FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Pier Franco Pignatti

Research Profile

Geographic Areas

Italy

Physiology

Chemicals & Drugs

Disorders

Procedures

Polymerase Chain Reaction

Concepts & Ideas

Genes & Molecular Sequences

Co-author Network

Publications

TOP 3
Paola Prandini; Emiliangelo Ratti; Elisabetta Trabetti; Luciano Xumerle; Chiara Zusi; Lucio Da Ros; Giovanni Malerba; Andrea Marostica; Pierandrea Muglia; Alessandra Pasquali; Pier Franco Pignatti
The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families.
Vladan Mijatovic; Antonio Mori; Pier Franco Pignatti; Marco Sazzini; Luciano Xumerle; Ilaria Iacobucci; Giovanni Martinelli; Giovanni Malerba
Imputation reliability on DNA biallelic markers for drug metabolism studies.
Nicola Martinelli; Roberta Micaglio; Oliviero Olivieri; Pier Franco Pignatti; Francesca Pizzolo; Elisabetta Trabetti; Letizia Consoli; Roberto Corrocher; Simonetta Friso; Elisa Grison; Pasquale Guarini; Domenico Girelli
Low levels of serum paraoxonase activities are characteristic of metabolic syndrome and may influence the metabolic-syndrome-related risk of coronary artery disease.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Pier Franco Pignatti (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2012: Paola Prandini; Emiliangelo Ratti; Elisabetta Trabetti; Luciano Xumerle; Chiara Zusi; Lucio Da Ros; Giovanni Malerba; Andrea Marostica; Pierandrea Muglia; Alessandra Pasquali; Pier Franco Pignatti
The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families.
Psychiatric genetics 2012;22(4):177-81.
2012: Vladan Mijatovic; Antonio Mori; Pier Franco Pignatti; Marco Sazzini; Luciano Xumerle; Ilaria Iacobucci; Giovanni Martinelli; Giovanni Malerba
Imputation reliability on DNA biallelic markers for drug metabolism studies.
BMC bioinformatics 2012;13 Suppl 14():S7.
2012: Nicola Martinelli; Roberta Micaglio; Oliviero Olivieri; Pier Franco Pignatti; Francesca Pizzolo; Elisabetta Trabetti; Letizia Consoli; Roberto Corrocher; Simonetta Friso; Elisa Grison; Pasquale Guarini; Domenico Girelli
Low levels of serum paraoxonase activities are characteristic of metabolic syndrome and may influence the metabolic-syndrome-related risk of coronary artery disease.
Experimental diabetes research 2012;2012():231502.
2011: Francesca Belpinati; Attilio Loris Boner; R Galavotti; Giovanni Malerba; Lydia Pescollderungg; Elisabetta Trabetti; Luciano Xumerle; Pier Franco Pignatti
Association of childhood allergic asthma with markers flanking the IL33 gene in Italian families.
The Journal of allergy and clinical immunology 2011;128(3):667-8.
2011: Dominick J Angiolillo; Theodore A Bass; Esther Bernardo; Davide Capodanno; Piera Capranzano; Antonio Fernandez-Ortiz; Jose L Ferreiro; Pilar Jimenez-Quevedo; Giovanni Malerba; Alessandra Pasquali; Pier Franco Pignatti; Paola Prandini; Manel Sabaté; Elisabetta Trabetti; Masafumi Ueno; David Vivas; Martina Zanoni; Carlos Macaya
Impact of insulin receptor substrate-1 genotypes on platelet reactivity and cardiovascular outcomes in patients with type 2 diabetes mellitus and coronary artery disease.
Journal of the American College of Cardiology 2011;58(1):30-9.
2011: Sara Bonetti; Maddalena Trombetta; Maria Linda Boselli; Fabiola Turrini; Giovanni Malerba; Elisabetta Trabetti; Pier Franco Pignatti; Enzo Bonora; Riccardo C Bonadonna
Variants of GCKR affect both β-cell and kidney function in patients with newly diagnosed type 2 diabetes: the Verona newly diagnosed type 2 diabetes study 2.
Diabetes care 2011;34(5):1205-10.
2011: Silvia Costantini; Paola Prandini; Massimiliano Corradi; Alessandra Pasquali; G Contreas; Pier Franco Pignatti; Leonardo Pinelli; Elisabetta Trabetti; Claudio Maffeis
A novel synonymous substitution in the GCK gene causes aberrant splicing in an Italian patient with GCK-MODY phenotype.
Diabetes research and clinical practice 2011;92(1):e23-6.
2011: S Ferronato; M G Lira; S Olivato; Alberto Scuro; Gian Franco Veraldi; M G Romanelli; Cristina Patuzzo; Giovanni Malerba; Pier Franco Pignatti; Sara Mazzucco
Upregulated expression of Toll-like receptor 4 in peripheral blood of ischaemic stroke patients correlates with cyclooxygenase 2 expression.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery 2011;41(3):358-63.
2011: Bianca Maria Ciminelli; Cristina Bombieri; Cinzia Ciccacci; Francesca Belpinati; Fiorenza Pompei; Roberta Maselli; Jacques Simporé; Pier Franco Pignatti; Guido Modiano
Anthropological features of the CFTR gene: Its variability in an African population.
Annals of human biology 2011;38(2):203-9.
2011: S Bonetti; M Trombetta; Giovanni Malerba; L Boselli; Elisabetta Trabetti; Michele Muggeo; V Stoico; C Negri; Pier Franco Pignatti; Enzo Bonora; Riccardo C Bonadonna
Variants and haplotypes of TCF7L2 are associated with β-cell function in patients with newly diagnosed type 2 diabetes: the Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 1.
The Journal of clinical endocrinology and metabolism 2011;96(2):E389-93.
2010: Nicola Martinelli; Domenico Girelli; Barbara Lunghi; Mirko Pinotti; Giovanna Marchetti; Giovanni Malerba; Pier Franco Pignatti; Roberto Corrocher; Oliviero Olivieri; Francesco Bernardi
Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile.
Blood 2010;116(25):5688-97.
2010: Emmanuelle Bouzigon; Paola Forabosco; Gerard H Koppelman; William O C M Cookson; Marie-Hélène Dizier; David L Duffy; David M Evans; Manuel A R Ferreira; Juha Kere; Tarja Laitinen; Giovanni Malerba; Deborah A Meyers; Miriam Moffatt; Nicholas G Martin; Mandy Y Ng; Pier Franco Pignatti; Mathias Wjst; Francine Kauffmann; Florence Demenais; Cathryn M Lewis
Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy.
European journal of human genetics : EJHG 2010;18(6):700-6.
2010: Alessandra Pasquali; Elisabetta Trabetti; Maria Grazia Romanelli; R Galavotti; Nicola Martinelli; Domenico Girelli; Giovanni Gambaro; Oliviero Olivieri; Pier Franco Pignatti
Detection of a large deletion in the P-selectin (SELP) gene.
Molecular and cellular probes 2010;24(3):161-5.
2010: Carlo Castellani; Milan Macek Jr.; Jean-Jacques Cassiman; Alistair Duff; John Massie; Leo P ten Kate; David Barton; Garry R Cutting; Bruno Dallapiccola; Elisabeth Dequeker; Emmanuelle Girodon; Wayne Grody; Edward W Highsmith; Helenal Kääriäinen; Stephan Kruip; Michael Morris; Pier Franco Pignatti; Ulrike Pypops; Martin Schwarz; Maria Soller; Manfred Stuhrman; Harry Cuppens
Benchmarks for cystic fibrosis carrier screening: a European consensus document.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2010;9(3):165-78.
2010: Roberto De Marco; Simone Accordini; L Antonicelli; V Bellia; M D Bettin; Cristina Bombieri; F Bonifazi; Massimiliano Bugiani; Aurelia Carosso; Lucio Casali; Lucia Cazzoletti; Isa Cerveri; Angelo Corsico; Marcello Ferrari; A G Fois; Vincenzo Lo Cascio; Alessandro Marcon; Alessandra Marinoni; Mario Olivieri; Luigi Perbellini; Pier Franco Pignatti; Pietro Pirina; Albino Poli; Giovanni Rolla; Elisabetta Trabetti; Giuseppe Verlato; Simona Villani; M Elisabetta Zanolin
The Gene-Environment Interactions in Respiratory Diseases (GEIRD) Project.
