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Luigi Bisceglia

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Michele Ciavarella; Michelina Coco; Filomena Baorda; Mario Bengala; Luigi Bisceglia; Camilla Caldarini; Maria Luigia Cavaliere; Massimiliano Chetta; Davide De Brasi; Renato Facchini; Vito Guarnieri; Roberto Lala; Pietro Palumbo; Barbara Pasini; Paola Raiteri; Margherita Silengo; Pietro Stanziale; Leopoldo Zelante; Leonardo D'agruma
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.
A Laborante; C Longo; P De Bonis; Luigi Bisceglia
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene.
Denise Cassandrini; Maria Roberta Cilio; Adele D'Amico; Carlo Dionisi Vici; Mara Doimo; Fabiana Fattori; Maria Chiara Meschini; Claudia Nesti; Vittoria Petruzzella; Fiorella Piemonte; Teresa Rizza; Leonardo Salviati; Filippo M Santorelli; Geppo Sartori; Alessandra Tessa; Giulia Tozzi; Marzia Bianchi; Luigi Bisceglia; Claudio Bruno; Rosalba Carrozzo; Martina Balestri; Enrico Bertini
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

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All Publications

2013: Michele Ciavarella; Michelina Coco; Filomena Baorda; Mario Bengala; Luigi Bisceglia; Camilla Caldarini; Maria Luigia Cavaliere; Massimiliano Chetta; Davide De Brasi; Renato Facchini; Vito Guarnieri; Roberto Lala; Pietro Palumbo; Barbara Pasini; Paola Raiteri; Margherita Silengo; Pietro Stanziale; Leopoldo Zelante; Leonardo D'agruma
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.
Gene 2013;515(2):339-48.
2013: A Laborante; C Longo; P De Bonis; Luigi Bisceglia
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene.
La Clinica terapeutica 2013;164(1):e41-3.
2013: Denise Cassandrini; Maria Roberta Cilio; Adele D'Amico; Carlo Dionisi Vici; Mara Doimo; Fabiana Fattori; Maria Chiara Meschini; Claudia Nesti; Vittoria Petruzzella; Fiorella Piemonte; Teresa Rizza; Leonardo Salviati; Filippo M Santorelli; Geppo Sartori; Alessandra Tessa; Giulia Tozzi; Marzia Bianchi; Luigi Bisceglia; Claudio Bruno; Rosalba Carrozzo; Martina Balestri; Enrico Bertini
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Journal of inherited metabolic disease 2013;36(1):43-53.
2012: Thomas Eggermann; Mariona Font-Llitjós; Luca dello Strologo; Anthoula Chatzikyriakidou; John Creemers; Klaus Zerres; Elon Pras; Luigi Bisceglia; Virginia Nunes; Manuel Palacin
Clinical utility gene card for: Cystinuria.
European journal of human genetics : EJHG 2012;20(2):.
2012: M Barbosa; Luigi Bisceglia; S Alves; P De Bonis; C Dias; A M Fortuna; L Lacerda; A Lopes; Esmeralda Martins; C Mota; M do Céu Mota; J Oliveira; D Quelhas; P Rodrigues-Santos; Maria Luís Cardoso
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
Clinical genetics 2012;81(1):47-55.
2011: Patrizia De Bonis; Antonio Laborante; Costanza Longo; Emilio Mazzilli; Costantina Pizzicoli; Raffaella Stallone; Leopoldo Zelante; Raffaela Barbano; Luigi Bisceglia
Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.
Molecular vision 2011;17():2482-94.
2010: Luigi Bisceglia; Stefano Zoccolella; Alessandra Torraco; Maria Rosaria Piemontese; Rosa Dell'Aglio; Angela Amati; Patrizia De Bonis; Lucia Artuso; Massimiliano Copetti; Filippo Maria Santorelli; Luigi Serlenga; Leopoldo Zelante; Enrico Bertini; Vittoria Petruzzella
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.
European journal of human genetics : EJHG 2010;18(6):636-41.
2010: Luigi Bisceglia; Lucia Fischetti; Patrizia De Bonis
Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2010;127(4):489.
2010: Luigi Bisceglia; Lucia Fischetti; Patrizia De Bonis
Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2010;127(4):488-9.
