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
Bisceglia, Luigi, Fischetti, Lucia, Bonis, Patrizia De, Palumbo, Orazio, Augello, Bartolomeo, Stanziale, Pietro, Carella, Massimo, Zelante, Leopoldo
Published in Molecular genetics and metabolism (2010)
Published in Molecular genetics and metabolism (2010)
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Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis
Melchionda, Salvatore, Palladino, Teresa, Castellana, Stefano, Giordano, Mario, Benetti, Elisa, De Bonis, Patrizia, Zelante, Leopoldo, Bisceglia, Luigi
Published in Journal of human genetics (01.09.2016)
Published in Journal of human genetics (01.09.2016)
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Frequent epigenetics inactivation of KEAP1 gene in non-small cell lung cancer
Muscarella, Lucia Anna, Parrella, Paola, D'Alessandro, Vito, la Torre, Annamaria, Barbano, Raffaela, Fontana, Andrea, Tancredi, Antonio, Guarnieri, Vito, Balsamo, Teresa, Coco, Michelina, Copetti, Massimiliano, Pellegrini, Fabio, De Bonis, Patrizia, Bisceglia, Michele, Scaramuzzi, Gerardo, Maiello, Evaristo, Valori, Vanna Maria, Merla, Giuseppe, Vendemiale, Gianluigi, Fazio, Vito Michele
Published in Epigenetics (01.06.2011)
Published in Epigenetics (01.06.2011)
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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, Angelica, Bisceglia, Luigi, De Caro, Maria Fara, Galeandro, Valeria, De Bonis, Patrizia, Tullo, Apollonia, Zoccolella, Stefano, Guerriero, Silvana, Petruzzella, Vittoria
Published in BMC medical genetics (27.07.2018)
Published in BMC medical genetics (27.07.2018)
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Familial cleidocranial dysplasia misdiagnosed as rickets over three generations
Franceschi, Roberto, Maines, Evelina, Fedrizzi, Michela, Piemontese, Maria Rosaria, De Bonis, Patrizia, Agarwal, Nivedita, Bellizzi, Maria, Di Palma, Annunziata
Published in Pediatrics international (01.10.2015)
Published in Pediatrics international (01.10.2015)
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WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes
Aucella, Filippo, Bisceglia, Luigi, De Bonis, Patrizia, Gigante, Maddalena, Caridi, Gianluca, Barbano, Giancarlo, Mattioli, Gerolamo, Perfumo, Francesco, Gesualdo, Loreto, Ghiggeri, Gian Marco
Published in Pediatric nephrology (Berlin, West) (01.10.2006)
Published in Pediatric nephrology (Berlin, West) (01.10.2006)
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Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis
Aucella, Filippo, De Bonis, Patrizia, Gatta, Giuseppe, Muscarella, Lucia Anna, Vigilante, Mimmo, di Giorgio, Giuseppe, D'Errico, Michele, Zelante, Leopoldo, Stallone, Carmine, Bisceglia, Luigi
Published in Nephron. Clinical practice (01.01.2005)
Published in Nephron. Clinical practice (01.01.2005)
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Linkage Analysis in Keratoconus: Replication of Locus 5q21.2 and Identification of Other Suggestive Loci
Bisceglia, Luigi, De Bonis, Patrizia, Pizzicoli, Costantina, Fischetti, Lucia, Laborante, Antonio, Di Perna, Michele, Giuliani, Francesco, Delle Noci, Nicola, Buzzonetti, Luca, Zelante, Leopoldo
Published in Investigative ophthalmology & visual science (01.03.2009)
Published in Investigative ophthalmology & visual science (01.03.2009)
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Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus
De Bonis, Patrizia, Laborante, Antonio, Pizzicoli, Costantina, Stallone, Raffaella, Barbano, Raffaela, Longo, Costanza, Mazzilli, Emilio, Zelante, Leopoldo, Bisceglia, Luigi
Published in Molecular vision (24.09.2011)
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Published in Molecular vision (24.09.2011)
Journal Article
VSX1 Mutational Analysis in a Series of Italian Patients Affected by Keratoconus: Detection of a Novel Mutation
Bisceglia, Luigi, Ciaschetti, Marilena, De Bonis, Patrizia, Campo, Pablo Alberto Perafan, Pizzicoli, Costantina, Scala, Costanza, Grifa, Michele, Ciavarella, Pio, Noci, Nicola Delle, Vaira, Filippo, Macaluso, Claudio, Zelante, Leopoldo
Published in Investigative ophthalmology & visual science (01.01.2005)
Published in Investigative ophthalmology & visual science (01.01.2005)
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A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H
BISCEGLIA, Luigi, ZOCCOLELLA, Stefano, SERLENGA, Luigi, ZELANTE, Leopoldo, BERTINI, Enrico, PETRUZZELLA, Vittoria, TORRACO, Alessandra, PIEMONTESE, Maria Rosaria, DELL'AGLIO, Rosa, AMATI, Angela, DE BONIS, Patrizia, ARTUSO, Lucia, COPETTI, Massimiliano, SANTORELLI, Filippo Maria
Published in European journal of human genetics : EJHG (01.06.2010)
Published in European journal of human genetics : EJHG (01.06.2010)
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Indirect CFTR mutation identification by PCR/OLA anomalous electropherograms
Stanziale, Pietro, Savino, Maria, De Bonis, Patrizia, Granatiero, Matteo, Zelante, Leopoldo, Bisceglia, Luigi
Published in Genetic testing (01.12.2005)
Published in Genetic testing (01.12.2005)
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Familial cleidocranial dysplasia misdiagnosed as rickets over three generations
Franceschi, Roberto, Maines, Evelina, Fedrizzi, Michela, Piemontese, Maria Rosaria, De Bonis, Patrizia, Agarwal, Nivedita, Bellizzi, Maria, Di Palma, Annunziata
Published in Pediatrics International (01.10.2015)
Published in Pediatrics International (01.10.2015)
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Molecular Analysis of NPHS2 and ACTN4 Genes in a Series of 33 Italian Patients Affected by Adult-Onset Nonfamilial Focal Segmental Glomerulosclerosis
Aucella, Filippo, De Bonis, Patrizia, Gatta, Giuseppe, Muscarella, Lucia Anna, Vigilante, Mimmo, Giuseppe di Giorgio, D'Errico, Michele, Zelante, Leopoldo, Stallone, Carmine, Bisceglia, Luigi
Published in Nephron (01.02.2005)
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Published in Nephron (01.02.2005)
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