International archives of allergy and immunology 2010;152(3):255-63.
2010: Vittoria Rizzello; Giovanna Liuzzo; Elisabetta Trabetti; Giovanna Di Giannuario; Salvatore Brugaletta; matteo santamaria; Maddalena Piro; Alessandro Boccanelli; Pier Franco Pignatti; Luigi M Biasucci; Filippo Crea
Role of the CD14 C(-260)T promoter polymorphism in determining the first clinical manifestation of coronary artery disease.
Journal of cardiovascular medicine (Hagerstown, Md.) 2010;11(1):20-5.
2009: Alessandro Perina; Marco Cristani; Luciano Xumerle; Vittorio Murino; Pier Franco Pignatti; Giovanni Malerba
Fully non-homogeneous hidden Markov model double net: a generative model for haplotype reconstruction and block discovery.
Artificial intelligence in medicine 2009;45(2-3):135-50.
2009: Nicola Martinelli; Oliviero Olivieri; Gong-Qing Shen; Elisabetta Trabetti; Francesca Pizzolo; Fabiana Busti; Simonetta Friso; Antonella Bassi; Lin Li; Ying Hu; Pier Franco Pignatti; Roberto Corrocher; Qing Kenneth Wang; Domenico Girelli
Additive effect of LRP8/APOER2 R952Q variant to APOE epsilon2/epsilon3/epsilon4 genotype in modulating apolipoprotein E concentration and the risk of myocardial infarction: a case-control study.
BMC medical genetics 2009;10():41.
2009: stefano cagnin; Michele Biscuola; Cristina Patuzzo; Elisabetta Trabetti; Alessandra Pasquali; Paolo Laveder; Giuseppe Faggian; Mauro Iafrancesco; Alessandro Mazzucco; Pier Franco Pignatti; Gerolamo Lanfranchi
Reconstruction and functional analysis of altered molecular pathways in human atherosclerotic arteries.
BMC genomics 2009;10():13.
2008: Nicola Martinelli; Domenico Girelli; Giovanni Malerba; Pasquale Guarini; Thomas Illig; Elisabetta Trabetti; Marco Sandri; Simonetta Friso; Francesca Pizzolo; Linda Schaeffer; Joachim Heinrich; Pier Franco Pignatti; Roberto Corrocher; Oliviero Olivieri
FADS genotypes and desaturase activity estimated by the ratio of arachidonic acid to linoleic acid are associated with inflammation and coronary artery disease.
The American journal of clinical nutrition 2008;88(4):941-9.
2008: Giovanni Malerba; Linda Schaeffer; Luciano Xumerle; Norman Klopp; Elisabetta Trabetti; Michele Biscuola; Ugo Cavallari; R Galavotti; Nicola Martinelli; Patrizia Guarini; Domenico Girelli; Oliviero Olivieri; Roberto Corrocher; Joachim Heinrich; Pier Franco Pignatti; Thomas Illig
SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular disease.
Lipids 2008;43(4):289-99.
2008: Nicola Martinelli; Elisabetta Trabetti; Mirko Pinotti; Oliviero Olivieri; Marco Sandri; Simonetta Friso; Francesca Pizzolo; Claudia Bozzini; Pier Paolo Caruso; Ugo Cavallari; Suzanne Cheng; Pier Franco Pignatti; francesco bernardi; Roberto Corrocher; Domenico Girelli
Combined effect of hemostatic gene polymorphisms and the risk of myocardial infarction in patients with advanced coronary atherosclerosis.
PloS one 2008;3(2):e1523.
2007: Oliviero Olivieri; Nicola Martinelli; Antonella Bassi; Elisabetta Trabetti; Domenico Girelli; Francesca Pizzolo; Simonetta Friso; Pier Franco Pignatti; Roberto Corrocher
ApoE epsilon2/epsilon3/epsilon4 polymorphism, ApoC-III/ApoE ratio and metabolic syndrome.
Clinical and experimental medicine 2007;7(4):164-72.
2007: Macarena Gomez-Lira; L Provezza; C Terranova; Nicola Martinelli; Claudia Bozzini; Pier Franco Pignatti
Two new highly polymorphic markers in the 3' UTR region of the PLA2G7 gene.
International journal of immunogenetics 2007;34(6):465-8.
2007: Vittoria Rizzello; Giovanna Liuzzo; Giovanna Di Giannuario; Elisabetta Trabetti; Salvatore Brugaletta; matteo santamaria; Maddalena Piro; Pier Franco Pignatti; Attilio Maseri; Luigi M Biasucci; Filippo Crea
1059G/C polymorphism within the exon 2 of the C-reactive protein gene: relationship to C-reactive protein levels and prognosis in unstable angina.
Coronary artery disease 2007;18(7):533-8.
2007: Domenico Girelli; Nicola Martinelli; Elisabetta Trabetti; Oliviero Olivieri; Ugo Cavallari; Giovanni Malerba; Fabiana Busti; Simonetta Friso; Francesca Pizzolo; Pier Franco Pignatti; Roberto Corrocher
ALOX5AP gene variants and risk of coronary artery disease: an angiography-based study.
European journal of human genetics : EJHG 2007;15(9):959-66.
2007: S Mazzola; M Gomez Lira; MD Benedetti; Alessandro Salviati; S Ottaviani; Giovanni Malerba; M Ortombina; Pier Franco Pignatti
COX-2 promoter region polymorphisms in multiple sclerosis: lack of association of -765G>C with disease risk.
International journal of immunogenetics 2007;34(2):71-4.
2007: Nicola Martinelli; Elisabetta Trabetti; Antonella Bassi; Domenico Girelli; Simonetta Friso; Francesca Pizzolo; Marco Sandri; Giovanni Malerba; Pier Franco Pignatti; Roberto Corrocher; Oliviero Olivieri
The -1131 T>C and S19W APOA5 gene polymorphisms are associated with high levels of triglycerides and apolipoprotein C-III, but not with coronary artery disease: an angiographic study.
Atherosclerosis 2007;191(2):409-17.
2007: Guido Modiano; Bianca Maria Ciminelli; Pier Franco Pignatti
Cystic fibrosis and lactase persistence: a possible correlation.
European journal of human genetics : EJHG 2007;15(3):255-9.
2007: Ilaria Campo; Patrizia Morbini; Michele Zorzetto; Carmine Tinelli; Enrico Brunetta; Chiara Villa; Cristina Bombieri; Mariaclara Cuccia; Carlo Agostini; Valeria Bozzi; Angelica Facoetti; Ilaria Ferrarotti; Paola Mazzola; Roberta Scabini; Gianpietro Semenzato; Pier Franco Pignatti; Ernesto Pozzi; Maurizio Luisetti
Expression of receptor for advanced glycation end products in sarcoid granulomas.
American journal of respiratory and critical care medicine 2007;175(5):498-506.
2007: Ugo Cavallari; Elisabetta Trabetti; Giovanni Malerba; Michele Biscuola; Domenico Girelli; Oliviero Olivieri; Nicola Martinelli; Dominick J Angiolillo; Roberto Corrocher; Pier Franco Pignatti
Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease.
BMC medical genetics 2007;8():59.
2007: Marco Salvatore; Vincenzo Falbo; Giovanna Floridia; Federica Censi; Fabrizio Tosto; Cristina Bombieri; Giuseppe Castaldo; Pier Franco Pignatti; Maria Cristina Rosatelli; Domenica Taruscio
The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2007;45(2):254-60.
2007: Giovanni Malerba; C M Lindgren; L Xumerle; P Kiviluoma; Elisabetta Trabetti; T Laitinen; R Galavotti; Lydia Pescollderungg; Attilio L Boner; J Kere; Pier Franco Pignatti
Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthma.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2007;37(1):83-9.
