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51

First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: Report of eight cases

Paolo Gasparini, Giuseppe Novelli, Anna Savoia, Bruno Dallapiccola, Pier Franco Pignatti

Journal:

Prenatal Diagnosis

Year:

1989

Language:

english

File:

PDF, 371 KB

english, 1989

52

Trends in pharmacogenomics of drugs used in the treatment of asthma

Pier Franco Pignatti

Journal:

Pharmacological Research

Year:

2004

Language:

english

File:

PDF, 81 KB

english, 2004

53

Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis

Marigo, Cristina, Benetazzo, Mariagiovanna, Luisetti, Maurizio, Pignatti, Pier Franco, Bombieri, Cristina

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 480 KB

english, 1995

54

Intrafamilial variable expressivity of osteogenesis imperfecta due to mosaicism for a lethal G382R substitution in theCOL1A1gene

Lola Cohen-Solal, Francesca Zolezzi, Pier Franco Pignatti, Monica Mottes

Journal:

Molecular and Cellular Probes

Year:

1996

Language:

english

File:

PDF, 317 KB

english, 1996

55

Allelic Frequencies of FBN1 Gene Polymorphisms and Genetic Analysis of Italian Families with Marfan Syndrome

Mottes, Monica, Mirandola, Stefania, Rigatelli, Federica, Zolezzi, Francesca, Lisi, Veronica, Gordon, Derek, Pignatti, Pier Franco

Journal:

Year:

2000

Language:

english

File:

PDF, 279 KB

english, 2000

56

Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families

Monica Mottes, Antonella Sangalli, Prof. Pier Franco Pignatti

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 707 KB

english, 1993

57

Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction

Alberto Turco, Bernard Peissel, Piero Quaia, Raffaella Morandi, Luciano Bovicelli, Pier Franco Pignatti

Journal:

Prenatal Diagnosis

Year:

1992

Language:

english

File:

PDF, 723 KB

english, 1992

58

ALOX5AP gene variants and risk of coronary artery disease: an angiography-based study

Girelli, Domenico, Martinelli, Nicola, Trabetti, Elisabetta, Olivieri, Oliviero, Cavallari, Ugo, Malerba, Giovanni, Busti, Fabiana, Friso, Simonetta, Pizzolo, Francesca, Pignatti, Pier Franco

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 106 KB

english, 2007

59

The Interaction between MTHFR 677 C→T Genotype and Folate Status Is a Determinant of Coronary Atherosclerosis Risk

Girelli, Domenico, Martinelli, Nicola, Pizzolo, Francesca, Friso, Simonetta, Olivieri, Oliviero, Stranieri, Chiara, Trabetti, Elisabetta, Faccini, Giovanni, Tinazzi, Elisa, Pignatti, Pier Franco, Corr

Journal:

Journal of Nutrition

Year:

2003

Language:

english

File:

PDF, 84 KB

english, 2003

60

Biochemical and Genetic Markers of Iron Status and the Risk of Coronary Artery Disease: An Angiography-based Study

Bozzini, Claudia, Girelli, Domenico, Tinazzi, Elisa, Olivieri, Oliviero, Stranieri, Chiara, Bassi, Antonella, Trabetti, Elisabetta, Faccini, Giovanni, Pignatti, Pier Franco, Corrocher, Roberto

Journal:

Clinical Chemistry

Year:

2002

File:

PDF, 155 KB

2002

61

Frequency of Factor V Leiden in Juvenile Migraine With Aura

Stefano Soriani, Caterina Borgna-Pignatti, Elisabetta Trabetti, Alessandro Casartelli, Pasquale Montagna, Pier Franco Pignatti

Journal:

Headache: The Journal of Head and Face Pain

Year:

1998

Language:

english

File:

PDF, 437 KB

english, 1998

62

Comparison of heteroduplex and single-strand conformation analyses, followed by ethidium fluorescence visualization,for the detection of mutations in four human genes

Sandro Rossetti, Stefano Corrà, Maria Olivia Biasi, Alberto E. Turco, Pier Franco Pignatti

Journal:

Molecular and Cellular Probes

Year:

1995

Language:

english

File:

PDF, 955 KB

english, 1995

63

Polymorphism −2604G>A variants in TLR4 promoter are associated with different gene expression level in peripheral blood of atherosclerotic patients

Ferronato, Silvia, Gomez-Lira, Macarena, Menegazzi, Marta, Diani, Erica, Olivato, Silvia, Sartori, Marianna, Scuro, Alberto, Malerba, Giovanni, Pignatti, Pier Franco, Romanelli, Maria Grazia, Mazzucco

Journal:

Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 479 KB

english, 2013

64

Complete mutational screening of theCFTRgene in 120 patients with pulmonary disease

C. Bombieri, Mariagiovanna Benetazzo, Arianna Saccomani, Francesca Belpinati, Lucia Sonia Gilè, Maurizio Luisetti, Pier Franco Pignatti

Journal:

Year:

1998

Language:

english

File:

PDF, 36 KB

english, 1998

65

Random location and absence of movement of the nucleosomes on SV 40 nucleoprotein complex isolated from infected cells

Chantal Crémisi, Pier Franco Pignatti, Moshe Yaniv

Journal:

Biochemical and Biophysical Research Communications

Year:

1976

Language:

english

File:

PDF, 2.07 MB

english, 1976

66

1059G/C polymorphism within the exon 2 of the C-reactive protein gene: relationship to C-reactive protein levels and prognosis in unstable angina

Rizzello, Vittoria, Liuzzo, Giovanna, Giannuario, Giovanna Di, Trabetti, Elisabetta, Brugaletta, Salvatore, Santamaria, Matteo, Piro, Maddalena, Pignatti, Pier Franco, Maseri, Attilio, Biasucci, Luigi

Journal:

Coronary Artery Disease

Year:

2007

Language:

english

File:

PDF, 108 KB

english, 2007

67

The Characterization of the α-Subunits of 7S Nerve Growth Factor

Robert W. Stach, Pier F. Pignatti, Michael E. Baker, Eric M. Shooter

Journal:

Journal of Neurochemistry

Year:

1980

Language:

english

File:

PDF, 516 KB

english, 1980

68

Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families

Alberto Turco, Bernard Peissel, Linda Gammaro, Giuseppe Maschio, Pier Franco Pignatti

Journal:

Clinical Genetics

Year:

1991

Language:

english

File:

PDF, 650 KB

english, 1991

69

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

Nicola Martinelli, Elisabetta Trabetti, Antonella Bassi, Domenico Girelli, Simonetta Friso, Francesca Pizzolo, Marco Sandri, Giovanni Malerba, Pier Franco Pignatti, Roberto Corrocher, Oliviero Olivier

Journal:

Atherosclerosis

Year:

2007

Language:

english

File:

PDF, 222 KB

english, 2007

70

Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine α1(I) 901 substitution in a type-I collagen gene

Monica Mottes, Antonella Sangalli, Maurizia Valli, Macarena Gomez Lira, Ruggero Tenni, Piera Buttitta, Pier Franco Pignatti, Giuseppe Cetta

Journal:

Year:

1992

Language:

english

File:

PDF, 818 KB

english, 1992

71

An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene

Alberto E. Turco, Maurizio Clementi, Sandro Rossetti, Romano Tenconi, Pier Franco Pignatti

Journal:

American Journal of Kidney Diseases

Year:

1996

Language:

english

File:

PDF, 319 KB

english, 1996

72

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

Cristina Marigo, Cristina Bombieri, L. Bisceglia, L. Zelante, P. Gasparini, Pier Franco Pignatti

Journal:

Molecular and Cellular Probes

Year:

1995

Language:

english

File:

PDF, 555 KB

english, 1995

73

Association of childhood allergic asthma with markers flanking the IL33 gene in Italian families

Belpinati, Francesca, Malerba, Giovanni, Trabetti, Elisabetta, Galavotti, Roberta, Xumerle, Luciano, Pescollderungg, Lydia, Boner, Attilio Loris, Pignatti, Pier Franco

Journal:

Journal of Allergy and Clinical Immunology

Year:

2011

Language:

english

File:

PDF, 67 KB

english, 2011

74

PlA polymorphism and platelet reactivity following clopidogrel loading dose in patients undergoing coronary stent implantation

Angiolillo, Dominick J, Fernandez-Ortiz, Antonio, Bernardo, Esther, Alfonso, Fernando, Sabaté, Manel, Fernández, Cristina, Stranieri, Chiara, Trabetti, Elisabetta, Pignatti, Pier Franco, Macaya, Carlo

Journal:

Blood Coagulation & Fibrinolysis

Year:

2004

Language:

english

File:

PDF, 93 KB

english, 2004

75

Sweat chloride concentration in cystic fibrosis patients varies with KM.19 genotype but not with the presence of the common F508 deletion

Paolo Gasparini, Pier Franco Pignatti, Graziella Borgo, Gianni Mastella

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 147 KB

english, 1991

76

Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfecta

Monica Mottes, M. Gomez Macarena Lira, Maurizia Valli, Gioacchino Scarano, Fortunato Lonardo, Antonella Forlino, Giuseppe Cetta, Pier Franco Pignatti

Journal:

Year:

1993

Language:

english

File:

PDF, 776 KB

english, 1993

77

Allele and genotype frequencies of eight DNA polymorphisms in the Italian population

Elisabetta Trabetti, Roberta Galavotti, Alessandro Casartelli, Giovanna Magalini, Domenico De Leo, Pier Franco Pignatti

Journal:

Molecular and Cellular Probes

Year:

1995

Language:

english

File:

PDF, 542 KB

english, 1995

78

Cystic Fibrosis Mutation Testing in Italy

Bombieri, Cristina, Pignatti, Pier Franco

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 90 KB

english, 2001

79

A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the Arylsulfatase A gene

Chiara Perusi, Macarena Gomez-Lira, Monica Mottes, Pier Franco Pignatti, Nicolo Rizzuto, Alessandro Salviati

