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1

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II

Rimoldi, Valeria, Straniero, Letizia, Asselta, Rosanna, Mauri, Lucia, Manfredini, Emanuela, Penco, Silvana, Gesu, Giovanni P., Del Longo, Alessandra, Piozzi, Elena, Soldà, Giulia, Primignani, Paola

Journal:

Year:

2014

Language:

english

File:

PDF, 414 KB

english, 2014

2

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency

Asselta, Rosanna, Platè, Manuela, Robusto, Michela, Borhany, Munira, Guella, Ilaria, Soldà, Giulia, Afrasiabi, Abdolreza, Menegatti, Marzia, Tahir, Shamsi, Peyvandi, Flora, Duga, Stefano

Journal:

Thrombosis and Haemostasis

Year:

2015

Language:

english

File:

PDF, 648 KB

english, 2015

3

The discovery of Mary's mutation

R. Asselta, M. L. Tenchini, R. Holme, F. Brosstad, H. Stormorken

Journal:

Journal of Thrombosis and Haemostasis

Year:

2003

Language:

english

File:

PDF, 259 KB

english, 2003

4

Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency

Richard Van Wijk, Maria Claudia Montefusco, Stefano Duga, Rosanna Asselta, Wouter Van Solinge, Massimo Malcovati, Maria Luisa Tenchini, Pier Mannuccio Mannucci

Journal:

British Journal of Haematology

Year:

2001

Language:

english

File:

PDF, 341 KB

english, 2001

5

Performance of a new LMRPC prototype for the STAR MTD system

Y. Wang, H.S. Chen, W.C. Ding, X.Z. Qiu, J.B. Wang, X.L. Zhu, K.J. Kang, J.P. Cheng, Y.J. Li, L. Ruan, Z. Xu, K. Asselta, W. Christie, C. D'Agostino, J. Dunlop, J. Landgraf, T. Ljubicic, J. Scheblein,

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

2011

Language:

english

File:

PDF, 516 KB

english, 2011

6

Understanding the differential regulation of GBA and GBAP1 expression

Rimoldi, Valeria, Rovaris, Giulia, Straniero, Letizia, Pezzoli, Gianni, Goldwurm, Stefano, Soldà, Giulia, Asselta, Rosanna, Duga, Stefano

Journal:

Parkinsonism & Related Disorders

Year:

2016

Language:

english

File:

PDF, 55 KB

english, 2016

7

Using a Vortex To Disaggregate Platelet Clumps

Gulati, Gene L., Asselta, Amy, Chen, Conrad

Journal:

Laboratory Medicine

Year:

1997

Language:

english

File:

PDF, 16.20 MB

english, 1997

8

Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis

Straniero, Letizia, Soldà, Giulia, Costantino, Lucy, Seia, Manuela, Melotti, Paola, Colombo, Carla, Asselta, Rosanna, Duga, Stefano

Journal:

Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 553 KB

english, 2016

9

DNAJC12 and dopa-responsive non-progressive Parkinsonism

Straniero, Letizia, Guella, Ilaria, Cilia, Roberto, Parkkinen, Laura, Rimoldi, Valeria, Young, Alexander, Asselta, Rosanna, Soldà, Giulia, Sossi, Vesna, Stoessl, A. Jon, Priori, Alberto, Nishioka, Ken

Journal:

Annals of Neurology

Year:

2017

Language:

english

File:

PDF, 1.56 MB

english, 2017

10

The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease

P. M. MANNUCCI, R. ASSELTA, S. DUGA, I. GUELLA, M. SPREAFICO, L. LOTTA, P. A. MERLINI, F. PEYVANDI, S. KATHIRESAN, D. ARDISSINO

Journal:

Journal of Thrombosis and Haemostasis

Year:

2010

Language:

english

File:

PDF, 103 KB

english, 2010

11

Common variants in the haemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population :

Guella, I., Duga, S., Ardissino, D., Merlini, P. A., Peyvandi, F., Mannucci, P. M., Asselta, R.