2007: Bianca Maria Ciminelli; Alberto Bonizzato; Cristina Bombieri; Fiorenza Pompei; M Gabaldo; Cinzia Ciccacci; Angela Begnini; A Holubova; P Zorzi; T Piskackova; Milan Macek Jr.; Carlo Castellani; Guido Modiano; Pier Franco Pignatti
Highly preferential association of NonF508del CF mutations with the M470 allele.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2007;6(1):15-22.
2006: Esther Bernardo; Dominick J Angiolillo; Celia Ramírez; Ugo Cavallari; Elisabetta Trabetti; Manel Sabaté; Rosana Hernández; Raúl Moreno; Javier Escaned; Fernando Alfonso; Camino Bañuelos; Marco A Costa; Theodore A Bass; Pier Franco Pignatti; Carlos Macaya; Antonio Fernandez-Ortiz
Lack of association between gene sequence variations of platelet membrane receptors and aspirin responsiveness detected by the PFA-100 system in patients with coronary artery disease.
Platelets 2006;17(8):586-90.
2006: Esther Bernardo; Dominick J Angiolillo; Celia Ramírez; Ugo Cavallari; Elisabetta Trabetti; Manel Sabaté; Rosana Hernández; Raúl Moreno; Javier Escaned; Fernando Alfonso; Camino Bañuelos; Marco A Costa; Theodore A Bass; Pier Franco Pignatti; Carlos Macaya; Antonio Fernandez-Ortiz
Influence of the CD14 C260T promoter polymorphism on C-reactive protein levels in patients with coronary artery disease.
The American journal of cardiology 2006;98(9):1182-4.
2006: Dominick J Angiolillo; Antonio Fernandez-Ortiz; Esther Bernardo; Celia Ramírez; Ugo Cavallari; Elisabetta Trabetti; Manel Sabaté; Rosana Hernández; Raúl Moreno; Javier Escaned; Fernando Alfonso; Camino Bañuelos; Marco A Costa; Theodore A Bass; Pier Franco Pignatti; Carlos Macaya
Contribution of gene sequence variations of the hepatic cytochrome P450 3A4 enzyme to variability in individual responsiveness to clopidogrel.
Arteriosclerosis, thrombosis, and vascular biology 2006;26(8):1895-900.
2006: Claude Férec; Teresa Casals; Nadia Chuzhanova; Milan Macek Jr.; Thierry Bienvenu; Andrea Holubova; Caitriona King; Trudi McDevitt; Carlo Castellani; Philip M Farrell; Molly Sheridan; Sarah-Jane Pantaleo; Ourida Loumi; Taieb Messaoud; Harry Cuppens; Francesca Torricelli; Garry R Cutting; Robert Williamson; Maria Jesus Alonso Ramos; Pier Franco Pignatti; Odile Raguénès; David N Cooper; Marie-Pierre Audrézet; Jian-Min Chen
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
European journal of human genetics : EJHG 2006;14(5):567-76.
2006: Domenico Girelli; Nicola Martinelli; Oliviero Olivieri; Francesca Pizzolo; Simonetta Friso; Giovanni Faccini; Claudia Bozzini; Ilaria Tenuti; Valentina Lotto; Giuliano Villa; Pasquale Guarini; Elisabetta Trabetti; Pier Franco Pignatti; Alessandro Mazzucco; Roberto Corrocher
Hyperhomocysteinemia and mortality after coronary artery bypass grafting.
PloS one 2006;1():e83.
2006: Fiorenza Pompei; Bianca Maria Ciminelli; Cristina Bombieri; Cinzia Ciccacci; Monika Koudova; Silvia Giorgi; Francesca Belpinati; Angela Begnini; Milos Cerny; Marie Des Georges; Mireille Claustres; Claude Ferec; Milan Macek Jr.; Guido Modiano; Pier Franco Pignatti
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.
European journal of human genetics : EJHG 2006;14(1):85-93.
2006: Elisabetta Trabetti; Michele Biscuola; Ugo Cavallari; Giovanni Malerba; Domenico Girelli; Oliviero Olivieri; Nicola Martinelli; Roberto Corrocher; Pier Franco Pignatti
On the association of the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction or coronary artery disease.
European journal of human genetics : EJHG 2006;14(1):127-30.
2005: Dominick J Angiolillo; Antonio Fernandez-Ortiz; Esther Bernardo; Celia Ramírez; Ugo Cavallari; Elisabetta Trabetti; Manel Sabaté; Pilar Jimenez-Quevedo; Rosana Hernández; Raúl Moreno; Javier Escaned; Fernando Alfonso; Camino Bañuelos; Marco A Costa; Theodore A Bass; Pier Franco Pignatti; Carlos Macaya
Variability in platelet aggregation following sustained aspirin and clopidogrel treatment in patients with coronary heart disease and influence of the 807 C/T polymorphism of the glycoprotein Ia gene.
The American journal of cardiology 2005;96(8):1095-9.
2005: Nicola Martinelli; Domenico Girelli; Oliviero Olivieri; Ugo Cavallari; Michele Biscuola; Elisabetta Trabetti; Simonetta Friso; Francesca Pizzolo; Ilaria Tenuti; Claudia Bozzini; Giuliano Villa; B Ceradini; Marco Sandri; Suzanne Cheng; Michael A Grow; Pier Franco Pignatti; Roberto Corrocher
Interaction between metabolic syndrome and PON1 polymorphisms as a determinant of the risk of coronary artery disease.
Clinical and experimental medicine 2005;5(1):20-30.
2005: Anne Vankeerberghen; Olga Scudiero; Kris De Boeck; Milan Macek Jr.; Pier Franco Pignatti; Noémi Van Hul; Hilde Nuytten; Francesco Salvatore; Giuseppe Castaldo; Daniela Zemkova; Vera Vavrova; Jean-Jacques Cassiman; Harry Cuppens
Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations.
Genomics 2005;85(5):574-81.
2005: Cristina Bombieri; Alberto Bonizzato; Carlo Castellani; Baroukh M Assael; Pier Franco Pignatti
Frequency of large CFTR gene rearrangements in Italian CF patients.
European journal of human genetics : EJHG 2005;13(5):687-9.
2005: Simonetta Friso; Domenico Girelli; Elisabetta Trabetti; Oliviero Olivieri; Pasquale Guarini; Pier Franco Pignatti; Roberto Corrocher; Sang-Woon Choi
The MTHFR 1298A>C polymorphism and genomic DNA methylation in human lymphocytes.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005;14(4):938-43.
2005: Oliviero Olivieri; Nicola Martinelli; Marco Sandri; Antonella Bassi; Pasquale Guarini; Elisabetta Trabetti; Francesca Pizzolo; Domenico Girelli; Simonetta Friso; Pier Franco Pignatti; Roberto Corrocher
Apolipoprotein C-III, n-3 polyunsaturated fatty acids, and "insulin-resistant" T-455C APOC3 gene polymorphism in heart disease patients: example of gene-diet interaction.
Clinical chemistry 2005;51(2):360-7.
2005: Guido Modiano; Cristina Bombieri; Bianca Maria Ciminelli; Francesca Belpinati; Silvia Giorgi; Marie des Georges; Virginie Scotet; Fiorenza Pompei; Cinzia Ciccacci; Caroline Guittard; Marie-Pierre Audrézet; Angela Begnini; Michael Toepfer; Milan Macek Jr.; Claude Ferec; Mireille Claustres; Pier Franco Pignatti
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.
European journal of human genetics : EJHG 2005;13(2):184-92.
2005: Dominick J Angiolillo; Antonio Fernandez-Ortiz; Esther Bernardo; Celia Ramírez; Ugo Cavallari; Elisabetta Trabetti; Manel Sabaté; Pilar Jimenez-Quevedo; Rosana Hernández; Raúl Moreno; Javier Escaned; Fernando Alfonso; Camino Bañuelos; Marco A Costa; Theodore A Bass; Pier Franco Pignatti; Carlos Macaya
Lack of association between the P2Y12 receptor gene polymorphism and platelet response to clopidogrel in patients with coronary artery disease.
Thrombosis research 2005;116(6):491-7.
2005: Giovanni Malerba; Pier Franco Pignatti
A review of asthma genetics: gene expression studies and recent candidates.
Journal of applied genetics 2005;46(1):93-104.
