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Leopoldo Zelante

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Italy

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TOP 3
Orazio Palumbo; Pietro Palumbo; Raffaella Stallone; Leopoldo Zelante; Leonardo D'agruma; Adelaide Franca Minenna; Teresa Palladino; Massimo Carella
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.
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.
Orazio Palumbo; Pietro Palumbo; Raffaella Stallone; Leopoldo Zelante; Teresa Palladino; Massimo Carella
8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.

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All Publications

2013: Orazio Palumbo; Pietro Palumbo; Raffaella Stallone; Leopoldo Zelante; Leonardo D'agruma; Adelaide Franca Minenna; Teresa Palladino; Massimo Carella
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.
Gene 2013;516(1):107-13.
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: Orazio Palumbo; Pietro Palumbo; Raffaella Stallone; Leopoldo Zelante; Teresa Palladino; Massimo Carella
8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.
Gene 2013;513(1):209-13.
2013: M Delvecchio; Ornella Ludovico; Sandra Mastroianno; T Palladino; M Sacco; R Stallone; Vincenzo Trischitta; Leopoldo Zelante; Emanuele Bellacchio; M Carella
MODY type 2 P59S GCK mutant: founder effect in South of Italy.
Clinical genetics 2013;83(1):83-7.
2012: Orazio Palumbo; Pietro Palumbo; Maria Rosaria Piemontese; Raffaella Stallone; Leopoldo Zelante; Mattia Miroballo; Teresa Palladino; Massimo Carella
An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review.
American journal of medical genetics. Part A 2012;158A(12):3182-9.
2012: Vito Guarnieri; Valerio Pazienza; Fabio Pellegrini; Pietro Stanziale; Angela Valentina D'Elia; Leopoldo Zelante; Filomena Baorda; Claudia Battista; Giorgia Benegiamo; Massimo Carella; Massimiliano Copetti; Leonardo D'agruma; Giuseppe Damante; Franco Grimaldi; Alfredo Scillitani
CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
Molecular genetics and metabolism 2012;107(3):548-52.
2012: Rossella Venditti; Barbara M Vertel; Cathal Wilson; Leopoldo Zelante; Galina V Beznoussenko; Giuseppe Di Tullio; Renato Gaibisso; Vivek Malhotra; Alexander Mironov; Alexander A Mironov; Angelo Notarangelo; Maria Rosaria Piemontese; Michele Santoro; Tiziana Scanu; Alexander Spaar; Maria Antonietta De Matteis
Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.
Science (New York, N.Y.) 2012;337(6102):1668-72.
2012: Orazio Palumbo; Pietro Palumbo; Raffaella Stallone; Leopoldo Zelante; Teresa Palladino; Massimo Carella
A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report.
Molecular cytogenetics 2012;5(1):1.
2011: Cristiano Marchisella; Lucia Anna Muscarella; Francesca Rolando; Leopoldo Zelante; Pietro Bracco; Maria Rosaria Piemontese
Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia.
European journal of orthodontics 2011;33(5):498-502.
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: Veronica Parri; Eleni Katzaki; Vera Uliana; Francesca Scionti; Rossella Tita; Rosangela Artuso; Ilaria Longo; Renske Boschloo; Raymon Vijzelaar; Angelo Selicorni; Francesco Brancati; Bruno Dallapiccola; Leopoldo Zelante; Christian P Hamel; Pierre Sarda; Seema R Lalani; Rita Grasso; Sabrina Buoni; Joussef Hayek; Laurent Servais; Bert B A de Vries; Nelly Georgoudi; Sheena Nakou; Michael B Petersen; Francesca Mari; Alessandra Renieri; Francesca Ariani
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
European journal of human genetics : EJHG 2010;18(10):1133-40.
2010: Massimo Carella; Filippo Spreafico; Orazio Palumbo; Clelia Tiziana Storlazzi; Silvia Tabano; Monica Miozzo; Lucia Miglionico; Savino Calvano; Giulia Sindici; Beatrice Gamba; Luciana Impera; Paola Collini; Leopoldo Zelante; Paolo Radice; Daniela Perotti
Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies.
American journal of medical genetics. Part A 2010;152A(7):1756-63.
