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1

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

Rossetti, Sandro, Bresin, Elena, Restagno, Gabriella, Carbonara, Angelo, Corrà, Stefano, Prisco, Ornella De, Pignatti, Pier Franco, Turco, Alberto E.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 528 KB

english, 1996

2

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

3

Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease

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

Journal:

Year:

1997

Language:

english

File:

PDF, 161 KB

english, 1997

4

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

5

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

6

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

7

A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5

Bernard Peissel, Sandro Rossetti, Alessandra Renieri, Lucia Galli, Mario De Marchi, Graziana Battini, Mietta Meroni, Adalberto Sessa, Salvatore Schiavano, Pier Franco Pignatti, Alberto E. Turco

Journal:

Year:

1994

Language:

english

File:

PDF, 504 KB

english, 1994

8

A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset sandhoff disease

Macarena Gomez-Lira, Chiara Perusi, Nadia Brutti, M. Angela Farnetani, M. Antonietta Margollicci, Nicolò Rizzuto, Pier Franco Pignatti, Alessandro Salviati

Journal:

Year:

1995

Language:

english

File:

PDF, 223 KB

english, 1995

9

A 931 + 2T → C transition in one COL1A2 allele causes exon 16 skipping in PROα2(I) mRNA and produces moderately severe OI

Francesca Zolezzi, Antonella Forlino, Monica Mottes, Maurizia Valli, Alberto Sensi, Elisa Calzolari, Pier Franco Pignatti, Giuseppe Cetta

Journal:

Year:

1995

Language:

english

File:

PDF, 357 KB

english, 1995

10

Mutations associated with very late-onset metachromatic leukodystrophy

Chiara Perusi, Macarena Gomez Lira, Ruurd F Duyff, Henri C Weinstein, Pier Franco Pignatti, Nicola Rizzuto, Alessandro Salviati

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 79 KB

english, 1999

11

The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated

Caterina Borgna-Pignatti, Agostina Solinas, Cristina Bombieri, Rocco Micciolo, Maria Rita Gamberini, Piero De Stefano, Ernesto De Menis, Pier Franco Pignatti

Journal:

British Journal of Haematology

Year:

1998

Language:

english

File:

PDF, 262 KB

english, 1998

12

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

13

Additive effect of LRP8/APOER2 R952Q variant to APOE ε2/ε3/ε4 genotype in modulating apolipoprotein E concentration and the risk of myocardial infarction: a case-control study

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,

Journal:

BMC Medical Genetics

Year:

2009

Language:

english

File:

PDF, 529 KB

english, 2009

14

Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease

Ugo Cavallari, Elisabetta Trabetti, Giovanni Malerba, Michele Biscuola, Domenico Girelli, Oliviero Olivieri, Nicola Martinelli, Dominick J Angiolillo, Roberto Corrocher, Pier Franco Pignatti

Journal:

BMC Medical Genetics

Year:

2007

Language:

english

File:

PDF, 492 KB

english, 2007

15

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

16

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

17

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

18

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

19

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

20

Polymorphic DNA haplotypes and ΔF508 deletion in 212 Italian CF families

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

Journal:

Year:

1990

Language:

english

File:

PDF, 214 KB

english, 1990

21

Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation

M. Gomez-Lira, Chiara Perusi, Monica Mottes, Pier Franco Pignatti, Michela Manfredi, Nicolò Rizzuto, Alessandro Salviati

Journal:

Year:

1998

Language:

english

File:

PDF, 102 KB

english, 1998

22

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

23

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

24

Circadian and Seasonal Variation of Migraine Attacks in Children

Stefano Soriani, Elisa Fiumana, Roberto Manfredini, Benedetta Boari, Pier Antonio Battistella, Elisabetta Canetta, Stefania Pedretti, Caterina Borgna-Pignatti

Journal:

Headache: The Journal of Head and Face Pain

Year:

2006

Language:

english

File:

PDF, 350 KB

english, 2006

25

Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study

Bombieri, Cristina, Luisetti, Maurizio, Belpinati, Francesca, Zuliani, Elisa, Beretta, Anna, Baccheschi, Jordan, Casali, Lucio, Pignatti, Pier Franco

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 55 KB

english, 2000

26

Cationic trypsinogen and pancreatic secretory trypsin inhibitor gene mutations in neonatal hypertrypsinaemia

Patuzzo, Cristina, Castellani, Carlo, Sagramoso, Carlo, Gomez-Lira, Macarena, Bonamini, Deborah, Belpinati, Francesca, Dechecchi, Maria Cristina, Assael, Baroukh Maurice, Pignatti, Pier Franco

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 63 KB

english, 2003

27

Comment on ‘CFTR gene mutations in sarcoidosis’

Bombieri, Cristina, Belpinati, Francesca, Pignatti, Pier Franco, Luisetti, Maurizio