Journal:

Molecular and Cellular Probes

Year:

1997

Language:

english

File:

PDF, 126 KB

english, 1997

80

Minichromosome from BK Virus as a Template for Transcription in vitro

Guerrino Meneguzzi, Pier Franco Pignatti, Giuseppe Barbanti-Brodano and Gabriele Milanesi

Journal:

Proceedings of the National Academy of Sciences

Year:

1978

Language:

english

File:

PDF, 1.14 MB

english, 1978

81

Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report

Turco, Alberto E., Padovani, Ezio M., Peissel, Bernard, Chiaffoni, Gian Paolo, Rossetti, Sandro, Gammaro, Linda, Maschio, Giuseppe, Pignatti, Pier Franco

Journal:

Journal of Perinatal Medicine

Year:

1995

Language:

english

File:

PDF, 1.25 MB

english, 1995

82

Splicing mutation causes infantile Sandhoff disease

Gomez-Lira, Macarena, Perusi, Chiara, Mottes, Monica, Pignatti, Pier Franco, Rizzuto, Nicol�, Gatti, Rosanna, Salviati, Alessandro

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 204 KB

english, 1998

83

A common β hexosaminidase gene mutation in adult Sandhoff disease patients

Macarena Gomez-Lira, Antonella Sangalli, Monica Mottes, Chiara Perusi, Pier Franco Pignatti, Nicolò Rizzuto, Alessandro Salviati

Journal:

Year:

1995

Language:

english

File:

PDF, 1.07 MB

english, 1995

84

A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1)

Elena Bresin, Sandro Rossetti, Sabine Englisch, Stefano Corrà, Pier Franco Pignatti, Alberto E. Turco

Journal:

Molecular and Cellular Probes

Year:

1996

Language:

english

File:

PDF, 202 KB

english, 1996

85

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

Turco, Alberto E., Rossetti, Sandro, Bresin, Elena, Corra, Stefano, Gammaro, Linda, Maschio, Giuseppe, Pignatti, Pier Franco

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.85 MB

english, 1995

86

The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity

Salvatore, Marco, Falbo, Vincenzo, Floridia, Giovanna, Censi, Federica, Tosto, Fabrizio, Bombieri, Cristina, Castaldo, Giuseppe, Franco Pignatti, Pier, Cristina Rosatelli, Maria, Taruscio, Domenica

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2007

Language:

english

File:

PDF, 115 KB

english, 2007

87

Cystic fibrosis mutations R1162X and 2183AA®G in two southern Brasilian states

Pereira, Lilian, Raskin, Salmo, Freund, Aline A., Ribas, Patrícia D., Castro, Raquel M.V., Pignatti, Pier F., Culpi, Lodércio

Journal:

Genetics and Molecular Biology

Year:

1999

Language:

english

File:

PDF, 29 KB

english, 1999

88

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

Girelli, Domenico, Friso, Simonetta, Trabetti, Elisabetta, Olivieri, Oliviero, Russo, Carla, Pessotto, Renzo, Faccini, Giovanni, Pignatti, Pier Franco, Mazzucco, Alessandro, Corrocher, Roberto

Journal:

Year:

1998

File:

PDF, 133 KB

1998

89

Haplotype frequencies of the collagen type-I genes in the Italian population

Monica Mottes, Loredana Cugola, Pier Franco Pignatti

Journal:

Year:

1989

Language:

english

File:

PDF, 392 KB

english, 1989

90

A novel synonymous substitution in the GCK gene causes aberrant splicing in an Italian patient with GCK-MODY phenotype

Silvia Costantini, Paola Prandini, Massimiliano Corradi, Alessandra Pasquali, Giovanna Contreas, Pier Franco Pignatti, Leonardo Pinelli, Elisabetta Trabetti, Claudio Maffeis

Journal:

Diabetes Research and Clinical Practice

Year:

2011

Language:

english

File:

PDF, 256 KB

english, 2011

91

Molecular analysis of six variant Philadelphia chromosome translocations in chronic myeloid leukemia

Mario Sessarego, Giovanni Martinelli, Andrea Chiamenti, Raffaella Defferrari, Giuseppina Fugazza, Roberto Bruzzone, Franco Ajmar, Pier Franco Pignatti

Journal:

Cancer Genetics and Cytogenetics

Year:

1993

Language:

english

File:

PDF, 468 KB

english, 1993

92

Analysis of RBFOX1 gene expression in lymphoblastoid cell lines of Italian discordant autism spectrum disorders sib-pairs

Prandini, Paola, Zusi, Chiara, Malerba, Giovanni, ITAN,, Pignatti, Pier Franco, Trabetti, Elisabetta

Journal:

Molecular and Cellular Probes

Year:

2014

Language:

english

File:

PDF, 373 KB

english, 2014

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