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: Maria Savino; Maria Garrubba; Leopoldo Zelante; Filippo Aucella; Claudio Carmine Guida; Stefano Angelo Santini
Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.
Human genetics 2010;127(4):474.
2010: Lucia Micale; Maria Giuseppina Turturo; Carmela Fusco; Bartolomeo Augello; Luis A Pérez Jurado; Claudia Izzi; Maria Cristina Digilio; Donatella Milani; Elisabetta Lapi; Leopoldo Zelante; Giuseppe Merla
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.
European journal of human genetics : EJHG 2010;18(3):317-23.
2010: Lucia Anna Muscarella; Vito Guarnieri; Michelina Coco; Serena Belli; Paola Parrella; Giuseppe Pulcrano; Domenico Catapano; Vincenzo A D'Angelo; Leopoldo Zelante; Leonardo D'agruma
Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCR.
Journal of biomedicine & biotechnology 2010;2010():.
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.
2010: Vito D'Alessandro; Lucia Anna Muscarella; Annamaria la Torre; Michele Bisceglia; Paola Parrella; Gerardo Scaramuzzi; Clelia Tiziana Storlazzi; Domenico Trombetta; Klaas Kok; Angelo De Cata; Marco Sperandeo; Leopoldo Zelante; Massimo Carella; Gianluigi Vendemiale
Molecular analysis of the HuD gene in neuroendocrine lung cancers.
Lung cancer (Amsterdam, Netherlands) 2010;67(1):69-75.
2009: Elona Cama; Maria Stella Alemanno; Emanuele Bellacchio; Rosamaria Santarelli; Massimo Carella; Leopoldo Zelante; Teresa Palladino; Ingrid Inches; Francesco di Paola; Edoardo Arslan; Salvatore Melchionda
Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.
International journal of pediatric otorhinolaryngology 2009;73(10):1458-63.
2009: Lucia Micale; Bartolomeo Augello; Carmela Fusco; Maria Giuseppina Turturo; Matteo Granatiero; Maria Rosaria Piemontese; Leopoldo Zelante; Antonella Cecconi; Giuseppe Merla
GPR143 mutational analysis in two Italian families with X-linked ocular albinism.
Genetic testing and molecular biomarkers 2009;13(4):527-31.
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: Lucia Micale; Lucia Anna Muscarella; Marco Marzulli; Bartolomeo Augello; Patrizia Tritto; Leonardo D'agruma; Leopoldo Zelante; Gioacchino Palumbo; Giuseppe Merla
VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line.
Journal of biomedicine & biotechnology 2009;2009():860761.
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.
2009: Elona Cama; Salvatore Melchionda; Teresa Palladino; Massimo Carella; Rosamaria Santarelli; Elisabetta Genovese; Filippo Benettazzo; Leopoldo Zelante; Edoardo Arslan
Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.
International journal of audiology 2009;48(1):12-7.
2009: Cristina Zadro; Maria Stella Alemanno; Emanuele Bellacchio; Romina Ficarella; Francesca Donaudy; Salvatore Melchionda; Leopoldo Zelante; Raquel Rabionet; Nele Hilgert; Xavier Estivill; Guy Van Camp; Paolo Gasparini; Massimo Carella
Are MYO1C and MYO1F associated with hearing loss?
Biochimica et biophysica acta 2009;1792(1):27-32.
2009: Maria Stella Alemanno; Elona Cama; Rosamaria Santarelli; Massimo Carella; Leopoldo Zelante; Luisa Toffolatti; Teresa Palladino; Salvatore Melchionda; Edoardo Arslan
A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.
International journal of pediatric otorhinolaryngology 2009;73(1):127-31.
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.
2008: Vito D'Alessandro; Lucia Anna Muscarella; Massimiliano Copetti; Leopoldo Zelante; Massimo Carella; Gianluigi Vendemiale
Molecular detection of neuron-specific ELAV-like-positive cells in the peripheral blood of patients with small-cell lung cancer.
Cellular oncology : the official journal of the International Society for Cellular Oncology 2008;30(4):291-7.