Journal:

Thrombosis and Haemostasis

Year:

2011

Language:

english

File:

PDF, 246 KB

english, 2011

12

The intron-containing L3 ribosomal protein gene (RPL3): sequence analysis and identification of U43 and of two novel intronic small nucleolar RNAs

Stefano Duga, Rosanna Asselta, Massimo Malcovati, Maria L. Tenchini, Severino Ronchi, Tatjana Simonic

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

2000

Language:

english

File:

PDF, 415 KB

english, 2000

13

Genetic background and risk of postpartum haemorrhage: results from an Italian cohort of 3219 women

Biguzzi, E., Franchi, F., Acaia, B., Ossola, W., Nava, U., Paraboschi, E. M., Asselta, R., Peyvandi, F.

Journal:

Year:

2014

Language:

english

File:

PDF, 116 KB

english, 2014

14

Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

Costantino, Lucy, Rusconi, Damiana, Soldà, Giulia, Seia, Manuela, Paracchini, Valentina, Porcaro, Luigi, Asselta, Rosanna, Colombo, Carla, Duga, Stefano

Journal:

American Journal of Respiratory Cell and Molecular Biology

Year:

2013

Language:

english

File:

PDF, 1.16 MB

english, 2013

15

PD06-10 LIQUID BIOPSY BY PROSTATE-DERIVED TUMOR CELLS ENRICHED FROM SEMINAL FLUID (SF): THE SEMEN PROSTATE CANCER TUMOR ELEMENTS (SPECTRE) PROJECT.

Lazzeri, Massimo, Colombo, Federico, Chiereghin, Chiara, Buffi, NicolóMaria, Casale, Paolo, Hurle, Rodolfo, Saita, Alberto, Lughezzani, Giovanni, Asselta, Rosanna, Colombo, Piergiuseppe, Monterisi, Si

Journal:

The Journal of Urology

Year:

2018

Language:

english

File:

PDF, 55 KB

english, 2018

16

Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions

Paraboschi, Elvezia Maria, Cardamone, Giulia, Soldà, Giulia, Duga, Stefano, Asselta, Rosanna

Journal:

Frontiers in Genetics

Year:

2018

Language:

english

File:

PDF, 1.08 MB

english, 2018

17

Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency

Paraboschi, Elvezia, Menegatti, Marzia, Peyvandi, Flora, Duga, Stefano, Asselta, Rosanna

Journal:

International Journal of Molecular Sciences

Year:

2019

Language:

english

File:

PDF, 1.86 MB

english, 2019

18

The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease

Ilaria Guella, Giulia Soldà, Roberto Cilia, Gianni Pezzoli, Rosanna Asselta, Stefano Duga, Stefano Goldwurm

Journal:

Movement Disorders

Year:

2012

Language:

english

File:

PDF, 79 KB

english, 2012

19

Analysis of the 16S rRNA gene sequence of the coryneform bacterium associated with hyperkeratotic dermatitis of athymic nude mice and development of a PCR-based detection assay

S Duga, A Gobbi, R Asselta, L Crippa, M.L Tenchini, T Simonic, E Scanziani

Journal:

Molecular and Cellular Probes

Year:

1998

Language:

english

File:

PDF, 792 KB

english, 1998

20

Coagulation factor V

Stefano Duga, Rosanna Asselta, Maria Luisa Tenchini

Journal:

The International Journal of Biochemistry & Cell Biology

Year:

2004

Language:

english

File:

PDF, 331 KB

english, 2004

21

Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern

Dall'Osso, C., Guella, I., Duga, S., Locatelli, N., Paraboschi, E. M., Spreafico, M., Afrasiabi, A., Pechlaner, C., Peyvandi, F., Tenchini, M. L., Asselta, R.