2004: Dominick J Angiolillo; Antonio Fernandez-Ortiz; Esther Bernardo; Celia Ramírez; Javier Escaned; Raúl Moreno; Rosana Hernández-Antolin; Manel Sabaté; Elisabetta Trabetti; Pier Franco Pignatti; Carlos Macaya
807 C/T Polymorphism of the glycoprotein Ia gene and pharmacogenetic modulation of platelet response to dual antiplatelet treatment.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2004;15(5):427-33.
2004: Henning Gohlke; Thomas Illig; Margret Bahnweg; Norman Klopp; Elisabeth André; Janine Altmüller; Nicole Herbon; Monika Werner; Michael Knapp; Lydia Pescollderungg; Attilio L Boner; Giovanni Malerba; Pier Franco Pignatti; Matthias Wjst
Association of the interleukin-1 receptor antagonist gene with asthma.
American journal of respiratory and critical care medicine 2004;169(11):1217-23.
2004: Pier Franco Pignatti
Trends in pharmacogenomics of drugs used in the treatment of asthma.
Pharmacological research : the official journal of the Italian Pharmacological Society 2004;49(4):343-9.
2004: Pier Franco Pignatti
Molecular biomedicine and the unraveling of complex phenotypes.
Journal of applied genetics 2004;45(4):395-7.
2004: Domenica Taruscio; Vincenzo Falbo; Giovanna Floridia; Marco Salvatore; Chiara Pescucci; Alfredo Cantafora; Cesarina Marongiu; Anna Baroncini; Elisa Calzolari; Antonio Cao; Giuseppe Castaldo; Franca Dagna Bricarelli; Ginevra Guanti; Lucio Nitsch; Pier Franco Pignatti; Cristina Rosatelli; Francesco Salvatore; Orsetta Zuffardi
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2004;42(8):915-21.
2004: Dominick J Angiolillo; Antonio Fernandez-Ortiz; Esther Bernardo; Fernando Alfonso; Manel Sabaté; Cristina Fernández; Chiara Stranieri; Elisabetta Trabetti; Pier Franco Pignatti; Carlos Macaya
PlA polymorphism and platelet reactivity following clopidogrel loading dose in patients undergoing coronary stent implantation.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2004;15(1):89-93.
2004: Nicola Martinelli; Domenico Girelli; Oliviero Olivieri; Chiara Stranieri; Elisabetta Trabetti; Francesca Pizzolo; Simonetta Friso; Ilaria Tenuti; Suzanne Cheng; Michael A Grow; Pier Franco Pignatti; Roberto Corrocher
Interaction between smoking and PON2 Ser311Cys polymorphism as a determinant of the risk of myocardial infarction.
European journal of clinical investigation 2004;34(1):14-20.
2004: Joshua D Groman; Timothy W Hefferon; Teresa Casals; Lluís Bassas; Xavier Estivill; Marie Des Georges; Caroline Guittard; Monika Koudova; MARGARET D FALLIN; Krisztina Nemeth; Gyorgy Fekete; Ludovit Kadasi; Kenneth Friedman; Martin Schwarz; Cristina Bombieri; Pier Franco Pignatti; Emmanuel Kanavakis; Maria Tzetis; Marianne Schwartz; Giuseppe Novelli; Maria Rosaria D'Apice; Agnieszka Sobczynska-Tomaszewska; Jerzy Bal; Manfred Stuhrmann; Milan Macek Jr.; Mireille Claustres; Garry R Cutting
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
American journal of human genetics 2004;74(1):176-9.
2003: Oliviero Olivieri; Antonella Bassi; Chiara Stranieri; Elisabetta Trabetti; Nicola Martinelli; Francesca Pizzolo; Domenico Girelli; Simonetta Friso; Pier Franco Pignatti; Roberto Corrocher
Apolipoprotein C-III, metabolic syndrome, and risk of coronary artery disease.
Journal of lipid research 2003;44(12):2374-81.
2003: C Migliaccio; Cristina Patuzzo; Giovanni Malerba; Elisabetta Trabetti; R Galavotti; L Pescollderung; Attilio L Boner; Pier Franco Pignatti
No linkage or association of five polymorphisms in the interleukin-4 receptor alpha gene with atopic asthma in Italian families.
European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics 2003;30(5):349-53.
2003: Cristina Bombieri; Francesca Belpinati; Pier Franco Pignatti; Maurizio Luisetti
Comment on 'CFTR gene mutations in sarcoidosis'.
European journal of human genetics : EJHG 2003;11(8):553-4.
2003: Macarena Gomez-Lira; Maria Liguori; Corrado Magnani; Deborah Bonamini; Alessandro Salviati; Maurizio Leone; Virginia Andreoli; Maria Trojano; Paola Valentino; Giovanni Savettieri; Aldo Quattrone; Pier Franco Pignatti; Patricia Momigliano-Richiardi; Mara Giordano
CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers.
Journal of neuroimmunology 2003;140(1-2):216-21.
2003: Macarena Gomez-Lira; Deborah Bonamini; Carlo Castellani; Lorenza Unis; Giorgio Cavallini; Baroukh M Assael; Pier Franco Pignatti
Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.
European journal of human genetics : EJHG 2003;11(7):543-6.
2003: Domenico Girelli; Nicola Martinelli; Francesca Pizzolo; Simonetta Friso; Oliviero Olivieri; Chiara Stranieri; Elisabetta Trabetti; Giovanni Faccini; Elisa Tinazzi; Pier Franco Pignatti; Roberto Corrocher
The interaction between MTHFR 677 C-->T genotype and folate status is a determinant of coronary atherosclerosis risk.
The Journal of nutrition 2003;133(5):1281-5.
2003: Maurizio Luisetti; Pier Franco Pignatti
Genetics of idiopathic disseminated bronchiectasis.
Seminars in respiratory and critical care medicine 2003;24(2):179-84.
2003: Ilaria Ferrarotti; Michele Zorzetto; Massimiliano Beccaria; Lucia Sonia Gilè; R Porta; Nicolino Ambrosino; Pier Franco Pignatti; Isa Cerveri; Ernesto Pozzi; Maurizio Luisetti
Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema.
The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology 2003;21(3):444-9.
2003: Cristina Patuzzo; Carlo Castellani; Carlo Sagramoso; Macarena Gomez-Lira; Deborah Bonamini; Francesca Belpinati; Maria Cristina Dechecchi; Baroukh M Assael; Pier Franco Pignatti
Cationic trypsinogen and pancreatic secretory trypsin inhibitor gene mutations in neonatal hypertrypsinaemia.
European journal of human genetics : EJHG 2003;11(1):93-6.
2002: Macarena Gomez-Lira; Giuseppe Moretto; Deborah Bonamini; MD Benedetti; Pier Franco Pignatti; Nicolò Rizzuto; Alessandro Salviati
Myelin oligodendrocyte glycoprotein polymorphisms and multiple sclerosis.
Journal of neuroimmunology 2002;133(1-2):241-3.
2002: Oliviero Olivieri; Chiara Stranieri; Antonella Bassi; Barbara Zaia; Domenico Girelli; Francesca Pizzolo; Elisabetta Trabetti; Suzanne Cheng; Michael A Grow; Pier Franco Pignatti; Roberto Corrocher
ApoC-III gene polymorphisms and risk of coronary artery disease.
Journal of lipid research 2002;43(9):1450-7.
2002: Michele Zorzetto; Cristina Bombieri; Ilaria Ferrarotti; Sara Medaglia; Carlo Agostini; Carmine Tinelli; Giovanni Malerba; Natalia Carrabino; Anna Beretta; Lucio Casali; Ernesto Pozzi; Pier Franco Pignatti; Gianpietro Semenzato; Mariaclara Cuccia; Maurizio Luisetti
Complement receptor 1 gene polymorphisms in sarcoidosis.
American journal of respiratory cell and molecular biology 2002;27(1):17-23.
2002: Simonetta Friso; Domenico Girelli; Elisabetta Trabetti; Chiara Stranieri; Oliviero Olivieri; Elisa Tinazzi; Nicola Martinelli; Giovanni Faccini; Pier Franco Pignatti; Roberto Corrocher
A1298C methylenetetrahydrofolate reductase mutation and coronary artery disease: relationships with C677T polymorphism and homocysteine/folate metabolism.