2007: Luigi Bisceglia; Michele Di Perna; Leopoldo Zelante
Human gene mutations. Gene symbol: SLC7A9. 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):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: Maria Savino; Maria Garrubba; Paola Parrella; Filomena Baorda; Massimiliano Copetti; Roberto Murgo; Leopoldo Zelante; Massimo Carella; Vanna Maria Valori; Stefano Angelo Santini
Development of real-time quantitative reverse transcription-PCR for Her2 detection in peripheral blood from patients with breast cancer.
Clinica chimica acta; international journal of clinical chemistry 2007;384(1-2):52-6.
2007: Lucia Anna Muscarella; Maria Rosaria Piemontese; Raffaela Barbano; Antonina Fazio; Vito Guarnieri; Alessandro Quattrone; Leopoldo Zelante
Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.
Biomolecular engineering 2007;24(2):231-6.
2007: Lucia Anna Muscarella; Raffaela Barbano; Bartolomeo Augello; Vincenza Formica; Lucia Micale; Leopoldo Zelante; Leonardo D'agruma; Giuseppe Merla
An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma.
Journal of human genetics 2007;52(6):485-91.
2007: Vito Guarnieri; Lucia A Muscarella; Rosina Amoroso; Alessandro Quattrone; Massimo E Abate; Michelina Coco; Domenico Catapano; Vincenzo A D'Angelo; Leopoldo Zelante; Leonardo D'agruma
Identification of two novel mutations and of a novel critical region in the KRIT1 gene.
Neurogenetics 2007;8(1):29-37.
2006: Sibylle Strenge; Annegret Kujat; Leopoldo Zelante; Ursula G Froster
A microdeletion 22q11.2 can resemble Shprintzen-Goldberg omphalocele syndrome.
American journal of medical genetics. Part A 2006;140(24):2838-9.
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: Massimiliano Bicego; Martina Beltramello; Salvatore Melchionda; Massimo Carella; Valeria Piazza; Leopoldo Zelante; Feliksas F Bukauskas; Edoardo Arslan; Elona Cama; Sergio Pantano; Roberto Bruzzone; Paola D'Andrea; Fabio Mammano
Pathogenetic role of the deafness-related M34T mutation of Cx26.
Human molecular genetics 2006;15(17):2569-87.
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.
2006: Leopoldo Zelante; Michele Germano; Michele Sacco; Savino Calvano
Shprintzen-Goldberg omphalocele syndrome: a new patient with an expanded phenotype.
American journal of medical genetics. Part A 2006;140(4):383-4.
2006: Vincenzo A D'Angelo; Costanzo De Bonis; Rosina Amoroso; Alessandro Cali; Leonardo D'agruma; Vito Guarnieri; Lucia Anna Muscarella; Leopoldo Zelante; Michele Bisceglia; Tommaso Scarabino; Domenico Catapano
Supratentorial cerebral cavernous malformations: clinical, surgical, and genetic involvement.
Neurosurgical focus 2006;21(1):e9.
2006: Elvira Grandone; Anna Maria Corrao; Donatella Colaizzo; Gennaro Vecchione; Caterina Di Girgenti; Dario Paladini; Luigi Sardella; Michele Pellegrino; Leopoldo Zelante; Pasquale Martinelli; Maurizio Margaglione
Homocysteine metabolism in families from southern Italy with neural tube defects: role of genetic and nutritional determinants.
Prenatal diagnosis 2006;26(1):1-5.
2005: Salvatore Melchionda; Massimiliano Bicego; Elio Marciano; Annamaria Franzè; Marcello Morgutti; Grazia Bortone; Leopoldo Zelante; Massimo Carella; Paola D'Andrea
Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss.
Biochemical and biophysical research communications 2005;337(3):799-805.
2005: Domenico Catapano; Lucia Anna Muscarella; Vito Guarnieri; Leopoldo Zelante; Vincenzo A D'Angelo; Leonardo D'agruma
Hemangioblastomas of central nervous system: molecular genetic analysis and clinical management.
Neurosurgery 2005;56(6):1215-21; discussion 1221.
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: Elena Cittera; Chiara Onofri; Maria D'Apolito; Guillaume Cartron; Giovanni Cazzaniga; Leopoldo Zelante; Paolo Paolucci; Andrea Biondi; Martino Introna; Josée Golay
Rituximab induces different but overlapping sets of genes in human B-lymphoma cell lines.