Journal:

Year:

2008

Language:

english

File:

PDF, 337 KB

english, 2008

22

Identification of novel PD genes by whole-exome sequencing in Italian families

Straniero, Letizia, Soldà, Giulia, Asselta, Rosanna, Guella, Ilaria, Pezzoli, Gianni, Farrer, Matthew, Goldwurm, Stefano, Duga, Stefano

Journal:

Parkinsonism & Related Disorders

Year:

2016

Language:

english

File:

PDF, 47 KB

english, 2016

23

Whole Genome SNP Genotyping and Exome Sequencing Reveal Novel Genetic Variants and Putative Causative Genes in Congenital Hyperinsulinism

Proverbio, Maria Carla, Mangano, Eleonora, Gessi, Alessandra, Bordoni, Roberta, Spinelli, Roberta, Asselta, Rosanna, Valin, Paola Sogno, Di Candia, Stefania, Zamproni, Ilaria, Diceglie, Cecilia, Mora,

Journal:

Year:

2013

Language:

english

File:

PDF, 153 KB

english, 2013

24

A chromosome X-wide association study in primary biliary cholangitis allowed the identification of 5 novel susceptibility loci

Asselta, R., Paraboschi, E., Carbone, M., Gerussi, A., Ronca, V., Cristoferi, L., Malinverno, F., Duga, S., Invernizzi, P.

Journal:

Digestive and Liver Disease

Year:

2018

Language:

english

File:

PDF, 46 KB

english, 2018

25

Profiling the mutational landscape of coagulation factor V deficiency

Paraboschi, Elvezia Maria, Menegatti, Marzia, Rimoldi, Valeria, Borhany, Munira, Abdelwahab, Magy, Gemmati, Donato, Peyvandi, Flora, Duga, Stefano, Asselta, Rosanna

Journal:

Year:

2020

File:

PDF, 1.08 MB

2020

26

A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants

Straniero, Letizia, Rimoldi, Valeria, Melistaccio, Giada, Di Fonzo, Alessio, Pezzoli, Gianni, Duga, Stefano, Asselta, Rosanna

Journal:

Parkinsonism & Related Disorders

Year:

2020

File:

PDF, 1.48 MB

2020

27

Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients

Maria Solimando, Luciano Baronciani, Silvia La Marca, Giovanna Cozzi, Rosanna Asselta, Maria Teresa Canciani, Augusto B. Federici, Flora Peyvandi

Journal:

American Journal of Hematology

Year:

2012

Language:

english

File:

PDF, 840 KB

english, 2012

28

Activation of NF-κB by IL-1β blocks IL-6-induced sustained STAT3 activation and STAT3-dependent gene expression of the human γ-fibrinogen gene

Ute Albrecht, Xiangping Yang, Rosanna Asselta, Verena Keitel, Maria Luisa Tenchini, Stephan Ludwig, Peter C. Heinrich, Dieter Häussinger, Fred Schaper, Johannes G. Bode

Journal:

Cellular Signalling

Year:

2007

Language:

english

File:

PDF, 1.50 MB

english, 2007

29

No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis

Guerini, Franca R., Clerici, Mario, Cagliani, Rachele, Malhotra, Sunny, Montalban, Xavier, Forni, Diego, Agliardi, Cristina, Riva, Stefania, Caputo, Domenico, Galimberti, Daniela, Asselta, Rosanna, Fe

Journal:

Journal of Neuroimmunology

Year:

2014

Language:

english

File:

PDF, 310 KB

english, 2014

30

Missense or splicing mutation? The case of a fibrinogen B -chain mutation causing severe hypofibrinogenemia

Journal:

Year:

2004

Language:

english

File:

PDF, 184 KB

english, 2004

31

Association and Functional Analyses of MEF2A as a Susceptibility Gene for Premature Myocardial Infarction and Coronary Artery Disease

Guella, I., Rimoldi, V., Asselta, R., Ardissino, D., Francolini, M., Martinelli, N., Girelli, D., Peyvandi, F., Tubaro, M., Merlini, P. A., Mannucci, P. M., Duga, S.

