M. Seia: search on Z-Library

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1

Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes

Laura Cremonesi, Maurizio Ferrari, Elena Belloni, Carmelina Magnani, Manuela Seia, Patrizia Ronchetto, Magdy Rady, Maria Pia Russo, Giovanni Romeo, Marcella Devoto

Journal:

Year:

1992

Language:

english

File:

PDF, 521 KB

english, 1992

2

Molecular and Functional Analysis of the Large 5′ Promoter Region of CFTR Gene Revealed Pathogenic Mutations in CF and CFTR-Related Disorders

Giordano, Sonia, Amato, Felice, Elce, Ausilia, Monti, Maria, Iannone, Carla, Pucci, Pietro, Seia, Manuela, Angioni, Adriano, Zarrilli, Federica, Castaldo, Giuseppe, Tomaiuolo, Rossella

Journal:

The Journal of Molecular Diagnostics

Year:

2013

Language:

english

File:

PDF, 521 KB

english, 2013

3

Genotypes and Phenotypes in Cystic Fibrosis and Cystic Fibrosis Transmembrane Regulator–Related Disorders

Bombieri, Cristina, Seia, Manuela, Castellani, Carlo

Journal:

Seminars in Respiratory and Critical Care Medicine

Year:

2015

Language:

english

File:

PDF, 299 KB

english, 2015

4

The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)

Censi, F., Tosto, F., Floridia, G., Marra, M., Salvatore, M., Baffico, A. M., Grasso, M., Melis, M. A., Pelo, E., Radice, P., Ravani, A., Rosatelli, C., Resta, N., Russo, S., Seia, M., Varesco, L., Fa

Journal:

BioMed Research International

Year:

2013

Language:

english

File:

PDF, 1.30 MB

english, 2013

5

May the new suggested lower borderline limit of sweat chloride impact the diagnostic process for cystic fibrosis?

Cirilli, Natalia, Braggion, Cesare, Mergni, Gianfranco, Polizzi, Angela Maria, Padoan, Rita, Sirianni, Stefania, Seia, Manuela, Raia, Valeria, Tosco, Antonella, Pisi, Giovanna, Spaggiari, Cinzia, Quat

Journal:

The Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 77 KB

english, 2018

6

Persistence of picloram in soil with different vegetation managements

Passos, Ana Beatriz R. J., Souza, Matheus F., Silva, Daniel Valadão, Saraiva, Douglas T., da Silva, Antônio Alberto, Zanuncio, José C., Gonçalves, Beatriz Fernandes Seia

Journal:

Environmental Science and Pollution Research

Year:

2018

Language:

english

File:

PDF, 475 KB

english, 2018

7

ACTIVITY OF RHIZOSPHERE SOIL MICROORGANISMS OF SUGARCANE CULTIVARS AFTER SPRAYING OF HERBICIDES: DIURON, TEBUTHIURON, AMETRYN AND DIURON + HEXAZINONE

FARIA, AUTIERES TEIXEIRA, GONÇALVES, BEATRIZ FERNANDES DE SEIA, SARAIVA, DOUGLAS TEIXEIRA, SOUZA, MATHEUS DE FREITAS, SILVA, ANTONIO ALBERTO DA, SILVA, DANIEL VALADÃO

Journal:

Revista Caatinga

Year:

2018

File:

PDF, 133 KB

2018

8

Effects of arachidonic acid metabolites in a murine model of squamous cell carcinoma

Kenneth A. Scioscia, Carl H. Snyderman, Frank D'Amico, Seia Comsa, Robert Rueger, Benjamin Light

Journal:

Year:

2000

Language:

english

File:

PDF, 159 KB

english, 2000

9

A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male

Rita Padoan, Diana Costantini, Maria Chiara Russo, Antonella Ambrosioni, Sabrina Fiori, Silvia Prandoni, Angelo Cantù-Rajnoldi, Manuela Seia, Annamaria Giunta

Journal:

Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

10

A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis

Rita Padoan, Alessandra Bassotti, Manuela Seia, Antonella Ambrosioni, Sabrina Fiori, Silvia Prandoni, Angelo Cantù Rajnoldi, Annamaria Giunta, Carlo Corbetta

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

11

A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus

Manuela Seia, Angelo Cantù-Rajnoldi, Antonella Ambrosioni, Sabrina Fiori, Silvia Prandoni, Carlo Corbetta, Alessandra Bassotti, Elena Moretti, Annamaria Giunta, Rita Padoan

Journal:

Year:

2000

Language:

english

File:

PDF, 10 KB

english, 2000

12

A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient

Manuela Seia, Angelo Cantù-Rajnoldi, Antonella Ambrosioni, Sabrina Fiori, Alessandra Bassotti, G. Pizzamiglio, Annamaria Giunta, Rita Padoan

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

13

An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests

Carlo Castellani, Sandra Perobelli, Vera Bianchi, Manuela Seia, Paola Melotti, Luisa Zanolla, Baroukh Maurice Assael, Faustina Lalatta

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 275 KB

english, 2011

14

Borderline sweat test: Utility and limits of genetic analysis for the diagnosis of cystic fibrosis

Manuela Seia, Lucy Costantino, Valentina Paracchini, Luigi Porcaro, Patrizia Capasso, Domenico Coviello, Carlo Corbetta, Erminio Torresani, Domenico Magazzù, Vincenza Consalvo, Alice Monti, Diana Cost

Journal:

Clinical Biochemistry

Year:

2009

Language:

english

File:

PDF, 273 KB

english, 2009

15

Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations

Valeria Brancolini, Laura Cremonesi, Elena Belloni, Emanuela Pappalardo, Roberta Bordoni, Manuela Seia, Silvia Russo, Rita Padoan, Annamaria Giunta, Maurizio Ferrari

Journal:

Year:

1995

Language:

english

File:

PDF, 805 KB

english, 1995

16

Frequency of the ΔF508 mutation in a sample of 175 Italian cystic fibrosis patients

Laura Cremonesi, Luca Ruocco, Manuela Seia, Silvia Russo, Annamaria Giunta, Patrizia Ronchetto, Laura Fenu, Luca Romano, Marcella Devoto, Giovanni Romeo, Maurizio Ferrari

Journal:

Year:

1990

Language:

english

File:

PDF, 270 KB

english, 1990

17

Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rareCFTRmutations

Rita Padoan, Alessandra Bassotti, Manuela Seia, Carlo Corbetta

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 70 KB

english, 2002

18

Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance

Alessio Paffoni, Valentina Paracchini, Stefania Ferrari, Claudia Scarduelli, Manuela Seia, Domenico A. Coviello, Guido Ragni

Journal:

Journal of Assisted Reproduction and Genetics

Year:

2011

Language:

english

File:

PDF, 361 KB

english, 2011

19

Identification of granzyme B-expressing CD-8-positive T cells in lymphocytic inflammatory infiltrate in cutaneous lupus erythematosus and in dermatomyositis

M. Grassi, F. Capello, L. Bertolino, Z. Seia, M. Pippione

Journal:

Clinical and Experimental Dermatology

Year:

2009

Language:

english

File:

PDF, 199 KB

english, 2009

20

Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions

V Paracchini, M Seia, D Coviello, L Porcaro, L Costantino, P Capasso, D Degiorgio, R Padoan, C Corbetta, L Claut, D Costantini, C Colombo

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 171 KB

english, 2008

21

CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries

María D. Ramos, Laia Masvidal, Javier Giménez, Eric Bieth, Manuela Seia, Marie des Georges, Lluís Armengol, Teresa Casals

Journal:

Annals of Human Genetics

Year:

2010

Language:

english

File:

PDF, 275 KB

english, 2010

22

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3)

Degiorgio, Dario, Colombo, Carla, Seia, Manuela, Porcaro, Luigi, Costantino, Lucy, Zazzeron, Laura, Bordo, Domenico, Coviello, Domenico A

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 208 KB

english, 2007

23

Laser-induced fluorescence integrated in a microfluidic immunosensor for quantification of human serum IgG antibodies to Helicobacter pylori

Marco A. Seia, Sirley V. Pereira, Carlos A. Fontán, Irma E. De Vito, Germán A. Messina, Julio Raba

Journal:

Sensors and Actuators B: Chemical

Year:

2012

Language:

english

File:

PDF, 365 KB

english, 2012

24

Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis

R Padoan, S Genoni, E Moretti, M Seia, A Giunta, C Corbetta

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 122 KB

english, 2002

25

Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns

Rita Padoan, Carlo Corbetta, Alessandra Bassotti, Manuela Seia

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 47 KB

english, 2006

26

Informativity of intragenic microsatellites for carrier detection and prenatal diagnosis of cystic fibrosis in the Italian population

C. Magnani, L. Cremonesi, E. Belloni, M. Ferrari, M. Seia, M. P. Russo, M. Devoto, P. Ronchetto, G. Romeo

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 452 KB

english, 1994

27

Feasibility of polar-body PGD for thalassemia through a model of parthenogenetic activation