Cancer immunology, immunotherapy : CII 2005;54(3):273-86.
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; 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; 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; L Biceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín; V Nunes
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: 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.
2005: Howard T Jacobs; Tim Hutchin; Timo Käppi; Greta Gillies; Kia Minkkinen; John Walker; Karen Thompson; Anja T Rovio; Massimo Carella; Salvatore Melchionda; Leopoldo Zelante; Paolo Gasparini; Ilmari Pyykkö; Zahid Hussain Shah; Massimo Zeviani; Robert F Mueller
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.
European journal of human genetics : EJHG 2005;13(1):26-33.
2004: Maria Savino; Maria D'Apolito; Vincenza Formica; Filomena Baorda; Francesca Mari; Alessandra Renieri; Enrico Carabba; Enrico Tarantino; Elena Andreucci; Serena Belli; Lorenzo Lo Muzio; Bruno Dallapiccola; Leopoldo Zelante; Anna Savoia
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.
Human mutation 2004;24(5):441.
2004: Antonio M Persico; Leonardo D'agruma; Leopoldo Zelante; Roberto Militerni; Carmela Bravaccio; Cindy Schneider; Raun Melmed; Simona Trillo; Francesco Montecchi; Maurizio Elia; MT Palermo; daniel rabinowitz; Tiziana Pascucci; Stefano Puglisi-Allegra; Karl-Ludvig Reichelt; Lucianna Muscarella; Vito Guarnieri; J-M Melgari; Monica Conciatori; Flavio Keller
Enhanced APOE2 transmission rates in families with autistic probands.
Psychiatric genetics 2004;14(2):73-82.
2004: Francesca Donaudy; Rikkert L Snoeckx; Markus Pfister; Hans-Peter Zenner; nikolaus blin; Mariateresa Di Stazio; Antonella Ferrara; Carmela Lanzara; Romina Ficarella; Frank Declau; Carsten M Pusch; Peter Nürnberg; Salvatore Melchionda; Leopoldo Zelante; Ester Ballana; Xavier Estivill; Guy Van Camp; Paolo Gasparini; Anna Savoia
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
American journal of human genetics 2004;74(4):770-6.
2004: Antonio Pizzuti; Elisabetta Flex; Rita Mingarelli; Carmelo Damiano Salpietro; Leopoldo Zelante; Bruno Dallapiccola
A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.
Human mutation 2004;23(3):286.
2004: Monica Conciatori; Stodgell Christopher; Susan L Hyman; Melanie O'Bara; Roberto Militerni; Carmela Bravaccio; Simona Trillo; Francesco Montecchi; Cindy Schneider; Raun Melmed; Maurizio Elia; Lori Crawford; Sarah J Spence; Lucianna Muscarella; Vito Guarnieri; Leonardo D'agruma; Alessandro Quattrone; Leopoldo Zelante; Daniel Rabinowitz; Tiziana Pascucci; Stefano Puglisi-Allegra; Karl-Ludvig Reichelt; Patricia M Rodier; Antonio M Persico
Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.
Biological psychiatry 2004;55(4):413-9.
2003: Leopoldo Zelante; Maria Rosaria Piemontese; G Francioli; S Calvano
Two 48,XXYY patients: clinical, cytogenetic and molecular aspects.
Annales de génétique 2003;46(4):479-81.
2003: Maria Savino; Adriana Borriello; Maria D'Apolito; Maria Criscuolo; Maria Del Vecchio; Anna Monica Bianco; Michele Di Perna; Rita Calzone; Bruno Nobili; Adriana Zatterale; Leopoldo Zelante; Hans Joenje; Fulvio Della Ragione; Anna Savoia
Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant.
Human mutation 2003;22(4):338-9.
2003: Francesco Perri; ada piepoli; Pietro Stanziale; Antonio Merla; Leopoldo Zelante; Angelo Andriulli
Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis.
European journal of human genetics : EJHG 2003;11(9):687-92.
2003: Leopoldo Zelante; Maria M Ruscitto
Fusion of vertebrae, diaphragmatic hernia and unusual facies in a girl: a possible further case of Mathieu syndrome.
