IRCCS Casa Sollievo della Sofferrenza opera di San Pio da Pietrelcina

Informazioni aggiuntive

• Pubblicazioni Scientifiche:
  

  Totale pubblicazioni a partire dal 2011: 20

  
  

  2020; 11(4): Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing. Palumbo P, Palumbo O, Leone MP, di Muro E, Castellana S, Bisceglia L, Mazza T, Carella M, Castori M

  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

  BMC Res Notes 2018; 11(1): 911 Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers. Bianco A, Valletti A, Longo G, Bisceglia L, Montoya J, Emperador S, Guerriero S, Petruzzella V

  India journal of nephrology 2018; 28(1): 84-85 Cystinuria in a 13-month-old Girl with Absence of Mutations in the SLC3A1 and SLC7A9 Genes. Krishnamurthy S, Pavani C, Kurup PM, Palanisamy S, Jagadeesh A, Sekar K, Mahadevan S, Bisceglia L

  2018; 176(9): 2028-2033 A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. Castori M, Ott CE, Bisceglia L, Leone MP, Mazza T, Castellana S, Tomassi J, Lanciotti S, Mundlos S, Hennekam RC, Kornak U, Brancati F

  2018; (): A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion. Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C

  Acta Myologica 2017; 36(3): 163-177 Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects. Bianco A, Bisceglia L, Trerotoli P, Russo L, D'Agruma L, Guerriero S, Petruzzella V

  2017; 58(4): 2193-2197 High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON). Bianco A, Bisceglia L, Russo L, Palese LL, D'Agruma L, Emperador S, Montoya J, 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

  2015; 10(8): e0135855 Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus. Ludovico O, Carella M, Bisceglia L, Basile G, Mastroianno S, Palena A, De Cosmo S, Copetti M, Prudente S, Trischitta V

  2015; (): Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers. Bianco A, Martínez-Romero I, Bisceglia L, D'Agruma L, Favia P, Ruiz-Pesini E, Guerriero S, Montoya J, Petruzzella V

  2015; 64(1): A114 Comparison of clinical features and mortality rate of adult patients with mutigenerational diabetes and patients with type 2 diabetes Ludovico O., Carella M., Bisceglia L., Basile G., Mastroianno S., Palena A., Copetti M., De Cosmo S., Prudente S., Trischitta V.

  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; (): 20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L

  2012; (): Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E

  Minerva Oftalmologica 2012; 54: 39-45 Acute keratoconus in a patient with hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome) Longo C, Penna Caroppi FP, Gagliardo F, Bisceglia L, Laborante A

  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; 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; (): Clinical utility gene card for: Cystinuria. Eggermann T, Zerres K, Nunes V, Font-Llitjós M, Bisceglia L, Chatzikyriakidou A, Strologo LD, Pras E, Creemers J, Palacin M

  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