A. Paffoni, V. Paracchini, S. Ferrari, C. Scarduelli, M. Seia, G. Ragni

Journal:

Fertility and Sterility

Year:

2010

Language:

english

File:

PDF, 67 KB

english, 2010

28

A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene

Anna Diana, Riccardina Tesse, Angela M. Polizzi, Teresa Santostasi, Antonio Manca, Giuseppina Leonetti, Manuela Seia, Luigi Porcaro, Luciano Cavallo

Journal:

Year:

2012

Language:

english

File:

PDF, 409 KB

english, 2012

29

Analysis of risk factors for the development of liver disease associated with cystic fibrosis

Carla Colombo, Maria Grazia Apostolo, Maurizio Ferrari, Manuela Seia, Stefania Genoni, Annamaria Giunta, Lucia Piceni Sereni

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 1.16 MB

english, 1994

30

Role of arachidonic acid metabolites in tumor growth inhibition by nonsteroidal antiinflammatory drugs

Kenneth A. Scioscia, Carl H. Snyderman, Robert Rueger, Jaya Reddy, Frank D'Amico, Seia Comsa, Bobby Collins

Journal:

American Journal of Otolaryngology

Year:

1997

Language:

english

File:

PDF, 785 KB

english, 1997

31

37. Newborn screening in cystic fibrosis: Diagnostic follow up of hypertripsinemic ΔF508 carriers

R. Levi, M. Seia, T. Mariani, P. Radaelli, C. Corbetta, R. Padoan

Journal:

The Netherlands Journal of Medicine

Year:

1999

Language:

english

File:

PDF, 18 KB

english, 1999

32

26. Genetic analysis of the CFTR gene in patients with chronic respiratory disease

M. Seia, S. Prandoni, A. Ambrosioni, A. Cantù-Rajnoldi, R. Padoan, A. Giunta, E. Madonini, A. Bossi, M. Ferrari, A. Fumagalli, N. Soriani, L. Cremonesi

Journal:

The Netherlands Journal of Medicine

Year:

1999

Language:

english

File:

PDF, 16 KB

english, 1999

33

40. Newborn screening and early treatment: Which outcomes at 5 yrs?

R. Padoan, P. Radaelli, M.C. Russo, R. Levi, C. Sforzini, C. Fredella, R.C. Moresco, M. Seia, C. Corbetta

Journal:

The Netherlands Journal of Medicine

Year:

1999

Language:

english

File:

PDF, 23 KB

english, 1999

34

Simultaneous detection of fourteen Italian cystic fibrosis mutations in seven exons by reverse dot-blot analysis

M. Rady, E. D'Alcamo, M. Seia, L. Iapichino, M. Ferrari, S. Russo, G. Romeo, A. Maggio

Journal:

Molecular and Cellular Probes

Year:

1995

Language:

english

File:

PDF, 1.10 MB

english, 1995

35

23 Differences in blood immunoreactive trypsinogen concentrations and genotype in hypertrypsinaemic neonates

M. Seia, V. Paracchini, S. Raimondi, C. Colombo, P. Capasso, L. Costantino, L. Porcaro, T. Mariani, E. Manzoni, M. Sangiovanni, C. Corbetta

Journal:

Journal of Cystic Fibrosis

Year:

2011

Language:

english

File:

PDF, 44 KB

english, 2011

36

WS14.3 Human amniotic mesenchymal stem cells can partially correct the cystic fibrosis phenotype upon coculture with F508del airway epithelial cells

A. Carbone, S. Castellani, V. Paracchini, M. Favia, A. Diana, M. Seia, S. Di Gioia, V. Casavola, C. Colombo, M. Conese

Journal:

Journal of Cystic Fibrosis

Year:

2012

Language:

english

File:

PDF, 62 KB

english, 2012

37

4 Molecular identification of complex alleles in the CFTR gene

L. Porcaro, M. Marchi, P. Capasso, M. Travi, D. Coviello, D. Degiorgio, C. Colombo, G. Romano, L. Claut, R. Padoan, M. Seia

Journal:

Journal of Cystic Fibrosis

Year:

2006

Language:

english

File:

PDF, 131 KB

english, 2006

38

490 Newborn screening and atypical CF forms

R. Padoan, M. Seia, A. Bossi, C. Corbetta

Journal:

Journal of Cystic Fibrosis

Year:

2006

Language:

english

File:

PDF, 70 KB

english, 2006

39

6* Large CFTR gene rearrangements in Italian population

V. Paracchini, L. Porcaro, L. Costantino, P. Capasso, D. Degiorgio, D. Coviello, C. Colombo, L. Claut, R. Padoan, M. Seia

Journal:

Journal of Cystic Fibrosis

Year:

2007

Language:

english

File:

PDF, 57 KB

english, 2007

40

Molecular strategy in hyperechogenic fetal bowel

V. Paracchini, D. Coviello, L. Costantino, L. Porcaro, P. Capasso, D. Degiorgio, M.C. Russo, C. Colombo, M. Seia

Journal:

Journal of Cystic Fibrosis

Year:

2008

Language:

english

File:

PDF, 58 KB

english, 2008

41

A QUALITATIVE CHARACTERIZATION OF THE CFTR GENE BY mRNA ANALYSIS

L. Costantino, V. Paracchini, L. Porcaro, M. Di Cicco, A. Monti, L. Claut, P. Capasso, D. Degiorgio, D. Coviello, C. Colombo, M. Seia

Journal:

Journal of Cystic Fibrosis

Year:

2008

Language:

english

File:

PDF, 55 KB

english, 2008

42

Cystic Fibrosis incidence in Lombardy over a seven year period

V. Paracchini, M. Seia, S. Raimondi, L. Porcaro, L. Costantino, P. Capasso, D. Degiorgio, D. Coviello, C. Colombo, T. Mariani, C. Corbetta

Journal:

Journal of Cystic Fibrosis

Year:

2009

Language:

english

File:

PDF, 60 KB

english, 2009

43

mRNA analysis of CFTR: a diagnostic approach

L. Costantino, L. Claut, V. Paracchini, D.A. Coviello, C. Colombo, L. Porcaro, P. Capasso, D. Degiorgio, M. Seia

Journal:

Journal of Cystic Fibrosis

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

44

Different algorithms for CF newborn screening (NBS): a retrospective evaluation

C. Corbetta, G. Zani, T. Mariani, M. Sangiovanni, M. Seia, R.F. Padoan

Journal:

Journal of Cystic Fibrosis

Year:

2010

Language:

english

File:

PDF, 46 KB

english, 2010

45

Parthenogenetic activation of human oocytes as a model of polar bodies PGD feasibility for CF

V. Paracchini, A. Paffoni, S. Ferrari, L. Costantino, P. Capasso, L. Porcaro, C. Colombo, D.A. Coviello, G. Ragni, M. Seia

Journal:

Journal of Cystic Fibrosis

Year:

2010

Language:

english

File:

PDF, 38 KB

english, 2010

46

An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: A multicentre study

R. Tomaiuolo, D. Degiorgio, D.A. Coviello, A. Baccarelli, A. Elce, V. Raia, V. Motta, M. Seia, G. Castaldo, C. Colombo

Journal:

Digestive and Liver Disease

Year:

2009

Language:

english

File:

PDF, 153 KB

english, 2009

47

National scientific associations should have a key role in adapting and implementing standard of care guidelines in European countries

Cesare Braggion, Francesca Alatri, Massimo Conese, Filippo Festini, Rolando Gagliardini, Valeria Raia, Manuela Seia, Giovanni Taccetti

Journal:

Journal of Cystic Fibrosis

Year:

2005

Language:

english

File:

PDF, 54 KB

english, 2005

48

CFTR mutation in an Arab patient: Clinical and functional features of 875+1G→A/875+1G→A genotype

Elide Spinelli, Manuela Seia, Paola Melotti, Eleonora Marchina, Rita Padoan

Journal:

Journal of Cystic Fibrosis

Year:

2009

Language:

english

File:

PDF, 195 KB

english, 2009

49

A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients

Lucy Costantino, Laura Claut, Valentina Paracchini, Domenico A. Coviello, Carla Colombo, Luigi Porcaro, Patrizia Capasso, Maddalena Zanardelli, Giovanna Pizzamiglio, Dario Degiorgio, Manuela Seia

Journal:

Journal of Cystic Fibrosis

Year:

2010

Language:

english

File:

PDF, 809 KB

english, 2010

50

A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis

Lucy Costantino, Damiana Rusconi, Laura Claut, Carla Colombo, Francesca Novara, Valentina Paracchini, Luigi Porcaro, Patrizia Capasso, Orsetta Zuffardi, Manuela Seia

Journal:

Journal of Cystic Fibrosis

Year:

2011

Language:

english

File:

PDF, 892 KB

english, 2011

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