Clinical dysmorphology 2003;12(3):207-8.
2003: Francesca Donaudy; Antonella Ferrara; Laura Esposito; Ronna Hertzano; Orit Ben-David; Rachel E Bell; Salvatore Melchionda; Leopoldo Zelante; Karen B Avraham; Paolo Gasparini
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.
American journal of human genetics 2003;72(6):1571-7.
2003: Leopoldo Zelante; A I Croce; A Grifa; Angelo Notarangelo; S Calvano
Interstitial "de novo" tandem duplication of 7(q31.1-q35): first reported case.
Annales de génétique 2003;46(1):49-52.
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.
2002: Paola D'Andrea; Valentina Veronesi; Massimiliano Bicego; Salvatore Melchionda; Leopoldo Zelante; Enzo Di Iorio; Roberto Bruzzone; Paolo Gasparini
Hearing loss: frequency and functional studies of the most common connexin26 alleles.
Biochemical and biophysical research communications 2002;296(3):685-91.
2002: S Calvano; G P de Cillis; A I Croce; G Perla; Angelo Notarangelo; Leopoldo Zelante
A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea.
Annales de génétique 2002;45(3):137-40.
2002: Núria López-Bigas; Salvatore Melchionda; Rafael de Cid; A Grifa; Leopoldo Zelante; N Govea; Maria L Arbonés; Paolo Gasparini; Xavier Estivill
Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Human mutation 2002;20(1):77-8.
2002: Maria D'Apolito; Vito Guarnieri; Marianna Boncristiano; Leopoldo Zelante; Anna Savoia
Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes.
Gene 2002;286(2):215-22.
2002: Marco Seri; Maria Savino; Domenico Bordo; Roberto Cusano; Bianca Rocca; Ilaria Meloni; Filomena Di Bari; Pasi A Koivisto; Martino Bolognesi; Gian Marco Ghiggeri; Raffaele Landolfi; Carlo L Balduini; Leopoldo Zelante; Roberto Ravazzolo; Alessandra Renieri; Anna Savoia
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
Human genetics 2002;110(2):182-6.
2001: Núria López-Bigas; Salvatore Melchionda; Rafael de Cid; A Grifa; Leopoldo Zelante; N Govea; Maria L Arbonés; Paolo Gasparini; Xavier Estivill
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Human mutation 2001;18(6):548.
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: Antonio M Persico; Leonardo D'agruma; N Maiorano; Angela Totaro; Roberto Militerni; Carmela Bravaccio; T H Wassink; Cindy Schneider; Raun Melmed; Simona Trillo; Francesco Montecchi; MT Palermo; Tiziana Pascucci; Stefano Puglisi-Allegra; Karl-Ludvig Reichelt; Monica Conciatori; R Marino; Carlo C Quattrocchi; Alfonso Baldi; Leopoldo Zelante; P Gasparini; Flavio Keller
Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder.
Molecular psychiatry 2001;6(2):150-9.
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.
2000: Marco Seri; Roberto Cusano; Simone Gangarossa; Gianluca Caridi; Domenico Bordo; Cristiana Lo Nigro; Gian Marco Ghiggeri; Roberto Ravazzolo; Maria Savino; M Del Vecchio; Maria D'Apolito; Achille Iolascon; Leopoldo Zelante; Anna Savoia; Carlo L Balduini; Patrizia Noris; Umberto Magrini; S Belletti; Karen E Heath; M Babcock; Marc J Glucksman; E Aliprandis; Nicola Bizzaro; Robert J Desnick; John A Martignetti
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Nature genetics 2000;26(1):103-5.
2000: Raquel Rabionet; Leopoldo Zelante; Núria López-Bigas; L D'Agruma; Salvatore Melchionda; G Restagno; Maria L Arbonés; Paolo Gasparini; Xavier Estivill
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
Human genetics 2000;106(1):40-4.
2000: Paolo Gasparini; Raquel Rabionet; G Barbujani; S Melçhionda; M Petersen; K Brøndum-Nielsen; Andres Metspalu; Eneli Oitmaa; M Pisano; Paolo Fortina; Leopoldo Zelante; Xavier Estivill
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
European journal of human genetics : EJHG 2000;8(1):19-23.