Clinical and experimental medicine 2002;2(1):7-12.
2002: Claudia Bozzini; Domenico Girelli; Elisa Tinazzi; Oliviero Olivieri; Chiara Stranieri; Antonella Bassi; Elisabetta Trabetti; Giovanni Faccini; Pier Franco Pignatti; Roberto Corrocher
Biochemical and genetic markers of iron status and the risk of coronary artery disease: an angiography-based study.
Clinical chemistry 2002;48(4):622-8.
2002: Oliviero Olivieri; Silvia Grazioli; Francesca Pizzolo; Chiara Stranieri; Elisabetta Trabetti; Federico Beltrame; Domenico Girelli; Pier Franco Pignatti; Roberto Corrocher
Different impact of deletion polymorphism of gene on the risk of renal and coronary artery disease.
Journal of hypertension 2002;20(1):37-43.
2001: Oliviero Olivieri; Simonetta Friso; Elisabetta Trabetti; Domenico Girelli; Francesca Pizzolo; Giovanni Faccini; Chiara Stranieri; Pier Franco Pignatti; Roberto Corrocher
Homocysteine and atheromatous renal artery stenosis.
Clinical and experimental medicine 2001;1(4):211-8.
2001: S Venanzi; Giovanni Malerba; R Galavotti; MC Lauciello; Elisabetta Trabetti; Giovanna Zanoni; Lydia Pescollderungg; LC Martinati; Attilio L Boner; Pier Franco Pignatti
Linkage to atopy on chromosome 19 in north-eastern Italian families with allergic asthma.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2001;31(8):1220-4.
2001: C Quinzii; Francesca Belpinati; Pier Franco Pignatti
Predictive genetic testing -- new possibilities in determination of risk of complex diseases.
Croatian medical journal 2001;42(4):458-62.
2001: Oliviero Olivieri; Chiara Stranieri; Domenico Girelli; Francesca Pizzolo; Silvia Grazioli; C Russo; Pier Franco Pignatti; Roberto Corrocher
Homozygosity for angiotensinogen 235T variant increases the risk of myocardial infarction in patients with multi-vessel coronary artery disease.
Journal of hypertension 2001;19(5):879-84.
2001: Giovanni Malerba; Cristina Patuzzo; Elisabetta Trabetti; MC Lauciello; R Galavotti; Lydia Pescollderungg; M B Whalen; Giovanna Zanoni; LC Martinati; Attilio L Boner; Pier Franco Pignatti
Chromosome 14 linkage analysis and mutation study of 2 serpin genes in allergic asthmatic families.
The Journal of allergy and clinical immunology 2001;107(4):654-8.
2001: Macarena Gomez-Lira; Monica Mottes; C Perusi; Pier Franco Pignatti; Nicolò Rizzuto; R Gatti; Alessandro Salviati
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease.
Molecular and cellular probes 2001;15(2):75-9.
2001: Macarena Gomez-Lira; Cristina Patuzzo; Carlo Castellani; Paolo Bovo; Giorgio Cavallini; G Mastella; Pier Franco Pignatti
CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemia.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2001;1(5):538-42.
2001: Cristina Bombieri; Pier Franco Pignatti
Cystic fibrosis mutation testing in Italy.
Genetic testing 2001;5(3):229-33.
2000: S Mirandola; Pier Franco Pignatti; Monica Mottes
Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis Imperfecta.
Molecular and cellular probes 2000;14(6):329-32.
2000: Giovanni Malerba; MC Lauciello; Titia Scherpbier; Elisabetta Trabetti; R Galavotti; V Cusin; Lydia Pescollderungg; Giovanna Zanoni; LC Martinati; Attilio L Boner; Roy Levitt; Pier Franco Pignatti
Linkage analysis of chromosome 12 markers in Italian families with atopic asthmatic children.
American journal of respiratory and critical care medicine 2000;162(4 Pt 1):1587-90.
2000: Cristina Bombieri; Maurizio Luisetti; Francesca Belpinati; E Zuliani; Anna Beretta; J Baccheschi; Lucio Casali; Pier Franco Pignatti
Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study.
European journal of human genetics : EJHG 2000;8(9):717-20.
2000: M Gomez Lira; Monica Mottes; Pier Franco Pignatti; I Medica; G Uziel; M Cappa; E Bertini; Nicolò Rizzuto; Alessandro Salviati
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.
Human mutation 2000;16(3):271.
2000: MG Benetazzo; MG Marzari; Cristina Bombieri; Francesca Belpinati; Carlo Castellani; G C Cavallini; G Mastella; Pier Franco Pignatti
High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia.
American journal of human genetics 2000;66(6):2013-4.
2000: Cristina Patuzzo; Elisabetta Trabetti; Giovanni Malerba; LC Martinati; Attilio L Boner; Lydia Pescollderungg; Giovanna Zanoni; Pier Franco Pignatti
No linkage or association of the IL-4Ralpha gene Q576R mutation with atopic asthma in Italian families.
Journal of medical genetics 2000;37(5):382-4.
2000: Cristina Patuzzo; Lucia Sonia Gilè; Michele Zorzetto; Elisabetta Trabetti; Giovanni Malerba; Pier Franco Pignatti; Maurizio Luisetti
Tumor necrosis factor gene complex in COPD and disseminated bronchiectasis.
Chest 2000;117(5):1353-8.
2000: Monica Mottes; S Mirandola; F Rigatelli; F Zolezzi; V Lisi; D Gordon; Pier Franco Pignatti
Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of italian families with Marfan syndrome.
Human heredity 2000;50(3):175-9.
2000: Cristina Bombieri; Silvia Giorgi; S Carles; Rafael de Cid; Francesca Belpinati; C Tandoi; Nathalie Pallares-Ruiz; Conxi Lazaro; Bianca Maria Ciminelli; Marie-Catherine Romey; Teresa Casals; Fiorenza Pompei; G Gandini; Mireille Claustres; Xavier Estivill; Pier Franco Pignatti; Guido Modiano
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.
Human genetics 2000;106(2):172-8.
1999: Giovanni Malerba; Elisabetta Trabetti; Cristina Patuzzo; MC Lauciello; R Galavotti; Lydia Pescollderungg; Attilio L Boner; Pier Franco Pignatti
Candidate genes and a genome-wide search in Italian families with atopic asthmatic children.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 1999;29 Suppl 4():27-30.
1999: Oliviero Olivieri; Elisabetta Trabetti; Silvia Grazioli; Chiara Stranieri; Simonetta Friso; Domenico Girelli; C Russo; Pier Franco Pignatti; Giancarlo Mansueto; Roberto Corrocher
Genetic polymorphisms of the renin-angiotensin system and atheromatous renal artery stenosis.
Hypertension 1999;34(5):1097-100.
1999: MG Benetazzo; Lucia Sonia Gilè; Cristina Bombieri; Giovanni Malerba; M Massobrio; Pier Franco Pignatti; Maurizio Luisetti
alpha 1-antitrypsin TAQ I polymorphism and alpha 1-antichymotrypsin mutations in patients with obstructive pulmonary disease.
Respiratory medicine 1999;93(9):648-54.
1999: S Mirandola; Pier Franco Pignatti; Monica Mottes
A novel intragenic polymorphism within the COL1A1 locus which can be detected by Taq I restriction of amplified genomic DNA.
Molecular and cellular probes 1999;13(3):243-5.
1999: C Perusi; Macarena Gomez-Lira; Monica Mottes; Pier Franco Pignatti; E Bertini; M Cappa; Maria-Claudia Vigliani; D Schiffer; Nicolò Rizzuto; Alessandro Salviati
Two novel missense mutations causing adrenoleukodystrophy in Italian patients.
Molecular and cellular probes 1999;13(3):179-82.
1999: Macarena Gomez-Lira; C Perusi; Monica Mottes; Pier Franco Pignatti; G Uziel; Nicolò Rizzuto; Alessandro Salviati
Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients.
Journal of the neurological sciences 1999;165(1):62-5.