2010: Luigi Bisceglia; Pietro Stanziale
Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2010;127(4):472.
2010: Luigi Bisceglia; Pietro Stanziale
Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2010;127(4):472.
2010: Luigi Bisceglia; Pietro Stanziale
Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2010;127(4):473.
2010: Luigi Bisceglia; Pietro Stanziale
Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2010;127(4):472.
2010: Luigi Bisceglia; Lucia Fischetti
Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2010;127(4):472-3.
2010: Luigi Bisceglia; Lucia Fischetti; Patrizia De Bonis; Orazio Palumbo; Bartolomeo Augello; Pietro Stanziale; Massimo Carella; Leopoldo Zelante
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
Molecular genetics and metabolism 2010;99(1):42-52.
2009: Roberto Negro; Stefano Zoccolella; Rosa Dell'aglio; Angela Amati; Lucia Artuso; Luigi Bisceglia; Vito Lavolpe; Sergio Papa; Luigi Serlenga; Vittoria Petruzzella
Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.
Neuromuscular disorders : NMD 2009;19(6):423-6.
2009: Luigi Bisceglia; Patrizia De Bonis; Costantina Pizzicoli; Lucia Fischetti; Antonio Laborante; Michele Di Perna; Francesco Giuliani; Nicola Delle Noci; Luca Buzzonetti; Leopoldo Zelante
Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci.
Investigative ophthalmology & visual science 2009;50(3):1081-6.
2009: Doroti Pirulli; Sergio Crovella; Sheila Ulivi; Cristina Zadro; Sara Bertok; Sabina Rendine; Francesco Scolari; Marina Foramitti; Pietro Ravani; Dario Roccatello; SILVANA SAVOLDI; Giuseppina Cerullo; Salvatore Giovanni Lanzilotta; Luigi Bisceglia; Leopoldo Zelante; Jurgen Floege; Epstathios Alexopoulos; Dimitrios Kirmizis; Gian Marco Ghiggeri; Giovanni Frascà; Francesco Paolo Schena; Antonio Amoroso
Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy.
Journal of nephrology 2009;22(1):152-9.
2008: Anthoula Chatzikyriakidou; eirini louizou; George V Z Dedousis; Luigi Bisceglia; Helen Michelakakis; Ioannis Georgiou
An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
Molecular genetics and metabolism 2008;95(3):192-3.
2008: Michele Di Perna; eirini louizou; Lucia Fischetti; George Dedoussis; Pietro Stanziale; Helen Michelakakis; Leopoldo Zelante; Elon Pras; Luigi Bisceglia
Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.
Genetic testing 2008;12(3):351-5.
2007: Luigi Bisceglia; eirini louizou; Lucia Fischetti; George Dedoussis
Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2007;122(5):554.
2007: Luigi Bisceglia; eirini louizou; Michele Di Perna; George Dedoussis
Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2007;122(5):554.
2007: Luigi Bisceglia; Lucia Fischetti; Pietro Stanziale
Novel human pathological mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2007;122(5):553-4.
2007: Luigi Bisceglia; Lucia Fischetti; Pietro Stanziale
Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2007;122(5):553.
2007: Luigi Bisceglia; Haike Reznik-Wolf; Michele Di Perna; Elon Pras
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2007;122(2):215.
2007: Luigi Bisceglia; Michele Di Perna; Leopoldo Zelante
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2007;122(2):215.
2007: George Dedoussis; Eirini Louzou; Helene Michelekakis; Fotini Komianou; Michele Di Perna; Luigi Bisceglia
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2007;122(2):215.
2007: eirini louizou; Evangelos Karagiotis; Angelos Mpisas; Michele Di Perna; Luigi Bisceglia; George Dedoussis
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2007;122(2):214.
2007: eirini louizou; Nikolaos Papagalanis; George Ntatsis; Michele Di Perna; Luigi Bisceglia; George Dedoussis
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2007;122(2):214.
2007: eirini louizou; Helene Michelakakis; Fotini Komianou; Michele Di Perna; Luigi Bisceglia; Geroge Dedoussis
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2007;122(2):214.
2007: Luigi Bisceglia; Lucia Fischetti; Patrizia De Bonis
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2007;122(2):211.
2007: Luigi Bisceglia; Lucia Fischetti; Patrizia De Bonis
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2007;122(2):210.