1999: Anna Savoia; M Del Vecchio; Angela Totaro; Silverio Perrotta; Giovanni Amendola; A Moretti; Leopoldo Zelante; Achille Iolascon
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.
American journal of human genetics 1999;65(5):1401-5.
1999: Maria Savino; Maria D'Apolito; Marta Centra; Hetty M van Beerendonk; Anne-Marie Cleton-Jansen; Scott A Whitmore; Joanna Crawford; David F Callen; Leopoldo Zelante; Anna Savoia
Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3.
Genomics 1999;61(2):219-26.
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: A Grifa; C A Wagner; L D'Ambrosio; Salvatore Melchionda; F Bernardi; N Lopez-Bigas; Raquel Rabionet; Maria Lourdes Arbones; M D Monica; Xavier Estivill; Leopoldo Zelante; F Lang; Paolo Gasparini
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
Nature genetics 1999;23(1):16-8.
1999: Marco Seri; Salvatore Melchionda; S Dreyer; Monica Marini; Massimo Carella; Roberto Cusano; Maria Rosaria Piemontese; Francesco Caroli; Margherita Silengo; Leopoldo Zelante; Giovanni Romeo; Roberto Ravazzolo; Paolo Gasparini; B Lee
Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.
International journal of molecular medicine 1999;4(3):285-90.
1999: Achille Iolascon; Gordon W Stewart; JF Ajetunmobi; Silverio Perrotta; Jean Delaunay; Massimo Carella; Leopoldo Zelante; Paolo Gasparini
Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis).
Blood 1999;93(9):3120-3.
1999: Antonella Roetto; Angela Totaro; Mario Cazzola; M Cicilano; Sandra Bosio; G D'Ascola; Massimo Carella; Leopoldo Zelante; AL Kelly; Timothy M Cox; Paolo Gasparini; Clara Camaschella
Juvenile hemochromatosis locus maps to chromosome 1q.
American journal of human genetics 1999;64(5):1388-93.
1999: Joanna Crawford; L Ianzano; Maria Savino; Scott A Whitmore; Anne-Marie Cleton-Jansen; C Settasatian; Maria D'Apolito; Ram Seshadri; Jan C Pronk; Arleen D Auerbach; Peter C Verlander; Christopher G Mathew; Alex J Tipping; Norman A Doggett; Leopoldo Zelante; David F Callen; Anna Savoia
The PISSLRE gene: structure, exon skipping, and exclusion as tumor suppressor in breast cancer.
Genomics 1999;56(1):90-7.
1999: Achille Iolascon; Maria Felicia Faienza; Marta Centra; S Storelli; Leopoldo Zelante; Anna Savoia
(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome.
Haematologica 1999;84(2):106-9.
1999: Núria López-Bigas; Raquel Rabionet; Rafael de Cid; N Govea; Paolo Gasparini; Leopoldo Zelante; Maria L Arbonés; Xavier Estivill
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.
Human mutation 1999;14(6):520-6.
1998: Angela Totaro; A Grifa; Massimo Carella; JM Rommens; MA Valentino; Antonella Roetto; Leopoldo Zelante; Paolo Gasparini
Cloning of a new gene (FB19) within HLA class I region.
Biochemical and biophysical research communications 1998;250(3):555-7.
1998: A Grifa; Angela Totaro; JM Rommens; Massimo Carella; Antonella Roetto; L Borgato; Leopoldo Zelante; Paolo Gasparini
GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene.
Biochemical and biophysical research communications 1998;250(2):240-5.
1998: Massimo Carella; G Stewart; JF Ajetunmobi; Silverio Perrotta; Sabine Grootenboer; Gil Tchernia; Jean Delaunay; Angela Totaro; Leopoldo Zelante; Paolo Gasparini; Achille Iolascon
Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter).
American journal of human genetics 1998;63(3):810-6.
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: Marta Centra; E Memeo; Maria D'Apolito; Maria Savino; L Ianzano; A Notarangelo; J Liu; Norman A Doggett; Leopoldo Zelante; Anna Savoia
Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.
Genomics 1998;51(3):463-7.
1998: P Gasparini; A De Fazio; A I Croce; P Stanziale; Leopoldo Zelante
Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.