1999: Elisabetta Trabetti; Cristina Patuzzo; Giovanni Malerba; R Galavotti; LC Martinati; Attilio L Boner; Pier Franco Pignatti
Association of a lymphotoxin alpha gene polymorphism and atopy in Italian families.
Journal of medical genetics 1999;36(4):323-5.
1999: C Perusi; M Gomez Lira; R F Duyff; H C Weinstein; Pier Franco Pignatti; Nicolò Rizzuto; Alessandro Salviati
Mutations associated with very late-onset metachromatic leukodystrophy.
Clinical genetics 1999;55(2):130.
1999: Carlo Castellani; MG Benetazzo; Alberto Bonizzato; Pier Franco Pignatti; G Mastella
Cystic fibrosis mutations in heterozygous newborns with hypertrypsinemia and low sweat chloride.
American journal of human genetics 1999;64(1):303-4.
1998: Maurizio Luisetti; L S Gilé; Cristina Bombieri; MG Benetazzo; Pier Franco Pignatti
Genetics of chronic obstructive pulmonary disease and disseminated bronchiectasis.
Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace / Fondazione clinica del lavoro, IRCCS [and] Istituto di clinica tisiologica e malattie apparato respiratorio, Università di Napoli, Secondo ateneo 1998;53(6):614-6.
1998: Pier Franco Pignatti
The genetics of cystic fibrosis.
Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace / Fondazione clinica del lavoro, IRCCS [and] Istituto di clinica tisiologica e malattie apparato respiratorio, Università di Napoli, Secondo ateneo 1998;53(6):603-5.
1998: Cristina Bombieri; MG Benetazzo; A Saccomani; Francesca Belpinati; Lucia Sonia Gilè; Maurizio Luisetti; Pier Franco Pignatti
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.
Human genetics 1998;103(6):718-22.
1998: Caterina Borgna-Pignatti; A Solinas; Cristina Bombieri; Rocco Micciolo; Maria Rita Gamberini; Piero De Stefano; E De Menis; Pier Franco Pignatti
The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated.
British journal of haematology 1998;103(3):813-6.
1998: Kenneth J Holroyd; LC Martinati; Elisabetta Trabetti; Titia Scherpbier; Scott M Eleff; A L Boner; Pier Franco Pignatti; MB Kiser; Carl Dragwa; F Hubbard; Christine D Sullivan; Luigi Grasso; CJ Messler; Minxue Huang; Ying Hu; Nicholas C Nicolaides; Kenneth H Buetow; Roy Levitt
Asthma and bronchial hyperresponsiveness linked to the XY long arm pseudoautosomal region.
Genomics 1998;52(2):233-5.
1998: Elisabetta Trabetti; V Cusin; Giovanni Malerba; LC Martinati; A Casartelli; Attilio L Boner; Pier Franco Pignatti
Association of the FcepsilonRIbeta gene with bronchial hyper-responsiveness in an Italian population.
Journal of medical genetics 1998;35(8):680-1.
1998: Domenico Girelli; Simonetta Friso; Elisabetta Trabetti; Oliviero Olivieri; C Russo; R Pessotto; Giovanni Faccini; Pier Franco Pignatti; Alessandro Mazzucco; Roberto Corrocher
Methylenetetrahydrofolate reductase C677T mutation, plasma homocysteine, and folate in subjects from northern Italy with or without angiographically documented severe coronary atherosclerotic disease: evidence for an important genetic-environmental interaction.
Blood 1998;91(11):4158-63.
1998: Macarena Gomez-Lira; C Perusi; Monica Mottes; Pier Franco Pignatti; M Manfredi; Nicolò Rizzuto; Alessandro Salviati
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation.
Human genetics 1998;102(4):459-63.
1998: Macarena Gomez-Lira; C Perusi; Monica Mottes; Pier Franco Pignatti; Nicolò Rizzuto; R Gatti; Alessandro Salviati
Splicing mutation causes infantile Sandhoff disease.
American journal of medical genetics 1998;75(3):330-3.
1997: C Perusi; Macarena Gomez-Lira; Monica Mottes; Pier Franco Pignatti; Nicolò Rizzuto; Alessandro Salviati
A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene.
Molecular and cellular probes 1997;11(6):449-51.
1997: F Zolezzi; M Valli; M Clementi; I Mammi; Giuseppe Cetta; Pier Franco Pignatti; Monica Mottes
Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability.
American journal of medical genetics 1997;71(3):366-70.
1997: Alberto Turco; E Bresin; S Rossetti; B Peterlin; R Morandi; Pier Franco Pignatti
Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome.
American journal of kidney diseases : the official journal of the National Kidney Foundation 1997;30(2):174-9.
1997: S Rossetti; S Englisch; E Bresin; Pier Franco Pignatti; Alberto Turco
Detection of mutations in human genes by a new rapid method: cleavage fragment length polymorphism analysis (CFLPA).
Molecular and cellular probes 1997;11(2):155-60.
1997: Alberto Turco; E Bresin; S Rossetti; S Englisch; Pier Franco Pignatti; Linda Gammaro; Giuseppe Maschio; M Bendetti; Maurizio Li Vecchi; A Ferrantelli; Giovanni Cerasola; B Stiasny; Bernd D Schulze
Molecular genetic investigations in autosomal dominant polycystic kidney disease. Gene Mutation detection, linkage analysis, and preliminary ACE gene I/D polymorphism association studies: an update.
Contributions to nephrology 1997;122():53-7.
1997: Alberto Turco; S Rossetti; E Bresin; S Englisch; S Corrà; Pier Franco Pignatti
Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.
Human mutation 1997;10(2):164-7.
1996: E Bresin; S Rossetti; S Englisch; S Corrà; Pier Franco Pignatti; Alberto Turco
A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1).
Molecular and cellular probes 1996;10(6):463-5.
1996: Alberto Turco; M Clementi; S Rossetti; R Tenconi; Pier Franco Pignatti
An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene.
American journal of kidney diseases : the official journal of the National Kidney Foundation 1996;28(5):759-61.
1996: S Rossetti; E Bresin; Gabriella Restagno; A Carbonara; S Corrà; O De Prisco; Pier Franco Pignatti; Alberto Turco
Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene.
American journal of medical genetics 1996;65(2):155-9.
1996: L Cohen-Solal; F Zolezzi; Pier Franco Pignatti; Monica Mottes
Intrafamilial variable expressivity of osteogenesis imperfecta due to mosaicism for a lethal G382R substitution in the COL1A1 gene.
Molecular and cellular probes 1996;10(3):219-25.
1996: Alessandra Renieri; Mirella Bruttini; L Galli; P Zanelli; T Neri; S Rossetti; Alberto Turco; N Heiskari; J Zhou; R Gusmano; L Massella; G Banfi; F Scolari; Adalberto Sessa; Gianfranco Rizzoni; K Tryggvason; Pier Franco Pignatti; M Savi; A Ballabio; Mario De Marchi
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
American journal of human genetics 1996;58(6):1192-204.
1996: LC Martinati; Elisabetta Trabetti; A Casartelli; Attilio L Boner; Pier Franco Pignatti
Affected sib-pair and mutation analyses of the high affinity IgE receptor beta chain locus in Italian families with atopic asthmatic children.
American journal of respiratory and critical care medicine 1996;153(5):1682-5.
1996: giovanni martinelli; Elisabetta Trabetti; P Farabegoli; M Buzzi; Alfonso Zaccaria; Nicoletta Testoni; Marilina Amabile; A Casartelli; Antonio de Vivo; Pier Franco Pignatti; Sante Tura
'Fingerprinting' of HLA-DQA by polymerase chain reaction and heteroduplex analysis.
Molecular and cellular probes 1996;10(2):123-7.
1996: Pier Franco Pignatti; Cristina Bombieri; MG Benetazzo; A Casartelli; Elisabetta Trabetti; Lucia Sonia Gilè; LC Martinati; A L Boner; Maurizio Luisetti
CFTR gene variant IVS8-5T in disseminated bronchiectasis.
American journal of human genetics 1996;58(4):889-892.
