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1

Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach

Marco Castori, Silvia Morlino, Claudia Celletti, Mauro Celli, Aldo Morrone, Marina Colombi, Filippo Camerota, Paola Grammatico

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 537 KB

english, 2012

2

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders

Colombi, Marina, Dordoni, Chiara, Chiarelli, Nicola, Ritelli, Marco

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.02 MB

english, 2015

3

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts

Chiarelli, Nicola, Carini, Giulia, Zoppi, Nicoletta, Ritelli, Marco, Colombi, Marina, Dettman, Robert W.

Journal:

Year:

2019

File:

PDF, 2.85 MB

2019

4

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

Ritelli, Marco, Venturini, Marina, Cinquina, Valeria, Chiarelli, Nicola, Colombi, Marina

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 5.81 MB

2020

5

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients

Colombi, Marina, Dordoni, Chiara, Venturini, Marina, Ciaccio, Claudia, Morlino, Silvia, Chiarelli, Nicola, Zanca, Arianna, Calzavara-Pinton, Piergiacomo, Zoppi, Nicoletta, Castori, Marco, Ritelli, Mar

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.36 MB

english, 2017

6

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi, Marina Colombi, Reginald E. Bittner, Susana Quijano-Roy, Francesco Muntoni, Sebahattin Cirak, Gudrun Schreiber,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.34 MB

english, 2012

7

Arterial tortuosity syndrome in two Italian paediatric patients

Marco Ritelli, Bruno Drera, Mariano Vicchio, Giovanni Puppini, Paolo Biban, Mara Pilati, Maria Antonia Prioli, Sergio Barlati, Marina Colombi

Journal:

Orphanet Journal of Rare Diseases

Year:

2009

Language:

english

File:

PDF, 852 KB

english, 2009

8

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

Bruno Drera, Marco Ritelli, Nicoletta Zoppi, Anita Wischmeijer, Maria Gnoli, Rossella Fattori, Pier Giacomo Calzavara-Pinton, Sergio Barlati, Marina Colombi

Journal:

Orphanet Journal of Rare Diseases

Year:

2009

Language:

english

File:

PDF, 712 KB

english, 2009

9

Recurring and Generalized Visceroptosis in Ehlers-Danlos Syndrome Hypermobility Type

Dordoni, Chiara, Ritelli, Marco, Venturini, Marina, Chiarelli, Nicola, Pezzani, Lidia, Vascellaro, Annalisa, Calzavara-Pinton, Piergiacomo, Colombi, Marina

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.65 MB

english, 2013

10

Generalized joint hypermobility, joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type

Castori, Marco, Colombi, Marina

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2015

Language:

english

File:

PDF, 951 KB

english, 2015

11

Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome

Porter, Louise F., Gallego-Pinazo, Roberto, Keeling, Catherine L., Kamieniorz, Martyna, Zoppi, Nicoletta, Colombi, Marina, Giunta, Cecilia, Bonshek, Richard, Manson, Forbes D., Black, Graeme C.

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 2.17 MB

english, 2015

12

Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes

Cazzato, Daniele, Castori, Marco, Lombardi, Raffaella, Caravello, Francesca, Bella, Eleonora Dalla, Petrucci, Antonio, Grammatico, Paola, Dordoni, Chiara, Colombi, Marina, Lauria, Giuseppe

Journal:

Year:

2016

Language:

english

File:

PDF, 297 KB

english, 2016

13

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1 : Report on a three-generation family without cardiovascular events, and literature review

Colombi, Marina, Dordoni, Chiara, Venturini, Marina, Zanca, Arianna, Calzavara-Pinton, Piergiacomo, Ritelli, Marco

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 517 KB

english, 2016

14

Ehlers-Danlos syndrome, classical type

Bowen, Jessica M., Sobey, Glenda J., Burrows, Nigel P., Colombi, Marina, Lavallee, Mark E., Malfait, Fransiska, Francomano, Clair A.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2017

Language:

english

File:

PDF, 420 KB

english, 2017

15

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing

Colombi, Marina, Dordoni, Chiara, Cinquina, Valeria, Venturini, Marina, Ritelli, Marco