2007: Luigi Bisceglia; Michele Di Perna; Leopoldo Zelante
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2007;122(2):210.
2007: Luigi Bisceglia; Pietro Stanziale; Leopoldo Zelante
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2007;122(2):209.
2007: Luigi Bisceglia; Michele Di Perna; Leopoldo Zelante
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2007;122(2):209.
2007: Luigi Bisceglia; Michele Di Perna; Leopoldo Zelante
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2007;122(2):208.
2007: Luigi Bisceglia; Michele Di Perna; Leopoldo Zelante
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2007;122(2):208.
2007: Luigi Bisceglia; Orazio Palumbo; Leopoldo Zelante
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2007;122(2):208.
2007: Luigi Bisceglia; Michele Di Perna; Leopoldo Zelante
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Human genetics 2007;122(2):207.
2007: Danny Lotan; Guy Yoskovitz; Luigi Bisceglia; Liora Gerad; Haike Reznik-Wolf; Elon Pras
A combined approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping.
The Israel Medical Association journal : IMAJ 2007;9(7):513-6.
2007: Davide Seripa; Maria Giovanna Matera; antonio daniele; Alessandra Bizzarro; M Rinaldi; Carolina Gravina; Luigi Bisceglia; R M Corbo; Francesco Panza; Vincenzo Solfrizzi; V M Fazio; G Dal Forno; Carlo Masullo; B Dallapiccola; Alberto Pilotto
The missing ApoE allele.
Annals of human genetics 2007;71(Pt 4):496-500.
2007: Luigi Bisceglia; Michele Di Perna
Gene symbol: SLC3A1.
Human genetics 2007;121(2):293.
2007: Francesco Paolo Schena; Giuseppina Cerullo; Diletta Domenica Torres; G Zaza; S Cox; Luigi Bisceglia; Francesco Scolari; G Frascá; Gian Marco Ghiggeri; Antonio Amoroso
Searching for IgA nephropathy candidate genes: genetic studies combined with high throughput innovative investigations.
Contributions to nephrology 2007;157():80-9.
2006: Luigi Bisceglia; Giuseppina Cerullo; Paola Forabosco; Diletta Domenica Torres; Francesco Scolari; Michele Di Perna; Marina Foramitti; Antonio Amoroso; Sara Bertok; Jürgen Floege; Peter R Mertens; Klaus Zerres; Efstathios Alexopoulos; Dimitrios Kirmizis; Mazzucco Ermelinda; Leopoldo Zelante; Francesco Paolo Schena
Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci.
American journal of human genetics 2006;79(6):1130-4.
2006: Vanessa Barbaro; Enzo Di Iorio; Stefano Ferrari; Luigi Bisceglia; Alessandro Ruzza; Michele De Luca; graziella pellegrini
Expression of VSX1 in human corneal keratocytes during differentiation into myofibroblasts in response to wound healing.
Investigative ophthalmology & visual science 2006;47(12):5243-50.
2006: Filippo Aucella; Luigi Bisceglia; Patrizia De Bonis; Maddalena Gigante; Gianluca Caridi; Giancarlo Barbano; Girolamo Mattioli; Francesco Perfumo; Loreto Gesualdo; Gian Marco Ghiggeri
WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.
Pediatric nephrology (Berlin, Germany) 2006;21(10):1393-8.
2006: Gian Marco Ghiggeri; Filippo Aucella; Gianluca Caridi; Luigi Bisceglia; Luciana Ghio; M Gigante; Francesco Perfumo; Michele Carraro; Loreto Gesualdo
Posttransplant recurrence of proteinuria in a case of focal segmental glomerulosclerosis associated with WT1 mutation.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2006;6(9):2208-11.
2006: Francesco Paolo Schena; Giuseppina Cerullo; Diletta Domenica Torres; Francesco Scolari; Marina Foramitti; Antonio Amoroso; Doroti Pirulli; Jürgen Floege; Peter R Mertens; Klaus Zerres; Efstathios Alexopoulos; Dimitrios Kirmizis; Leopoldo Zelante; Luigi Bisceglia
Role of interferon-gamma gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study.
European journal of human genetics : EJHG 2006;14(4):488-96.