1996: Alberto Turco; S Rossetti; E Bresin; S Corrà; Gabriella Restagno; A Carbonara; O De Prisco; L Gammaro; Giuseppe Maschio; Pier Franco Pignatti
Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1996;11 Suppl 6():10-2.
1995: Alberto Turco; S Rossetti; M O Biasi; Gianfranco Rizzoni; L Massella; N H Saarinen; Alessandra Renieri; Pier Franco Pignatti; Mario De Marchi
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.
Clinical genetics 1995;48(5):261-3.
1995: Macarena Gomez-Lira; A Sangalli; Monica Mottes; C Perusi; Pier Franco Pignatti; Nicolò Rizzuto; Alessandro Salviati
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.
Human genetics 1995;96(4):417-22.
1995: Alberto Turco; S Rossetti; E Bresin; S Corra; L Gammaro; Giuseppe Maschio; Pier Franco Pignatti
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.
Human molecular genetics 1995;4(8):1331-5.
1995: de benedetti fabrizio; M Massa; Pier Franco Pignatti; M Kelley; C R Faltynek; Alberto Martini
Elevated circulating interleukin-7 levels in patients with systemic juvenile rheumatoid arthritis.
The Journal of rheumatology 1995;22(8):1581-5.
1995: M Massa; de benedetti fabrizio; Pier Franco Pignatti; Salvatore Albani; Marc Monestier; A Martini
Lack of temporal association of iridocyclitis with IgG reactivities to core histones and nucleosome subparticles in pauciarticular juvenile chronic arthritis.
British journal of rheumatology 1995;34(6):507-11.
1995: S Rossetti; S Corrà; M O Biasi; Alberto Turco; Pier Franco Pignatti
Comparison of heteroduplex and single-strand conformation analyses, followed by ethidium fluorescence visualization, for the detection of mutations in four human genes.
Molecular and cellular probes 1995;9(3):195-200.
1995: Elisabetta Trabetti; R Galavotti; A Casartelli; G Magalini; D De Leo; Pier Franco Pignatti
Allele and genotype frequencies of eight DNA polymorphisms in the Italian population.
Molecular and cellular probes 1995;9(3):183-8.
1995: Pier Franco Pignatti; Cristina Bombieri; C Marigo; MG Benetazzo; Maurizio Luisetti
Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.
Human molecular genetics 1995;4(4):635-9.
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 Turco; S Rossetti; B Peissel; L Gammaro; Giuseppe Maschio; Pier Franco Pignatti
Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD, using DNA markers linked to the PKD1 and PKD2 genes.
Contributions to nephrology 1995;115():88-92.
1995: Alberto Turco; E M Padovani; B Peissel; G P Chiaffoni; S Rossetti; L Gammaro; Giuseppe Maschio; Pier Franco Pignatti
Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report.
Journal of perinatal medicine 1995;23(3):205-12.
1995: F Zolezzi; Antonella Forlino; Monica Mottes; Maurizia Valli; A Sensi; E Calzolari; Pier Franco Pignatti; Giuseppe Cetta
A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OI.
Human mutation 1995;6(3):268-71.
1995: Macarena Gomez-Lira; C Perusi; N Brutti; M A Farnetani; M A Margollicci; Nicolò Rizzuto; Pier Franco Pignatti; Alessandro Salviati
A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease.
Human mutation 1995;6(3):260-2.
1995: Maurizio Luisetti; Pier Franco Pignatti
The search for susceptibility genes of COPD.
Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace / Fondazione clinica del lavoro, IRCCS [and] Istituto di clinica tisiologica e malattie apparato respiratorio, Università di Napoli, Secondo ateneo 1995;50(1):28-32.
1994: Macarena Gomez-Lira; A Sangalli; Pier Franco Pignatti; M C Digilio; A Giannotti; E Carnevale; Monica Mottes
Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.
Journal of medical genetics 1994;31(12):965-8.
1994: Antonella Forlino; F Zolezzi; Maurizia Valli; Pier Franco Pignatti; Giuseppe Cetta; P C Brunelli; Monica Mottes
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.
Human molecular genetics 1994;3(12):2201-6.
1994: Bernard Mercier; O Raguénès; X Estivill; N Morral; G C Kaplan; M McClure; T A Grebe; D Kessler; Pier Franco Pignatti; C Marigo
Complete detection of mutations in cystic fibrosis patients of Native American origin.
Human genetics 1994;94(6):629-32.
1994: Alberto Turco; B Peissel; S Rossetti; Pier Franco Pignatti
Rapid DNA-based prenatal diagnosis of autosomal dominant polycystic kidney disease.
Archives of pediatrics & adolescent medicine 1994;148(10):1101-2.
1994: Alberto Turco; B Peissel; S Rossetti; Pier Franco Pignatti; E M Padovani; G P Chiaffoni
Skeletal malformations and polycystic kidney disease.
Journal of medical genetics 1994;31(9):741-2.
1994: Monica Mottes; A Sangalli; Maurizia Valli; Antonella Forlino; Macarena Gomez-Lira; Franco Antoniazzi; C D Constantinou-Deltas; Giuseppe Cetta; Pier Franco Pignatti
A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.
Human genetics 1994;93(6):681-7.
1994: de benedetti fabrizio; M Massa; Pier Franco Pignatti; Salvatore Albani; D Novick; A Martini
Serum soluble interleukin 6 (IL-6) receptor and IL-6/soluble IL-6 receptor complex in systemic juvenile rheumatoid arthritis.
The Journal of clinical investigation 1994;93(5):2114-9.
1994: M Massa; de benedetti fabrizio; Pier Franco Pignatti; Salvatore Albani; G Di Fuccia; Marc Monestier; Alberto Martini
Anti-double stranded DNA, anti-histone, and anti-nucleosome IgG reactivities in children with systemic lupus erythematosus.
Clinical and experimental rheumatology 1994;12(2):219-25.
1994: Alessandra Renieri; L Galli; Mario De Marchi; S Li Volti; F Mollica; A Lupo; Giuseppe Maschio; B Peissel; S Rossetti; Pier Franco Pignatti
Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome.
Human molecular genetics 1994;3(1):201-2.
1994: B Peissel; S Rossetti; Alessandra Renieri; L Galli; Mario De Marchi; Graziana Battini; Mietta Meroni; Adalberto Sessa; S Schiavano; Pier Franco Pignatti
A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
Human mutation 1994;3(4):386-90.
1993: G Borgo; Paolo Gasparini; Alberto Bonizzato; Giulio Cabrini; G Mastella; Pier Franco Pignatti
Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study.
European journal of pediatrics 1993;152(12):1006-11.
1993: C Benini; Giuseppe Bandini; Maria Rosa Motta; A R Belardinelli; E Calori; Simonetta Rizzi; giovanni martinelli; Gianantonio Rosti; Elisabetta Trabetti; Pier Franco Pignatti
Donor origin of hematopoiesis after a case of allogeneic transplantation with cryopreserved marrow.
Haematologica 1993;78(6):414-5.
1993: Maurizia Valli; F Zolezzi; Monica Mottes; Franco Antoniazzi; F Stanzial; R Tenni; Pier Franco Pignatti; Giuseppe Cetta
Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.
European journal of biochemistry / FEBS 1993;217(1):77-82.
1993: Elisabetta Trabetti; R Galavotti; L Zanini; E Zardini; N Zatti; F Bernardi; A Notarangelo; A I Croce; Pier Franco Pignatti; Paolo Gasparini
The parental origin of hydatidiform moles and blighted ova: molecular probing with hypervariable DNA polymorphisms.
Molecular and cellular probes 1993;7(4):325-9.
1993: Mario Sessarego; giovanni martinelli; A Chiamenti; R Defferrari; Giuseppina Fugazza; Roberto Bruzzone; Franco Ajmar; Pier Franco Pignatti
Molecular analysis of six variant Philadelphia chromosome translocations in chronic myeloid leukemia.
Cancer genetics and cytogenetics 1993;67(1):50-4.
1993: Alberto Turco; E M Padovani; G P Chiaffoni; B Peissel; S Rossetti; A Marcolongo; L Gammaro; Giuseppe Maschio; Pier Franco Pignatti
Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations.
