De Bonis Patrizia

Biologia molecolare, sviluppo di nuovi protocolli diagnostici.

Informazioni aggiuntive

  • Pubblicazioni Scientifiche:

    Totale pubblicazioni a partire dal 2011: 9


    Anno

    2018; 19(1): 129

    Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.

    Bianco A, Bisceglia L, De Caro MF, Galeandro V, De Bonis P, Tullo A, Zoccolella S, Guerriero S, Petruzzella V


    2016; ():

    Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

    Melchionda S, Palladino T, Castellana S, Giordano M, Benetti E, De Bonis P, Zelante L, Bisceglia L


    2013; 164(1): e41-3

    Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene.

    Laborante A, Longo C, De Bonis P, Bisceglia L


    2012; 22(6): 765-80

    The EphA2 Receptor Drives Self-Renewal and Tumorigenicity in Stem-like Tumor-Propagating Cells from Human Glioblastomas.

    Binda E, Visioli A, Giani F, Lamorte G, Copetti M, Pitter KL, Huse JT, Cajola L, Zanetti N, Dimeco F, De Filippis L, Mangiola A, Maira G, Anile C, De Bonis P, Reynolds BA, Pasquale EB, Vescovi AL


    XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 113

    Analisi dei geni VSX1, LOX, TIMP3 e SOD1 in 302 soggetti affetti da cheratocono

    De Bonis P, Laborante A, Pizzicoli C, Carella M, Zelante L, Bisceglia L

    2011; :

    Abstract D39 - XIII Congresso Nazionale di Oncologia Medica, Bologna 2011

    Muscarella LA et al.

    2011; 17(): 2482-94

    Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.

    De Bonis P, Laborante A, Pizzicoli C, Stallone R, Barbano R, Longo C, Mazzilli E, Zelante L, Bisceglia L


    2011; 6(6):

    Frequent epigenetics inactivation of KEAP1 gene in non-small cell lung cancer.

    Muscarella LA, Parrella P, D'Alessandro V, la Torre A, Barbano R, Fontana A, Tancredi A, Guarnieri V, Balsamo T, Coco M, Copetti M, Pellegrini F, De Bonis P, Bisceglia M, Scaramuzzi G, Maiello E, Valori VM, Merla G, Vendemiale G, Fazio VM


    2011; ():

    Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients.

    Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, do Céu Mota M, Dias C, Rodrigues-Santos P, Fortuna A, Quelhas D, Lacerda L, Bisceglia L, Cardoso M


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