2005: Virginia Nunes; Mariona Font-Llitjos; Maite Jimenez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacin; Virginia Nunes
Gene symbol: SLC3A1. Disease: Cystinuria.
Human genetics 2005;116(6):541.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):246.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):245.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):244.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):244.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):243.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):243.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):243.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):242.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; F Rousad; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):242.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):241.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):241.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):240.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Human genetics 2005;116(3):239.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):239.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):239.
2005: M Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Human genetics 2005;116(3):238.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):238.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jimenez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):237.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type I.
Human genetics 2005;116(3):237.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):237.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):236.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):235.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):234.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Human genetics 2005;116(3):234.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):233.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):232.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):232.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín; V Nunes
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):231.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):231.
2005: Pietro Stanziale; Maria Savino; Patrizia De Bonis; Matteo Granatiero; Leopoldo Zelante; Luigi Bisceglia
Indirect CFTR mutation identification by PCR/OLA anomalous electropherograms.
Genetic testing 2005;9(4):285-91.
2005: Francesco Paolo Schena; Giuseppina Cerullo; Diletta Domenica Torres; Francesco Scolari; Marina Foramitti; Antonio Amoroso; Doroti Pirulli; Jürgen Floege; Peter R Mertens; Klaus Zerres; Efstathios Alexopoulos; Dimitrios Kirmizis; Leopoldo Zelante; Luigi Bisceglia; Gian Marco Ghiggeri; Giovanni M Frascà
The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait.
BMC nephrology 2005;6():14.
2005: Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; L Zelante; M Palacín; V Nunes
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
Journal of medical genetics 2005;42(1):58-68.
2005: Filippo Aucella; Patrizia De Bonis; Giuseppe Gatta; Lucia Anna Muscarella; Mimmo Vigilante; Giuseppe di Giorgio; Michele D'Errico; Leopoldo Zelante; Carmine Stallone; Luigi Bisceglia
Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis.
Nephron. Clinical practice 2005;99(2):c31-6.
2005: Luigi Bisceglia; Marilena Ciaschetti; Patrizia De Bonis; Pablo Alberto Perafan Campo; Costantina Pizzicoli; Costanza Scala; Michele Grifa; Pio Ciavarella; Nicola Delle Noci; Filippo Vaira; Claudio Macaluso; Leopoldo Zelante
VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.
Investigative ophthalmology & visual science 2005;46(1):39-45.
2003: Filippo Aucella; Luigi Bisceglia; Carmine Stallone
[A genetic viewpoint of focal glomerular sclerosis: fom genes to glomerular pathophysiology [corrected]].
Giornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia 2003;20(4):356-67.
2002: Luca Dello Strologo; Elon Pras; Claudia Pontesilli; Ercole Beccia; Vittorino Ricci-Barbini; Luisa de Sanctis; Alberto Ponzone; Michele Gallucci; Luigi Bisceglia; Leopoldo Zelante; Maite Jimenez-Vidal; Mariona Font; Antonio Zorzano; Ferran Rousaud; Virginia Nunes; Paolo Gasparini; Manuel Palacín; Gianfranco Rizzoni
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
Journal of the American Society of Nephrology : JASN 2002;13(10):2547-53.
2001: Luisa de Sanctis; Giovanni Bonetti; M Bruno; F De Luca; Luigi Bisceglia; M Palacin; Irma Dianzani; Alberto Ponzone
Cystinuria phenotyping by oral lysine and arginine loading.
Clinical nephrology 2001;56(6):467-74.
2001: Salvatore Melchionda; Nadav Ahituv; Luigi Bisceglia; Tama Sobe; Fabian Glaser; Raquel Rabionet; Maria Lourdes Arbones; A Notarangelo; Enzo Di Iorio; Massimo Carella; Leopoldo Zelante; Xavier Estivill; Karen B Avraham; Paolo Gasparini
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
American journal of human genetics 2001;69(3):635-40.
2001: Luigi Bisceglia; Jesús Purroy; Maite Jiménez-Vidal; A P d'Adamo; Ferran Rousaud; Ercole Beccia; R Penza; Gianfranco Rizzoni; Michele Gallucci; Manuel Palacín; Paolo Gasparini; Virginia Nunes; Leopoldo Zelante
Cystinuria type I: identification of eight new mutations in SLC3A1.
