Pignatti, Pier F.: search on Z-Library

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1

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

2

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

3

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

4

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

5

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

6

Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome

Alberto E. Turco, Elena Bresin, Sandro Rossetti, Borut Peterlin, Raffaella Morandi, Pier Franco Pignatti

Journal:

American Journal of Kidney Diseases

Year:

1997

Language:

english

File:

PDF, 1.42 MB

english, 1997

7

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

8

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

9

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

10

Cyclooxygenase 2, toll-like receptor 4 and interleukin 1β mRNA expression in atherosclerotic plaques of type 2 diabetic patients

Baldan, Alessandro, Ferronato, Silvia, Olivato, Silvia, Malerba, Giovanni, Scuro, Alberto, Veraldi, Gian Franco, Gelati, Matteo, Ferrari, Sergio, Mariotto, Sara, Pignatti, Pier Franco, Mazzucco, Sara,

Journal:

Inflammation Research

Year:

2014

Language:

english

File:

PDF, 316 KB

english, 2014

11

Low Levels of Serum Paraoxonase Activities are Characteristic of Metabolic Syndrome and May Influence the Metabolic-Syndrome-Related Risk of Coronary Artery Disease

Martinelli, Nicola, Micaglio, Roberta, Consoli, Letizia, Guarini, Patrizia, Grison, Elisa, Pizzolo, Francesca, Friso, Simonetta, Trabetti, Elisabetta, Pignatti, Pier Franco, Corrocher, Roberto, Olivie

Journal:

Experimental Diabetes Research

Year:

2012

Language:

english

File:

PDF, 596 KB

english, 2012

12

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

13

«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

14

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

15

Characterization of the γ subunits of the 7S nerve growth factor complex

Stach, Robert W., Server, Alfred C., Pignatti, Pier F., Piltch, Arthur, Shooter, Eric M.

Journal:

Year:

1976

Language:

english

File:

PDF, 2.49 MB

english, 1976

16

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

17

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

18

Different impact of deletion polymorphism of gene on the risk of renal and coronary artery disease

Olivieri, Oliviero, Grazioli, Silvia, Pizzolo, Francesca, Stranieri, Chiara, Trabetti, Elisabetta, Beltrame, Federico, Girelli, Domenico, Pignatti, Pier Franco, Corrocher, Roberto

Journal:

Journal of Hypertension

Year:

2002

Language:

english

File:

PDF, 147 KB

english, 2002

19

807 C/T Polymorphism of the glycoprotein Ia gene and pharmacogenetic modulation of platelet response to dual antiplatelet treatment

Angiolillo, Dominick J, Fernandez-Ortiz, Antonio, Bernardo, Esther, Ram??rez, Celia, Escaned, Javier, Moreno, Raul, Hern??ndez-Antolin, Rosana, Sabat??, Manel, Trabetti, Elisabetta, Pignatti, Pier Fra

Journal:

Blood Coagulation & Fibrinolysis

Year:

2004

Language:

english

File:

PDF, 115 KB

english, 2004

20

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

21

Herpes simplex virus DNA isolation from infected cells with a novel procedure

Pier Franco Pignatti, Enzo Cassai, Guerrino Meneguzzi, Nicole Chenciner, Gabriele Milanesi

Journal:

Year:

1979

Language:

english

File:

PDF, 3.80 MB

english, 1979

22

Genetic analysis and pancreatic function in cystic fibrosis

Kopelman, Hinda, Rozen, Rima, Borgo, Graziella, Mastella, Gianni, Gasparini, Paolo, Franco Pignatti, Pier

Journal:

Year:

1990

Language:

english

File:

PDF, 155 KB

english, 1990

23

Involving the European National Human Genetics Societies

Pignatti, Pier Franco, Ramos, Feliciano J

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 847 KB

english, 2017

24

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

25

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

26

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

27

Role of the CD14 C(−260)T promoter polymorphism in determining the first clinical manifestation of coronary artery disease

Rizzello, Vittoria, Liuzzo, Giovanna, Trabetti, Elisabetta, Di Giannuario, Giovanna, Brugaletta, Salvatore, Santamaria, Matteo, Piro, Maddalena, Boccanelli, Alessandro, Pignatti, Pier Franco, Biasucci

Journal:

Journal of Cardiovascular Medicine

Year:

2010

Language:

english

File:

PDF, 353 KB

english, 2010

28

Studies on sporadic non-syndromic thoracic aortic aneurysms: 1. Deregulation of Jagged/Notch 1 homeostasis and selection of synthetic/secretor phenotype smooth muscle cells

Chiarini, Anna, Onorati, Francesco, Marconi, Maddalena, Pasquali, Alessandra, Patuzzo, Cristina, Malashichev, Anna, Irtyega, Olga, Faggian, Giuseppe, Pignatti, Pier F, Trabetti, Elisabetta, Armato, Ub

Journal:

European Journal of Preventive Cardiology

Year:

2018

Language:

english

File:

PDF, 894 KB

english, 2018

29

Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients

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

Journal:

Journal of the Neurological Sciences

Year:

1999

Language:

english

File:

PDF, 261 KB

english, 1999

30

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

Tenni, Ruggero, Rossi, Antonio, Valli, Maurizia, Mottes, Monica, Pignatti, Pier Franco, Cetta, Giuseppe

Journal:

Matrix - Collagen and Related Research

Year:

1990

Language:

english

File:

PDF, 1.51 MB

english, 1990

31

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

32

Transcription of polyoma virus DNA after interaction with nuclear proteins in vitro

Guerrino Meneguzzi, Pier Franco Pignatti, Gabriele Milanesi

Journal:

Biochemical and Biophysical Research Communications

Year:

1976

Language:

english

File:

PDF, 395 KB

english, 1976

33

Genetic testing for adult-type hypolactasia in Italian families

Mottes, Monica, Belpinati, Francesca, Milani, Monia, Saccomandi, Daniela, Petrelli, Elena, Calacoci, Marisa, Chierici, Roberta, Franco Pignatti, Pier, Borgna-Pignatti, Caterina

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2008

Language:

english

File:

PDF, 101 KB

english, 2008

34

Genetics of Idiopathic Disseminated Bronchiectasis

Luisetti, Maurizio, Franco Pignatti, Pier

Journal:

Seminars in Respiratory and Critical Care Medicine

Year:

2003

Language:

english

File:

PDF, 74 KB

english, 2003

35

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

36

Reply to Professor Haig

Pignatti, Pier Franco

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

37

Studies on sporadic non-syndromic thoracic aortic aneurysms: II. Alterations of extra-cellular matrix components and focal adhesion proteins

Chiarini, Anna, Onorati, Francesco, Marconi, Maddalena, Pasquali, Alessandra, Patuzzo, Cristina, Malashicheva, Anna, Irtyega, Olga, Faggian, Giuseppe, Pignatti, Pier F, Trabetti, Elisabetta, Armato, U

Journal:

European Journal of Preventive Cardiology

Year:

2018

Language:

english

File:

PDF, 730 KB

english, 2018

38

Anthropological features of the CFTR gene: Its variability in an African population

Maria Ciminelli, Bianca, Bombieri, Cristina, Ciccacci, Cinzia, Belpinati, Francesca, Pompei, Fiorenza, Maselli, Roberta, Simporé, Jacques, Pignatti, Pier Franco, Modiano, Guido

Journal:

Annals of Human Biology

Year:

2011

Language:

english

File:

PDF, 167 KB

english, 2011

39

No Association of Tumor Necrosis Factor-α Gene Polymorphism and, COPD in Caucasian Smokers and Japanese Smokers

Luisetti, Maurizio, Pignatti, Pier Franco

Journal:

Year:

2001

Language:

english

File:

PDF, 133 KB

english, 2001

40

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

41

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

42

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

43

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

44

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

45

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

46

Tumor Necrosis Factor Gene Complex in COPD and Disseminated Bronchiectasis

Patuzzo, Cristina, Gilè, Lucia S., Zorzetto, Michele, Trabetti, Elisabetta, Malerba, Giovanni, Pignatti, Pier Franco, Luisetti, Maurizio

Journal:

Year:

2000

Language:

english

File:

PDF, 391 KB

english, 2000

47

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

48

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

49

Homozygosity for angiotensinogen 235T variant increases the risk of myocardial infarction in patients with multi-vessel coronary artery disease

Olivieri, Oliviero, Stranieri, Chiara, Girelli, Domenico, Pizzolo, Francesca, Grazioli, Silvia, Russo, Carla, Pignatti, Pier Franco, Corrocher, Roberto

Journal:

Journal of Hypertension

Year:

2001

Language:

english

File:

PDF, 149 KB

english, 2001

50

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

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