Journal of medical genetics 1993;30(5):419-22.
1993: Elisabetta Trabetti; R Galavotti; Pier Franco Pignatti
Genetic variation in the Italian population at five tandem repeat loci amplified in vitro: use in paternity testing.
Molecular and cellular probes 1993;7(1):81-7.
1993: Maurizia Valli; A Sangalli; Antonio Rossi; Monica Mottes; Antonella Forlino; R Tenni; Pier Franco Pignatti; Giuseppe Cetta
Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chain.
European journal of biochemistry / FEBS 1993;211(3):415-9.
1993: Monica Mottes; A Sangalli; Pier Franco Pignatti
Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families.
American journal of medical genetics 1993;45(2):217-22.
1993: Monica Mottes; Macarena Gomez-Lira; Maurizia Valli; G Scarano; Fortunato Lonardo; Antonella Forlino; Giuseppe Cetta; Pier Franco Pignatti
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.
Human mutation 1993;2(3):196-204.
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.
1992: Pier Franco Pignatti; Alberto Turco
Tracking disease genes by reverse genetics.
Journal of psychiatric research 1992;26(4):287-98.
1992: Maria Alessandra Santucci; Elisabetta Trabetti; giovanni martinelli; M Buzzi; Alfonso Zaccaria; S Pileri; P Farabegoli; E Sabattini; Sante Tura; Pier Franco Pignatti
Host origin of bone marrow fibroblasts following allogeneic bone marrow transplantation for chronic myeloid leukemia.
Bone marrow transplantation 1992;10(3):255-9.
1992: Paolo Gasparini; G Borgo; G Mastella; Alberto Bonizzato; M Dognini; Pier Franco Pignatti
Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
Journal of medical genetics 1992;29(8):558-62.
1992: Monica Mottes; A Sangalli; Maurizia Valli; Macarena Gomez-Lira; R Tenni; P Buttitta; Pier Franco Pignatti; Giuseppe Cetta
Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene.
Human genetics 1992;89(5):480-4.
1992: S Bozzini; Livia Visai; Pier Franco Pignatti; T E Petersen; Pietro Speziale
Multiple binding sites in fibronectin and the staphylococcal fibronectin receptor.
European journal of biochemistry / FEBS 1992;207(1):327-33.
1992: Alberto Turco; B Peissel; P Quaia; R Morandi; Luciano Bovicelli; Pier Franco Pignatti
Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction.
Prenatal diagnosis 1992;12(6):513-24.
1992: Virginia Nunes; Alberto Bonizzato; A Gaona; M Dognini; M Chillón; Teresa Casals; Pier Franco Pignatti; Giuseppe Novelli; Xavier Estivill; Paolo Gasparini
A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.
American journal of human genetics 1992;50(5):1140-2.
1992: giovanni martinelli; A Chiamenti; Paolo Gasparini; Pier Franco Pignatti; A Ambrosetti; Alfonso Zaccaria; M Buzzi; Nicoletta Testoni; S Tura; A Guerrasio
BCR breakpoint subregions and blast crisis lineage in CML patients.
Blood 1992;79(3):838-9.
1992: Paolo Gasparini; Alberto Bonizzato; M Dognini; Pier Franco Pignatti
Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations.
Molecular and cellular probes 1992;6(1):1-7.
1991: Alberto Turco; B Peissel; L Gammaro; Giuseppe Maschio; Pier Franco Pignatti
Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families.
Clinical genetics 1991;40(4):287-97.
1991: P Gasparini; Pier Franco Pignatti; G Borgo; G Mastella
Sweat chloride concentration in cystic fibrosis patients varies with KM.19 genotype but not with the presence of the common F508 deletion.
American journal of medical genetics 1991;39(2):230-1.
1991: Paolo Gasparini; M Dognini; Alberto Bonizzato; Pier Franco Pignatti; N Morral; Xavier Estivill
A tetranucleotide repeat polymorphism in the cystic fibrosis gene.
Human genetics 1991;86(6):625.
1991: Maurizia Valli; Monica Mottes; R Tenni; A Sangalli; Macarena Gomez-Lira; Antonio Rossi; Franco Antoniazzi; Giuseppe Cetta; Pier Franco Pignatti
A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.
The Journal of biological chemistry 1991;266(3):1872-8.
1991: Paolo Gasparini; Paola Mandich; Giuseppe Novelli; Emilia Bellone; Federica Sangiuolo; F De Stefano; L Potenza; Elisabetta Trabetti; Mario Marigo; Pier Franco Pignatti
Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms.
Human heredity 1991;41(3):174-81.
1991: giovanni martinelli; Mario Sessarego; Paolo Gasparini; Achille Ambrosetti; F Frassoni; A M Chiamenti; Pier Franco Pignatti
An assessment of chimeric transcript detection in CML patients after bone marrow transplantation.
Bone marrow transplantation 1991;7 Suppl 2():21.
1991: Francesco Frassoni; Mario Sessarego; giovanni martinelli; P Strada; Francesca Gualandi; Teresa Lamparelli; Pier Franco Pignatti; R Defferrari; Giuseppina Fugazza; Andrea Bacigalupo
Patterns of relapse after bone marrow transplantation for chronic myeloid leukaemia.
Bone marrow transplantation 1991;7 Suppl 2():17-8.
1990: G Borgo; G Mastella; Paolo Gasparini; A Zorzanello; R Doro; Pier Franco Pignatti
Pancreatic function and gene deletion F508 in cystic fibrosis.
Journal of medical genetics 1990;27(11):665-9.
1990: Giuseppe Novelli; Paolo Gasparini; A Savoia; Pier Franco Pignatti; Federica Sangiuolo; Bruno Dallapiccola
Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families.
Human genetics 1990;85(4):420-1.
1990: Giuseppe Novelli; Federica Sangiuolo; Bruno Dallapiccola; Paolo Gasparini; A Savoia; Pier Franco Pignatti; E Fernandez; J Benitez; Teresa Casals; Virginia Nunes
Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.
Prenatal diagnosis 1990;10(6):413-4.
1990: Monica Mottes; L Cugola; N Cappello; Pier Franco Pignatti
Segregation analysis of dominant osteogenesis imperfecta in Italy.
Journal of medical genetics 1990;27(6):367-70.
1990: R Tenni; Antonio Rossi; Maurizia Valli; Monica Mottes; Pier Franco Pignatti; Giuseppe Cetta
Anomalous cysteine in type I collagen. Localisation by chemical cleavage of the protein using 2-nitro-5-thiocyanobenzoic acid and by mismatch analysis of cDNA heteroduplexes.
Matrix (Stuttgart, Germany) 1990;10(1):20-6.
1990: Paolo Gasparini; A Savoia; Maurizio Luisetti; V Peona; Pier Franco Pignatti
The cystic fibrosis gene is not likely to be involved in chronic obstructive pulmonary disease.
American journal of respiratory cell and molecular biology 1990;2(3):297-9.
1990: Paolo Gasparini; Elisabetta Trabetti; A Savoia; Mario Marigo; Pier Franco Pignatti
Frequency distribution of the alleles of several variable number of tandem repeat DNA polymorphisms in the Italian population.
Human heredity 1990;40(2):61-8.
1989: Paolo Gasparini; G Martinelli; Elisabetta Trabetti; A Ambrosetti; F Benedetti; Pier Franco Pignatti
Bone marrow transplantation monitoring by DNA analysis.
Bone marrow transplantation 1989;4 Suppl 4():157-9.
1989: Monica Mottes; L Cugola; Pier Franco Pignatti
Haplotype frequencies of the collagen type-I genes in the Italian population.
Human genetics 1989;83(4):369-72.
1989: Xavier Estivill; Paolo Gasparini; Giuseppe Novelli; Teresa Casals; Virginia Nunes; P Gallano; A Savoia; A Ruzzo; Bruno Dallapiccola; Pier Franco Pignatti
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations.
Human genetics 1989;83(2):175-8.
1989: Paolo Gasparini; Giuseppe Novelli; A Savoia; Bruno Dallapiccola; Pier Franco Pignatti
First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: report of eight cases.
Prenatal diagnosis 1989;9(5):349-55.