Kidney international 2001;59(4):1250-6.
2001: Mariona Font; Lidia Feliubadaló; X Estivill; Virginia Nunes; E Golomb; Y Kreiss; Elon Pras; Luigi Bisceglia; A P d'Adamo; Leopoldo Zelante; Paolo Gasparini; Maria Teresa Bassi; A L George ; Marta Manzoni; M Riboni; Andrea Ballabio; Giuseppe Borsani; Núria Reig; Esperanza Fernández; Antonio Zorzano; Joan Bertran; Manuel Palacín
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
Human molecular genetics 2001;10(4):305-16.
2001: Laura Crisponi; Manila Deiana; A Loi; Francesca Chiappe; Manuela Uda; P Amati; Luigi Bisceglia; Leopoldo Zelante; Ramaiah Nagaraja; Susanna Porcu; Maria Serafina Ristaldi; R Marzella; Mariano Rocchi; M Nicolino; A Lienhardt-Roussie; A Nivelon; Alain Verloes; David Schlessinger; Paolo Gasparini; Dominique Bonneau; Antonio Cao; Giuseppe Pilia
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Nature genetics 2001;27(2):159-66.
2001: Marcella Martinelli; Luca Scapoli; Furio Pezzetti; Francesco Carinci; Paolo Carinci; Giordano Stabellini; Luigi Bisceglia; Fernando Gombos; Mauro Tognon
C677T variant form at the MTHFR gene and CL/P: a risk factor for mothers?
American journal of medical genetics 2001;98(4):357-60.
2000: Jesús Purroy; Luigi Bisceglia; J Jaeken; Paolo Gasparini; Manuel Palacín; Virginia Nunes
Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR.
Human mutation 2000;15(4):373-9.
1999: Lidia Feliubadaló; Luigi Bisceglia; Mariona Font; Luca Dello Strologo; Ercole Beccia; M Arslan-Kirchner; B Steinmann; Leopoldo Zelante; X Estivill; Antonio Zorzano; Manuel Palacín; Paolo Gasparini; Virginia Nunes
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.
Genomics 1999;60(3):362-5.
1999: L Feliubadaló; M Font; J Purroy; F Rousaud; X Estivill; V Nunes; E Golomb; M Centola; I Aksentijevich; Y Kreiss; B Goldman; M Pras; Daniel Kastner; E Pras; P Gasparini; Luigi Bisceglia; E Beccia; M Gallucci; L de Sanctis; A Ponzone; G F Rizzoni; L Zelante; M T Bassi; A L George; M Manzoni; A De Grandi; M Riboni; J K Endsley; A Ballabio; G Borsani; N Reig; E Fernández; R Estévez; M Pineda; D Torrents; M Camps; Jorge Lloberas; A Zorzano; M Palacín
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
Nature genetics 1999;23(1):52-7.
1998: Luigi Bisceglia; L D'Ambrosio; Maria Rosaria Piemontese; Massimo Carella; P Amati; Dominique Bonneau; Giuseppe Pilia; Paolo Gasparini; Leopoldo Zelante
Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene.
Molecular and cellular probes 1998;12(4):255-8.
1998: Vito Annese; ada piepoli; Angelo Andriulli; G Napolitano; Luigi Bisceglia; L Zelante; P Gasparini
Polymorphism of motilin gene in patients with Crohn's disease.
Digestive diseases and sciences 1998;43(4):715-9.
1997: Domenico Girelli; Roberto Corrocher; Luigi Bisceglia; Oliviero Olivieri; L Zelante; G Panozzo; P Gasparini
Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene.
Blood 1997;90(5):2084-8.
1997: S Calvano; E Memeo; Maria Rosaria Piemontese; Salvatore Melchionda; Luigi Bisceglia; Paolo Gasparini; Leopoldo Zelante
Detection of dystrophin deletion carriers using FISH analysis.
Clinical genetics 1997;52(1):17-22.
1997: Maria Rosaria Piemontese; E Memeo; Massimo Carella; P Amati; J C Chomel; Dominique Bonneau; Giuseppe Pilia; Antonio Cao; Harry A Drabkin; Robert M Gemmill; JM Rommens; Leopoldo Zelante; Paolo Gasparini; Luigi Bisceglia
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.
