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1

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

Guglielmina Pepe, Laura Lucarini, Rui-Zhu Zhang, Te-Cheng Pan, Betti Giusti, Susana Quijano-Roy, Corine Gartioux, Katharine M. D. Bushby, Pascale Guicheney, Mon-Li Chu

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 307 KB

english, 2006

2

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

Olga Camacho Vanegas, Rui-Zhu Zhang, Patrizia Sabatelli, Giovanna Lattanzi, Paola Bencivenga, Betti Giusti, Marta Columbaro, Mon-Li Chu, Luciano Merlini, Guglielmina Pepe

Journal:

Year:

2002

Language:

english

File:

PDF, 307 KB

english, 2002

3

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

ENRICO BERTINI, GUGLIELMINA PEPE

Journal:

European Journal of Paediatric Neurology

Year:

2002

Language:

english

File:

PDF, 100 KB

english, 2002

4

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

Eugenio Mercuri, Anne Lampe, Joanna Allsop, Ravi Knight, Marika Pane, Maria Kinali, Carsten Bonnemann, Kevin Flanigan, Ilaria Lapini, Kate Bushby, Guglielmina Pepe, Francesco Muntoni

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 315 KB

english, 2005

5

Plasma and serum levels of D-dimer and their correlations with other hemostatic parameters in pregnancy

Rita Paniccia, Domenico Prisco, Brunella Bandinelli, Sandra Fedi, Betti Giusti, Guglielmina Pepe, Rosanna Abbate

Journal:

Thrombosis Research

Year:

2002

Language:

english

File:

PDF, 82 KB

english, 2002

6

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands

Guglielmina Pepe, Enrico Bertini, Paolo Bonaldo, Kate Bushby, Betti Giusti, Marianne de Visser, Pascale Guicheney, Giovanna Lattanzi, Luciano Merlini, Francesco Muntoni, Ichizo Nishino, Ikuya Nonaka,

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 109 KB

english, 2002

7

Profile of microbial communities on carbonate stones of the medieval church of San Leonardo di Siponto (Italy) by Illumina-based deep sequencing

Chimienti, Guglielmina, Piredda, Roberta, Pepe, Gabriella, van der Werf, Inez Dorothé, Sabbatini, Luigia, Crecchio, Carmine, Ricciuti, Patrizia, D’Erchia, Anna Maria, Manzari, Caterina, Pesole, Grazia

Journal:

Applied Microbiology and Biotechnology

Year:

2016

Language:

english

File:

PDF, 1.79 MB

english, 2016

8

Multiple primary tumors of the upper aerodigestive tract: Is there a role for constitutional mutations in the p53 gene?

Oreste Gallo, Iacopo Sardi, Guglielmina Pepe, Alessandro Franchi, Monica Attanasio, Betti Giusti, Corso Bocciolini, Rosanna Abbate

Journal:

International Journal of Cancer

Year:

1999

Language:

english

File:

PDF, 229 KB

english, 1999

9

A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta

Guglielmina Pepe

Journal:

Year:

1993

Language:

english

File:

PDF, 515 KB

english, 1993

10

Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

Petr Vyletal, Jitka Sokolová, David N. Cooper, Jan P. Kraus, Michael Krawczak, Guglielmina Pepe, Olga Rickards, Hans G. Koch, Michael Linnebank, Leo A. J. Kluijtmans, Henk J. Blom, Godfried H. J. Boer

Journal:

Year:

2007

Language:

english

File:

PDF, 391 KB

english, 2007

11

A gene conversion hotspot in the human growth hormone (GH1) gene promoter

Andreas Wolf, David S. Millar, Amke Caliebe, Martin Horan, Vicky Newsway, Dorothea Kumpf, Katharina Steinmann, Ik-Seung Chee, Young-Ho Lee, Apiwat Mutirangura, Guglielmina Pepe, Olga Rickards, Jörg Sc

Journal:

Year:

2009

Language:

english

File:

PDF, 214 KB

english, 2009

12

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

P. Tsipouras, P. H. Byers, R. C. Schwartz, Mon-Li Chu, Dominique Weil, Guglielmina Pepe, Suzanne B. Cassidy, F. Ramirez

Journal:

Year:

1986

Language:

english

File:

PDF, 579 KB

english, 1986

13

Apolipoprotein(a) inhibits lipopolysaccharide-induced IL-6 secretion in human astrocytoma cell line by interfering with lipopolysaccharide signaling

Guglielmina Chimienti, Anna Mezzapesa, Grazia M. Liuzzi, Tiziana Latronico, Gabriella Pepe

Journal:

Inflammation Research

Year:

2011

Language:

english

File:

PDF, 292 KB

english, 2011

14

Inulin-enriched pasta affects lipid profile and Lp(a) concentrations in Italian young healthy male volunteers

Francesco Russo, Guglielmina Chimienti, Giuseppe Riezzo, Gabriella Pepe, Giuseppe Petrosillo, Marisa Chiloiro, Emanuele Marconi

Journal:

European Journal of Nutrition

Year:

2008

Language:

english

File:

PDF, 215 KB

english, 2008

15

A large interstitial deletion encompassing theamelogeningene on the short arm of the Y chromosome

Wanda Lattanzi, Marilena C. Di Giacomo, Gennaro M. Lenato, Guglielmina Chimienti, Gianfranco Voglino, Nicoletta Resta, Gabriella Pepe, Ginevra Guanti

Journal:

Year:

2005

Language:

english

File:

PDF, 283 KB

english, 2005

16

A homozygousCOL6A2intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy

Laura Lucarini, Betti Giusti, Rui-Zhu Zhang, Te-Cheng Pan, Cecilia Jimenez-Mallebrera, Eugenio Mercuri, Francesco Muntoni, Guglielmina Pepe, Mon-Li Chu

Journal:

Year:

2005

Language:

english

File:

PDF, 452 KB

english, 2005

17

Mutational spectrum of the CTNS gene in Italy

Mason, Silvia, Pepe, Guglielmina, Dall'Amico, Roberto, Tartaglia, Sara, Casciani, Stefania, Greco, Marcella, Bencivenga, Paola, Murer, Luisa, Rizzoni, Gianfranco, Tenconi, Romano

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 86 KB

english, 2003

18

Diastolic subclinical primary alterations in marfan syndrome and marfan-related disorders

Maria Cristina Porciani, Letizia Giurlani, Andrea Chelucci, Guglielmina Pepe, Betti Giusti, Tamara Brunelli, Monica Attanasio, Pietro Martinucci, Rossella Fattori, Rosanna Abbatea, Gian Franco Gensini

Journal:

Clinical Cardiology

Year:

2002

Language:

english

File:

PDF, 58 KB

english, 2002

19

An expanding role of biomarkers in acute aortic syndromes

Guglielmina Pepe, Betti Giusti, Magdi Yacoub

Journal:

Clinical Cardiology

Year:

2006

Language:

english

File:

PDF, 42 KB

english, 2006

20

APO(a) Variants and Lipoprotein(a) in Men with or without Myocardial Infarction

Guglielmina Chimienti, Biagia L. Lamanuzzi, Marina Nardulli, Anna M. Colacicco, Antonio Capurso, Rocco La Gioia, Domenico Scrutinio, Gabriella Pepe

Journal:

Experimental and Molecular Pathology

Year:

2002

Language:

english

File:

PDF, 111 KB

english, 2002

21

Monitoring of low-molecular-weight heparins in cardiovascular disease

Rosanna Abbate, Anna Maria Gori, Alessandro Farsi, Monica Attanasio, Guglielmina Pepe

Journal:

The American Journal of Cardiology

Year:

1998

Language:

english

File:

PDF, 56 KB

english, 1998

22

Role of platelet glycoprotein PLA1/A2 polymorphism in restenosis after percutaneous transluminal coronary angioplasty

Rosanna Abbate, Rossella Marcucci, Olga Camacho-Vanegas, Guglielmina Pepe, AnnaMaria Gori, Monia Capanni, Ignazio Simonetti, Domenico Prisco, GianFranco Gensini

Journal:

The American Journal of Cardiology

Year:

1998

Language:

english

File:

PDF, 48 KB

english, 1998

23

Muscle MRI findings in a three-generation family affected by Bethlem myopathy

EUGENIO MERCURI, CLAUDIO CINI, SERENA COUNSELL, JOANNA ALLSOP, ZUELLA ZOLKIPLI, HEINZ JUNGBLUTH, CAROLINE SEWRY, SUSAN C BROWN, GUGLIELMINA PEPE, FRANCESCO MUNTONI

Journal:

European Journal of Paediatric Neurology

Year:

2002

Language:

english

File:

PDF, 338 KB

english, 2002

24

A Heterozygous Splice Site Mutation in COL6A1 Leading to an In-Frame Deletion of the α1(VI) Collagen Chain in an Italian Family Affected by Bethlem Myopathy

Guglielmina Pepe, Betti Giusti, Enrico Bertini, Tamara Brunelli, Biagio Saitta, Paolo Comeglio, Angela Bolognese, Luciano Merlini, Giorgio Federici, Rosanna Abbate, Mon-Li Chu

Journal:

Biochemical and Biophysical Research Communications

Year:

1999

Language:

english

File:

PDF, 190 KB

english, 1999

25

The Expression Pattern of the AML1 Gene in Non-Hodgkin's B-Cell Lymphomas and Normal B Lymphocytes

Guglielmina Chimienti, Mauro Alaibac, Franco Marzullo, Antonio Carbone, Gabriella Pepe

Journal:

Blood Cells, Molecules, and Diseases

Year:

2000

Language:

english

File:

PDF, 140 KB

english, 2000

26

A Major Involvement of the Cardiovascular System in Patients Affected by Marfan Syndrome: Novel Mutations in Fibrillin 1 Gene

Guglielmina Pepe, Betti Giusti, Monica Attanasio, Paolo Comeglio, Maria Cristina Porciani, Letizia Giurlani, Gian Franco Montesi, Gian Carlo Calamai, Marino Vaccari, Silvia Favilli, Rosanna Abbate, Gi

Journal:

Journal of Molecular and Cellular Cardiology

Year:

1997

Language:

english

File:

PDF, 454 KB

english, 1997

27

A G→C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a Southern-Italian family

Guglielmina Chimienti, Antonio Capurso, Francesco Resta, Gabriella Pepe

Journal:

Biochemical and Biophysical Research Communications

Year:

1992

Language:

english

File:

PDF, 676 KB

english, 1992

28

AGT and ACE genes influence classic mitral valve prolapse predisposition in Marfan patients

Cinzia Fatini, Monica Attanasio, Cristina Porciani, Elena Sticchi, Luigi Padeletti, Ilaria Lapini, Rosanna Abbate, Gian Franco Gensini, Guglielmina Pepe

Journal:

International Journal of Cardiology

Year:

2008

Language:

english

File:

PDF, 114 KB

english, 2008

29

May TGFBR1 act also as low penetrance allele in Marfan syndrome?

Laura Lucarini, Lucia Evangelisti, Monica Attanasio, Ilaria Lapini, Francesca Chiarini, Maria Cristina Porciani, Rosanna Abbate, GianFranco Gensini, Guglielmina Pepe

Journal:

International Journal of Cardiology

Year:

2009

Language:

english

File:

PDF, 146 KB

english, 2009

30

Vascular and connective tissue features in 5 Italian patients with homocystinuria

Lucia Evangelisti, Laura Lucarini, Monica Attanasio, Maria Cristina Porciani, Eloisa Romano, Domenico Prisco, Gian Franco Gensini, Rosanna Abbate, Guglielmina Pepe

Journal:

International Journal of Cardiology

Year:

2009

Language:

english

File:

PDF, 131 KB

english, 2009

31

Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population

David S. Millar, Mark D. Lewis, Martin Horan, Vicky Newsway, D. Aled Rees, Tammy E. Easter, Guglielmina Pepe, Olga Rickards, Martin Norin, Maurice F. Scanlon, Michael Krawczak, David N. Cooper

Journal:

Molecular and Cellular Endocrinology

Year:

2008

Language:

english

File:

PDF, 339 KB

english, 2008

32

Factor II 20210 G→A Polymorphism Associated to Factor V Leiden: A Report of Two Thrombophilic Families

Domenico Prisco, Anna Maria Gori, Guglielmina Pepe, Rossella Marcucci, Tamara Brunelli, Betti Giusti, Gian Franco Gensini, Rosanna Abbate

Journal:

Thrombosis Research

Year:

1998

Language:

english

File:

PDF, 78 KB

english, 1998

33

Microheterogeneity in the Distribution of the 844ins68 in the Cystathionine β-Synthase Gene in Italy

Betti Giusti, Olga Camacho-Vanegas, Monica Attanasio, Paolo Comeglio, Anna Maria Gori, Tamara Brunelli, Domenico Prisco, Gian Franco Gensini, Rosanna Abbate, Guglielmina Pepe

Journal:

Thrombosis Research

Year:

1999

Language:

english

File:

PDF, 96 KB

english, 1999

34

Effect of Temperature and Incubation Time on D-Dimer Serum Levels in Healthy Subjects

Domenico Prisco, Rita Paniccia, Brunella Bandinelli, Agatina Alessandrello Liotta, Sandra Fedi, Betti Giusti, Guglielmina Pepe, Rosanna Abbate

Journal:

Thrombosis Research

Year:

2000

Language:

english

File:

PDF, 83 KB

english, 2000

35

Importance of dural ectasia in phenotypic assessment of M arfan's syndrome

Rossella Fattori, Christoph ANienaber, Benedetta Descovich, Paolo Ambrosetto, Letizia Bacchi Reggiani, Guglielmina Pepe, Ursula Kaufmann, Elena Negrini, Yskert von Kodolitsch, Gian Franco Gensini

Journal:

Year:

1999

Language:

english

File:

PDF, 83 KB

english, 1999

36

The C677T methylenetetrahydrofolate reductase mutation is not associated with Alzheimer's disease

Tamara Brunelli, Silvia Bagnoli, Betti Giusti, Benedetta Nacmias, Guglielmina Pepe, Sandro Sorbi, Rosanna Abbate

Journal:

Neuroscience Letters

Year:

2001

Language:

english

File:

PDF, 68 KB

english, 2001

37

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

Patrizia Sabatelli, Paolo Bonaldo, Giovanna Lattanzi, Paola Braghetta, Natascha Bergamin, Cristina Capanni, Elisabetta Mattioli, Marta Columbaro, Andrea Ognibene, Guglielmina Pepe, Enrico Bertini, Luc

Journal:

Year:

2001

Language:

english

File:

PDF, 2.42 MB

english, 2001

38

Bethlem myopathy (BETHLEM) 86th ENMC International Workshop, 10–11 November 2000, Naarden, The Netherlands

Guglielmina Pepe, Marianne de Visser, Enrico Bertini, Kate Bushby, Olga Camacho Vanegas, Mon-Li Chu, Giovanna Lattanzi, Luciano Merlini, Francesco Muntoni, Andoni Urtizberea

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 108 KB

english, 2002

39

ACE and TGFBR1 genes interact in influencing the susceptibility to abdominal aortic aneurysm

Laura Lucarini, Elena Sticchi, Francesco Sofi, Giovanni Pratesi, Carlo Pratesi, Raffaele Pulli, Gian Franco Gensini, Rosanna Abbate, Guglielmina Pepe, Cinzia Fatini

Journal:

Atherosclerosis

Year:

2009

Language:

english

File:

PDF, 116 KB

english, 2009

40

Association of Marfan syndrome and bicuspid aortic valve: Frequency and outcome

Stefano Nistri, Maria Cristina Porciani, Monica Attanasio, Rosanna Abbate, Gian Franco Gensini, Guglielmina Pepe

Journal:

International Journal of Cardiology

Year:

2012

Language:

english

File:

PDF, 73 KB

english, 2012

41

Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: Role of dural ectasia for the diagnosis

Attanasio, Monica, Pratelli, Elisa, Porciani, Maria Cristina, Evangelisti, Lucia, Torricelli, Elena, Pellicanò, Giannantonio, Abbate, Rosanna, Gensini, Gian Franco, Pepe, Guglielmina