Journal of medical genetics 1998;35(8):666-7.
1998: Salvatore Melchionda; Marco Seri; Massimo Carella; Maria Rosaria Piemontese; X X Zhang; Leopoldo Zelante; Giovanni Romeo; Paolo Gasparini
Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.
European journal of human genetics : EJHG 1998;6(4):345-9.
1998: Maria D'Apolito; Leopoldo Zelante; Anna Savoia
Molecular basis of Fanconi anemia.
Haematologica 1998;83(6):533-42.
1998: Xavier Estivill; Paolo Fortina; Saul Surrey; Raquel Rabionet; Salvatore Melchionda; L D'Agruma; ES Mansfield; E Rappaport; N Govea; M Milà; Leopoldo Zelante; Paolo Gasparini
Connexin-26 mutations in sporadic and inherited sensorineural deafness.
Lancet 1998;351(9100):394-8.
1997: Maria Savino; L Ianzano; Pierluigi Strippoli; Ugo Ramenghi; A Arslanian; Gian Paolo Bagnara; Hans Joenje; Leopoldo Zelante; Anna Savoia
Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.
American journal of human genetics 1997;61(6):1246-53.
1997: Achille Iolascon; Emanuele Miraglia del Giudice; Silverio Perrotta; M Granatiero; Leopoldo Zelante; Paolo Gasparini
Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II).
Blood 1997;90(10):4197-200.
1997: Paolo Gasparini; Emanuele Miraglia del Giudice; Jean Delaunay; Angela Totaro; M Granatiero; Salvatore Melchionda; Leopoldo Zelante; Achille Iolascon
Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search.
American journal of human genetics 1997;61(5):1112-6.
1997: Leopoldo Zelante; Paolo Gasparini; Xavier Estivill; Salvatore Melchionda; L D'Agruma; N Govea; M Milá; M D Monica; J Lutfi; M Shohat; ES Mansfield; Kathleen Delgrosso; E Rappaport; Saul Surrey; Paolo Fortina
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
Human molecular genetics 1997;6(9):1605-9.
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: L Ianzano; Maria D'Apolito; Marta Centra; Maria Savino; Orna Levran; Arleen D Auerbach; Anne-Marie Cleton-Jansen; Norman A Doggett; Jan C Pronk; Alex J Tipping; Robert Alan Gibson; Christopher G Mathew; Scott A Whitmore; S Apostolou; David F Callen; Leopoldo Zelante; Anna Savoia
The genomic organization of the Fanconi anemia group A (FAA) gene.
Genomics 1997;41(3):309-14.
1997: Leopoldo Zelante; P Gasparini; A Castriota Scanderbeg; L Dimitri; M Criconia; R J Gorlin
Goldenhar complex: a further case with uncommon associated anomalies.
American journal of medical genetics 1997;69(4):418-21.
1997: Paolo Gasparini; Xavier Estivill; V Volpini; A Totaro; S Castellvi-Bel; N Govea; M Mila; M Della Monica; V Ventruto; M De Benedetto; P Stanziale; Leopoldo Zelante; ES Mansfield; L Sandkuijl; Saul Surrey; Paolo Fortina
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.
European journal of human genetics : EJHG 1997;5(2):83-8.
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.
1997: Leopoldo Zelante; B Dallapiccola; S Calvano; E Memeo; Paolo Gasparini; P Simi; S Rossi; Palma Finelli; M Rocchi; Nicoletta Archidiacono
Two mosaic-YY males carrying asymmetric Y chromosomes.
Clinical genetics 1997;51(1):65-8.
1997: Anna Savoia; Maria Rosaria Piemontese; Maria Savino; Adriana Zatterale; J Pronk; Fré Arwert; Hans Joenje; Ugo Ramenghi; F Dagna-Bricarelli; Bruno Dallapiccola; Leopoldo Zelante
Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene.
Human genetics 1997;99(1):93-7.
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: Piergiorgio Franceschini; Andrea Guala; M P Vardeu; F Signorile; Daniele Franceschini; P Mastroiacovo; A Gianotti; E Livini; Faustina Lalatta; Angelo Selicorni; generoso andria; G Scarano; M Della Monica; R Rizzo; Leopoldo Zelante; M Stabile; O Gabrielli; Giovanni Neri
The Williams syndrome: an Italian collaborative study.