European journal of human genetics : EJHG 1997;5(3):171-4.
1997: Luigi Bisceglia; M J Calonge; Angela Totaro; Lidia Feliubadaló; Salvatore Melchionda; J García; Xavier Testar; Michele Gallucci; Alberto Ponzone; Leopoldo Zelante; Antonio Zorzano; X Estivill; Paolo Gasparini; Virginia Nunes; Manuel Palacín
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.
American journal of human genetics 1997;60(3):611-6.
1997: Paolo Gasparini; S Calvano; E Memeo; Luigi Bisceglia; Leopoldo Zelante
Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridization.
Annales de génétique 1997;40(4):227-8.
1996: J Purroy; Luigi Bisceglia; M J Calonge; Leopoldo Zelante; Xavier Testar; Antonio Zorzano; Xavier Estivill; Manuel Palacín; Virginia Nunes; Paolo Gasparini
Genomic structure and organization of the human rBAT gene (SLC3A1).
Genomics 1996;37(2):249-52.
1996: Luigi Bisceglia; M J Calonge; Luca Dello Strologo; Gianfranco Rizzoni; Luisa de Sanctis; M Gallucci; E Beccia; Xavier Testar; Antonio Zorzano; Xavier Estivill; Leopoldo Zelante; M Palacin; Paolo Gasparini; Virginia Nunes
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.
Human genetics 1996;98(4):447-51.
1996: Luisa de Sanctis; Michele Bruno; G Bonetti; D Cosseddu; Luigi Bisceglia; Alberto Ponzone; Irma Dianzani
Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients.
Journal of inherited metabolic disease 1996;19(2):243-5.
1995: Domenico Girelli; Roberto Corrocher; Luigi Bisceglia; Oliviero Olivieri; Lucia De Franceschi; Leopoldo Zelante; Paolo Gasparini
Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")
Blood 1995;86(11):4050-3.
1995: Silvia Anna Ciafrè; Monica Rinaldi; Paolo Gasparini; Davide Seripa; Luigi Bisceglia; L Zelante; Maria Giulia Farace; Vito Michele Fazio
Stability and functional effectiveness of phosphorothioate modified duplex DNA and synthetic 'mini-genes'.
Nucleic acids research 1995;23(20):4134-42.
1995: M J Calonge; V Volpini; Luigi Bisceglia; F Rousaud; Luisa de Sanctis; E Beccia; Leopoldo Zelante; Xavier Testar; Antonio Zorzano; Xavier Estivill
Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(21):9667-71.
1995: Paolo Gasparini; M J Calonge; Luigi Bisceglia; J Purroy; Irma Dianzani; A Notarangelo; F Rousaud; M Gallucci; Xavier Testar; Alberto Ponzone
Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.
American journal of human genetics 1995;57(4):781-8.
1995: Sergio Giannattasio; Luigi Bisceglia; P Lattanzio; A Grifa; Irma Dianzani; Paolo Gasparini; Ersilia Marra
Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model.
Molecular and cellular probes 1995;9(3):201-5.
1995: C Marigo; Cristina Bombieri; Luigi Bisceglia; Leopoldo Zelante; Paolo Gasparini; Pier Franco Pignatti
Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent.
Molecular and cellular probes 1995;9(2):139-41.
1995: Alberto Bonizzato; Luigi Bisceglia; C Marigo; ELENA NICOLIS; Cristina Bombieri; Carlo Castellani; G Borgo; Leopoldo Zelante; G Mastella; Giulio Cabrini
Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations.
Human genetics 1995;95(4):397-402.
1994: Paolo Gasparini; A Grifa; S Savasta; I Merlo; Luigi Bisceglia; Angela Totaro; Leopoldo Zelante
The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome.
Human genetics 1994;94(6):671-4.
1994: Luigi Bisceglia; A Grifa; Leopoldo Zelante; Paolo Gasparini
Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations.
Human mutation 1994;4(2):136-40.
1993: Paolo Gasparini; C Marigo; Luigi Bisceglia; ELENA NICOLIS; Leopoldo Zelante; Cristina Bombieri; G Borgo; Pier Franco Pignatti; Giulio Cabrini
Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.
Human mutation 1993;2(5):389-94.