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 490 KB

english, 2013

42

[Part 1: Biological Sciences] || RNA Processing Errors in Patients with β -thalassemia

Timothy J. Ley, Nicholas P. Anagnou, Guglielmina Pepe and Arthur W. Nienhuis

Journal:

Proceedings of the National Academy of Sciences

Year:

1982

Language:

english

File:

PDF, 1.78 MB

english, 1982

43

Restriction Fragment Length Polymorphisms of Type I Collagen Locus 2 (C0L1A2) in Two Communities of African Ancestry and Other Mixed Populations of Northwestern Ecuador

OLGA RICKARDS, CRISTINA MARTÍNEZ-LABARGA, EMILIANO TRUCCHI, FABIO RENZI, ROSA CASALOTTI, CARLA BABALINI, GIANFRANCO BIONDI, GUGLIELMINA PEPE and GIANFRANCO DE STEFANO

Journal:

Year:

2005

Language:

english

File:

PDF, 768 KB

english, 2005

44

Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome

Pepe, Guglielmina, Nistri, Stefano, Giusti, Betti, Sticchi, Elena, Attanasio, Monica, Porciani, Cristina, Abbate, Rosanna, Bonow, Robert O, Yacoub, Magdi, Gensini, Gian

Journal:

BMC Medical Genetics

Year:

2014

Language:

english

File:

PDF, 519 KB

english, 2014

45

Adipokine profile in celiac patients: differences in comparison with patients suffering from diarrhea-predominant IBS and healthy subjects

Russo, Francesco, Chimienti, Guglielmina, Clemente, Caterina, D’Attoma, Benedetta, Linsalata, Michele, Orlando, Antonella, De Carne, Massimo, Cariola, Filomena, Semeraro, Francesco P., Pepe, Gabriella

Journal:

Scandinavian Journal of Gastroenterology

Year:

2013

Language:

english

File:

PDF, 504 KB

english, 2013

46

Polymorphisms of the COL1A2 , CYP1A1 and HS1,2 Ig enhancer genes in the Tuaregs from Libya

Martinez-Labarga, Cristina, Lelli, Roberta, Tarsi, Tiziana, Babalini, Carla, Angelis, Flavio De, Ottoni, Claudio, Giambra, Vincenzo, Pepe, Guglielmina, Azebi, Ebrahim, Frezza, Domenico, Biondi, Gianfr

Journal:

Annals of Human Biology

Year:

2007

Language:

english

File:

PDF, 603 KB

english, 2007

47

Pectus Excavatum and MASS Phenotype: An Unknown Association

Tocchioni, Francesca, Ghionzoli, Marco, Pepe, Guglielmina, Messineo, Antonio

Journal:

Journal of Laparoendoscopic & Advanced Surgical Techniques

Year:

2012

Language:

english

File:

PDF, 148 KB

english, 2012

48

Plasminogen in cerebrospinal fluid originates from circulating blood

Mezzapesa, Anna, Orset, Cyrille, Plawinski, Laurent, Doeuvre, Loic, Martinez de Lizarrondo, Sara, Chimienti, Guglielmina, Vivien, Denis, Mansour, Alexandre, Matà, Sabrina, Pepe, Gabriella, Anglés-Cano

Journal:

Journal of Neuroinflammation

Year:

2014

Language:

english

File:

PDF, 1.89 MB

english, 2014

49

Fibroblast autofluorescence in connective tissue disorders: a future tool for clinical and differential diagnosis?

Monici, Monica, Basile, Venere, Romano, Giovanni, Evangelisti, Lucia, Lucarini, Laura, Attanasio, Monica, Bertini, Enrico, Fusi, Franco, Gensini, Gian Franco, Pepe, Guglielmina

Journal:

Journal of Biomedical Optics

Year:

2008

Language:

english

File:

PDF, 594 KB

english, 2008

50

Rheumatoid Arthritis

Melchiorre, Daniela, Iagnocco, Anna Maria, Acharya, Suchitra, Pepe, Guglielmina, Borderi, Marco

Journal:

Autoimmune Diseases

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013