverine;
    • Lepri, Francesca;
    • Luca, Alessandro;
    • Rossi, Cesare;
    • Ciolfi, Andrea;
    • Pugh, Trevor J.;
    • Bruselles, Alessandro;
    • Priest, James R.;
    • Pennacchio, Len A.;
    • Lu, Zhibin;
    • Danesh, Arnavaz;
    • Quevedo, Rene;
    • Hamid, Alaa;
    • Martinelli, Simone;
    • Pantaleoni, Francesca;
    • Gnazzo, Maria
    Publication type:
    Article

  • Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients.

    Published in:
    2024
    By:
    • Goodkey, Kara;
    • Wischmeijer, Anita;
    • Perrin, Laurence;
    • Watson, Adrianne E. S.;
    • Qureshi, Leenah;
    • Cordelli, Duccio Maria;
    • Toni, Francesco;
    • Gnazzo, Maria;
    • Benedicenti, Francesco;
    • Elmaleh‑Berges, Monique;
    • Low, Karen J.;
    • Voronova, Anastassia
    Publication type:
    Correction Notice

  • Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients.

    Published in:
    2024
    By:
    • Goodkey, Kara;
    • Wischmeijer, Anita;
    • Perrin, Laurence;
    • Watson, Adrianne E. S.;
    • Qureshi, Leenah;
    • Cordelli, Duccio Maria;
    • Toni, Francesco;
    • Gnazzo, Maria;
    • Benedicenti, Francesco;
    • Elmaleh‑Berges, Monique;
    • Low, Karen J.;
    • Voronova, Anastassia
    Publication type:
    Correction Notice

  • Olfactory bulb anomalies in KBG syndrome mouse model and patients.

    Published in:
    BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-024-03363-6
    By:
    • Goodkey, Kara;
    • Wischmeijer, Anita;
    • Perrin, Laurence;
    • Watson, Adrianne E. S.;
    • Qureshi, Leenah;
    • Cordelli, Duccio Maria;
    • Toni, Francesco;
    • Gnazzo, Maria;
    • Benedicenti, Francesco;
    • Elmaleh-Bergès, Monique;
    • Low, Karen J.;
    • Voronova, Anastassia
    Publication type:
    Article

  • Olfactory bulb anomalies in KBG syndrome mouse model and patients.

    Published in:
    BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-024-03363-6
    By:
    • Goodkey, Kara;
    • Wischmeijer, Anita;
    • Perrin, Laurence;
    • Watson, Adrianne E. S.;
    • Qureshi, Leenah;
    • Cordelli, Duccio Maria;
    • Toni, Francesco;
    • Gnazzo, Maria;
    • Benedicenti, Francesco;
    • Elmaleh-Bergès, Monique;
    • Low, Karen J.;
    • Voronova, Anastassia
    Publication type:
    Article

  • Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

    Published in:
    BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/1471-2350-15-14
    By:
    • Lepri, Francesca Romana;
    • Scavelli, Rossana;
    • Digilio, Maria Cristina;
    • Gnazzo, Maria;
    • Grotta, Simona;
    • Dentici, Maria Lisa;
    • Pisaneschi, Elisa;
    • Sirleto, Pietro;
    • Capolino, Rossella;
    • Baban, Anwar;
    • Russo, Serena;
    • Franchin, Tiziana;
    • Angioni, Adriano;
    • Dallapiccola, Bruno
    Publication type:
    Article