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 42 KB

english, 2003

28

Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients

Gomez-Lira, Macarena, Bonamini, Deborah, Castellani, Carlo, Unis, Lorenza, Cavallini, Giorgio, Assael, Baroukh Maurice, Pignatti, Pier Franco

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 71 KB

english, 2003

29

Frequency of large CFTR gene rearrangements in Italian CF patients

Bombieri, Cristina, Bonizzato, Alberto, Castellani, Carlo, Assael, Baroukh M, Pignatti, Pier Franco

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 54 KB

english, 2005

30

On the association of the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction or coronary artery disease

Trabetti, Elisabetta, Biscuola, Michele, Cavallari, Ugo, Malerba, Giovanni, Girelli, Domenico, Olivieri, Oliviero, Martinelli, Nicola, Corrocher, Roberto, Pignatti, Pier Franco

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 71 KB

english, 2005

31

Reply to Novelli

Trabetti, Elisabetta, Biscuola, Michele, Cavallari, Ugo, Malerba, Giovanni, Pasquali, Alessandra, Girelli, Domenico, Olivieri, Oliviero, Martinelli, Nicola, Corrocher, Roberto, Pignatti, Pier Franco

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 45 KB

english, 2006

32

Reply to Professor Haig

Pignatti, Pier Franco

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

33

Cystic Fibrosis: Cystic fibrosis and lactase persistence: a possible correlation

Modiano, Guido, Ciminelli, Bianca M, Pignatti, Pier F

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 95 KB

english, 2006

34

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

35

Fully non-homogeneous hidden Markov model double net: A generative model for haplotype reconstruction and block discovery

Alessandro Perina, Marco Cristani, Luciano Xumerle, Vittorio Murino, Pier Franco Pignatti, Giovanni Malerba

Journal:

Artificial Intelligence in Medicine

Year:

2009

Language:

english

File:

PDF, 1.11 MB

english, 2009

36

Reconstruction and functional analysis of altered molecular pathways in human atherosclerotic arteries

Stefano Cagnin, Michele Biscuola, Cristina Patuzzo, Elisabetta Trabetti, Alessandra Pasquali, Paolo Laveder, Giuseppe Faggian, Mauro Iafrancesco, Alessandro Mazzucco, Pier Franco Pignatti, Gerolamo La

Journal:

Year:

2009

Language:

english

File:

PDF, 1.62 MB

english, 2009

37

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

38

A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome

Alberto E. Turco, Sandro Rossetti, M. Olivia Biasi, Gianfranco Rizzoni, Laura Massella, Niina H. Saarinen, Allessandra Renieri, Pier Franco Pignatti, Mario De Marchi

Journal:

Clinical Genetics

Year:

1995

Language:

english

File:

PDF, 341 KB

english, 1995

39

Osteogenesis imprefecta and type-I collagen mutations : A lethal variant caused by a Gly910→Ala substitution in the α1(I) chain

Maurizia VALLI, Antonella SANGALLI, Antonio ROSSI, Monica MOTTES, Antonella FORLINO, Ruggero TENNI, Pier Franco PIGNATTI, Giuseppe CETTA

Journal:

Year:

1993

Language:

english

File:

PDF, 695 KB

english, 1993

40

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

41

Asthma and Bronchial Hyperresponsiveness Linked to the XY Long Arm Pseudoautosomal Region

Kenneth J. Holroyd, Laura C. Martinati, Elisabetta Trabetti, Titia Scherpbier, Scott M. Eleff, Attilio L. Boner, Pier Franco Pignatti, Matthew B. Kiser, Carl R. Dragwa, Frank Hubbard, Christine D. Sul

Journal:

Year:

1998

Language:

english

File:

PDF, 67 KB

english, 1998

42

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

43

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

44

«Fingerprinting» of HLA-DQA by polymerase chain reaction and heteroduplex analysis

Giovanni Martinelli, Elisabetta Trabetti, Patrizia Farabegoli, Marina Buzzi, Alfonso Zaccaria, Nicoletta Testoni, Marilina Amabile, Alessandro Casartelli, Antonello de Vivo, Pier Franco Pignatti, Sant

Journal:

Molecular and Cellular Probes

Year:

1996

Language:

english

File:

PDF, 202 KB

english, 1996

45

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

46

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

47

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

48

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

49

Detection of a large deletion in the P-selectin (SELP) gene

Alessandra Pasquali, Elisabetta Trabetti, Maria Grazia Romanelli, Roberta Galavotti, Nicola Martinelli, Domenico Girelli, Giovanni Gambaro, Oliviero Olivieri, Pier Franco Pignatti

Journal:

Molecular and Cellular Probes

Year:

2010

Language:

english

File:

PDF, 701 KB

english, 2010

50

Distribution of human β-defensin polymorphisms in various control and cystic fibrosis populations

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-Jacq

Journal:

Year:

2005

Language:

english

File:

PDF, 203 KB

english, 2005

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