Journal:

Circulation Cardiovascular Genetics

Year:

2009

Language:

english

File:

PDF, 852 KB

english, 2009

32

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

Thormaehlen, Aenne S., Schuberth, Christian, Won, Hong-Hee, Blattmann, Peter, Joggerst-Thomalla, Brigitte, Theiss, Susanne, Asselta, Rosanna, Duga, Stefano, Merlini, Pier Angelica, Ardissino, Diego, L

Journal:

Year:

2015

Language:

english

File:

PDF, 1.31 MB

english, 2015

33

A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family

Song, Jaewoo, Guella, Ilaria, Kwon, Ki-Yung, Cho, Hyunsoo, Park, Rojin, Asselta, Rosanna, Choi, Jong Rak

Journal:

Blood Coagulation & Fibrinolysis

Year:

2009

Language:

english

File:

PDF, 466 KB

english, 2009

34

Nonenzymatic Polymerization into Long Linear RNA Templated by Liquid Crystal Self-Assembly

Todisco, Marco, Fraccia, Tommaso P., Smith, Greg P., Corno, Andrea, Bethge, Lucas, Klussmann, Sven, Paraboschi, Elvezia M., Asselta, Rosanna, Colombo, Diego, Zanchetta, Giuliano, Clark, Noel A., Belli

Journal:

Year:

2018

Language:

english

File:

PDF, 4.93 MB

english, 2018

35

Obituary

Guerini, Franca R., Clerici, Mario, Cagliani, Rachele, Malhotra, Sunny, Montalban, Xavier, Forni, Diego, Agliardi, Cristina, Riva, Stefania, Caputo, Domenico, Galimberti, Daniela, Asselta, Rosanna, Fe

Journal:

Year:

1975

Language:

english

File:

PDF, 159 KB

english, 1975

36

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation

Asselta, Rosanna, Robusto, Michela, Platé, Manuela, Santoro, Cristina, Peyvandi, Flora, Duga, Stefano

Journal:

Thrombosis Research

Year:

2015

Language:

english

File:

PDF, 741 KB

english, 2015

37

Factor V Deficiency

Asselta, Rosanna, Peyvandi, Flora

Journal:

Seminars in Thrombosis and Hemostasis

Year:

2009

Language:

english

File:

PDF, 199 KB

english, 2009

38

Recurrence of the ‘deep-intronic’ FGG IVS6-320A>T mutation causing quantitative fibrinogen deficiency in the Italian population of Veneto

Platè, Manuela, Duga, Stefano, Castaman, Giancarlo, Rodeghiero, Francesco, Asselta, Rosanna

Journal:

Blood Coagulation & Fibrinolysis

Year:

2009

Language:

english

File:

PDF, 279 KB

english, 2009

39

The BRAHMS experiment at RHIC

M Adamczyk, L Antvorskov, K Ashktorab, K Asselta, E Baker, I.G Bearden, D Beavis, C Besliu, Y Blyakhman, J Brzychczyk, B Budick, H Bøggild, C Chasman, C.H Christensen, P Christiansen, J Cibor, R Debbe

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

2003

Language:

english

File:

PDF, 3.30 MB

english, 2003

40

Notch1 regulates chemotaxis and proliferation by controlling the CC-chemokine receptors 5 and 9 in T cell acute lymphoblastic leukaemia

Leonardo Mirandola, Maurizio Chiriva-Internati, Daniela Montagna, Franco Locatelli, Marco Zecca, Marco Ranzani, Andrea Basile, Massimo Locati, Everardo Cobos, W Martin Kast, Rosanna Asselta, Elvezia M

Journal:

The Journal of Pathology

Year:

2012

Language:

english

File:

PDF, 3.95 MB

english, 2012

41

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

Maria Teresa Bonati, Romina Combi, Rosanna Asselta, Stefano Duga, Massimo Malcovati, Alessandro Oldani, Marco Zucconi, Luigi Ferini-Strambi, Leda Dalprà, Maria Luisa Tenchini