Minerva pediatrica 1996;48(10):421-8.
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: Lucia Perroni; M Grasso; A Argusti; C Lo Nigro; G F Croci; Leopoldo Zelante; G P Garani; Franca Dagna Bricarelli
Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: a study of 87 families.
American journal of medical genetics 1996;64(1):176-80.
1996: Anna Savoia; Marta Centra; L Ianzano; G Pio de Cillis; Manuel Buchwald; Leopoldo Zelante
Molecular characterization of Fanconi anaemia group C (FAC) gene polymorphisms.
Molecular and cellular probes 1996;10(3):213-8.
1996: P Amati; Paolo Gasparini; J Zlotogora; Leopoldo Zelante; Jean-Claude Chomel; Alain Kitzis; J Kaplan; Dominique Bonneau
A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23.
American journal of human genetics 1996;58(5):1089-92.
1996: Paolo Gasparini; L D'Agruma; G Pio de Cillis; P Balestrazzi; R Mingarelli; Leopoldo Zelante
Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms.
Human genetics 1996;97(4):492-5.
1996: Anna Savoia; L Ianzano; C Lunardi; G De Sandre; M Carotenuto; P Musto; Leopoldo Zelante
Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients.
Human genetics 1996;97(1):45-8.
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: 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: Anna Savoia; Marta Centra; L Ianzano; G P de Cillis; Leopoldo Zelante; Manuel Buchwald
Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene.
Human molecular genetics 1995;4(8):1321-6.
1995: M J Calonge; marga nadal; S Calvano; Xavier Testar; Leopoldo Zelante; Antonio Zorzano; Xavier Estivill; Paolo Gasparini; Manuel Palacín; Virginia Nunes
Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization.
Human genetics 1995;95(6):633-6.
1995: A Grifa; Maria Rosaria Piemontese; Salvatore Melchionda; P Origone; Leopoldo Zelante; D Coviello; G Fratta; B Dallapiccola; P Balestrazzi; Franco Ajmar
Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.
Clinical genetics 1995;47(6):281-4.
1995: Angela Totaro; A Grifa; Antonella Roetto; C Lunardi; L D'Agruma; Luca Sbaiz; Leopoldo Zelante; G De Sandre; Clara Camaschella; Paolo Gasparini
New polymorphisms and markers in the HLA class I region: relevance to hereditary hemochromatosis (HFE).
Human genetics 1995;95(4):429-34.
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: Angela Totaro; A Grifa; Antonella Roetto; Leopoldo Zelante; Clara Camaschella; Paolo Gasparini
A new complex polymorphic repeat close to the HLA-A and HLA-E loci.
Human genetics 1994;94(5):578.
1994: Leopoldo Zelante; S Calvano; B Dallapiccola; R Mingarelli; R Antonacci; L Chiovato; M Rocchi
Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids.
Clinical genetics 1994;46(5):368-71.
1994: M J Calonge; Paolo Gasparini; J Chillarón; M Chillón; M Gallucci; F Rousaud; Leopoldo Zelante; Xavier Testar; B Dallapiccola; F Di Silverio
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.
Nature genetics 1994;6(4):420-5.
1994: Leopoldo Zelante; A Notarangelo; A I Croce; Maria Rosaria Piemontese; Paolo Gasparini
Cytogenetic and molecular analysis of trisomy 9. Case report and review.
Annales de génétique 1994;37(1):21-5.
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; Alberto Bonizzato; Angela Totaro; Leopoldo Zelante
Identification of a new DNA polymorphism tightly linked to DQ-alpha locus.
Experimental and clinical immunogenetics 1993;10(3):176-8.
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.
1989: Giovanni Sorge; F Di Forti; G Scarano; Valerio Ventruto; Leopoldo Zelante; B Dallapiccola
CFC syndrome: report on three additional cases.
American journal of medical genetics 1989;33(4):476-8.
1986: B Dallapiccola; V De Filippis; A Notarangelo; Gianni Perla; Leopoldo Zelante
Ring chromosome 21 in healthy persons: different consequences in females and in males.
Human genetics 1986;73(3):218-20.