Journal:

Journal of Neurology

Year:

2002

Language:

english

File:

PDF, 935 KB

english, 2002

42

Identification of Four Novel Polymorphisms in the Aα and γ Fibrinogen Genes and Analysis of Association with Plasma Levels of the Protein

Marzia Menegatti, Rosanna Asselta, Stefano Duga, Massimo Malcovati, Paolo Bucciarelli, Pier M Mannucci, Maria L Tenchini

Journal:

Thrombosis Research

Year:

2001

Language:

english

File:

PDF, 321 KB

english, 2001

43

In vitro assessment of mitral valve function in cyclically pressurized porcine hearts

Vismara, Riccardo, Leopaldi, Alberto M., Piola, Marco, Asselta, Chiara, Lemma, Massimo, Antona, Carlo, Redaelli, Alberto, van de Vosse, Frans, Rutten, Marcel, Fiore, Gianfranco B.

Journal:

Medical Engineering & Physics

Year:

2016

Language:

english

File:

PDF, 2.88 MB

english, 2016

44

Newtonian to non-Newtonian fluid transition of a model transient network

Nava, Giovanni, Tie, Yang, Vitali, Valerio, Minzioni, Paolo, Cristiani, Ilaria, Bragheri, Francesca, Osellame, Roberto, Bethge, Lucas, Klussmann, Sven, Paraboschi, Elvezia Maria, Asselta, Rosanna, Bel

Journal:

Year:

2018

Language:

english

File:

PDF, 704 KB

english, 2018

45

Analysis of factor V in zebrafish demonstrates minimal levels needed for early hemostasis

Weyand, Angela C., Grzegorski, Steve J., Rost, Megan S., Lavik, Kari I., Ferguson, Allison C., Menegatti, Marzia, Richter, Catherine E., Asselta, Rosanna, Duga, Stefano, Peyvandi, Flora, Shavit, Jorda

Journal:

Year:

2019

File:

PDF, 1.43 MB

2019

46

Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation

Asselta, Rosanna, Duga, Stefano, Simonic, Tatjana, Malcovati, Massimo, Santagostino, Elena, Giangrande, Paul L. F., Mannucci, Pier Mannuccio, Tenchini, Maria Luisa

Journal:

Year:

2000

File:

PDF, 166 KB

2000

47

Editorial: RNA Splicing and Backsplicing: Disease and Therapy

Asselta, Rosanna, Duga, Stefano, Velasco, Eladio AndrÃ©s, Buratti, Emanuele

Journal:

Frontiers in Genetics

Year:

2020

File:

PDF, 117 KB

2020

48

Factor XI deficiency in Southern Iran: identification of a novel missense mutation

Mehran Karimi, Hamta Jafari, Saba Lahsaeizadeh, Abdolreza Afrasiabi, Ahmad Akbari, Javad Dehbozorgian, Rezvan Ardeshiri, Ilaria Guella, Rosanna Asselta, Flora Peyvandi

Journal:

Annals of Hematology

Year:

2009

Language:

english

File:

PDF, 103 KB

english, 2009

49

A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker

MT Bonati, S Duga, R Asselta, L Ferini-Strambi, A Oldani, M Zucconi, M Malcovati, L Dalprà, ML Tenchini

Journal:

Molecular and Cellular Probes

Year:

2000

Language:

english

File:

PDF, 108 KB

english, 2000

50

Association of nicotine dependence susceptibility gene, CHRNA5, with Parkinson's disease age at onset: Gene and smoking status interaction

Lior Greenbaum, Amihai Rigbi, Nurit Lipshtat, Roberto Cilia, Silvana Tesei, Rosanna Asselta, Ruth Djaldetti, Stefano Goldwurm, Bernard Lerer

Journal:

Parkinsonism & Related Disorders

Year:

2013

Language:

english

File:

PDF, 213 KB

english, 2013

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