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.97 MB

english, 2017

16

Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity

Dordoni, Chiara, Gatti, Marta, Venturini, Marina, Zanca, Arianna, Cinquina, Valeria, Santoro, Graziano, Battocchio, Simonetta, Calzavara-Pinton, Piergiacomo, Ritelli, Marco, Colombi, Marina

Journal:

Journal of Dermatological Science

Year:

2017

Language:

english

File:

PDF, 1.15 MB

english, 2017

17

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome

Ritelli, Marco, Dordoni, Chiara, Cinquina, Valeria, Venturini, Marina, Calzavara-Pinton, Piergiacomo, Colombi, Marina

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 1.32 MB

english, 2017

18

Skeletal fragility: an emerging complication of Ehlers–Danlos syndrome

Formenti, Anna Maria, Doga, Mauro, Frara, Stefano, Ritelli, Marco, Colombi, Marina, Banfi, Giuseppe, Giustina, Andrea

Journal:

Endocrine (Springer)

Year:

2018

Language:

english

File:

PDF, 463 KB

english, 2018

19

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

Angwin, Chloe, Brady, Angela F., Colombi, Marina, Ferguson, David J. P., Pollitt, Rebecca, Pope, F. Michael, Ritelli, Marco, Symoens, Sofie, Ghali, Neeti, van Dijk, Fleur S.

Journal:

Year:

2019

Language:

english

File:

PDF, 1.34 MB

english, 2019

20

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

Rymen, Daisy, Ritelli, Marco, Zoppi, Nicoletta, Cinquina, Valeria, Giunta, Cecilia, Rohrbach, Marianne, Colombi, Marina

Journal:

Year:

2019

Language:

english

File:

PDF, 1.83 MB

english, 2019

21

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical EhlersâDanlos syndrome: The importance of phenotypeâguided genetic testing

Ritelli, Marco, Cinquina, Valeria, Venturini, Marina, Colombi, Marina

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 1.00 MB

2020

22

Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts

Rita Gardella, Nicoletta Zoppi, Sergio Ferraboli, Dario Marini, Gianluca Tadini, Sergio Barlati, Marina Colombi

Journal:

Year:

1999

Language:

english

File:

PDF, 557 KB

english, 1999

23

A -96C→T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa

Rita Gardella, Sergio Barlati, Nicoletta Zoppi, Gianluca Tadini, Marina Colombi

Journal:

Year:

2000

Language:

english

File:

PDF, 157 KB

english, 2000

24

Exclusion of candidate genes in a family with arterial tortuosity syndrome

Rita Gardella, Nicoletta Zoppi, Deodato Assanelli, Maria Lorenza Muiesan, Sergio Barlati, Marina Colombi

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 264 KB

english, 2004

25

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome

Bruno Drera, Andrea Guala, Nicoletta Zoppi, Rita Gardella, Piergiorgio Franceschini, Sergio Barlati, Marina Colombi

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 139 KB

english, 2007

26

Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome

Marco Castori, Michele Valiante, Marco Ritelli, Nicoletta Preziosi, Marina Colombi, Mauro Paradisi, Paola Grammatico

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 147 KB

english, 2010

27

Assay of urinary α-fluoro-β-alanine by gas chromatography–mass spectrometry for the biological monitoring of occupational exposure to 5-fluorouracil in oncology nurses and pharmacy technicians

Federico Maria Rubino, Cinzia Verduci, Marina Buratti, Silvia Fustinoni, Laura Campo, Emanuela Omodeo-Salè, Margherita Giglio, Sergio Iavicoli, Gabri Brambilla, Antonio Colombi

Journal:

Biomedical Chromatography

Year:

2006

Language:

english

File:

PDF, 164 KB

english, 2006

28

Polyurethane foam chips combined with liquid chromatography in the determination of unmetabolized polycyclic aromatic hydrocarbons excreted in human urine

Marina Buratti, Oronzo Pellegrino, Carla Valla, Federico Maria Rubino, Cinzia Verduci, Antonio Colombi

Journal:

Biomedical Chromatography

Year:

2006

Language:

english

File:

PDF, 101 KB

english, 2006

29

Study of fibronectin mRNA in human laryngeal and ectocervical carcinomas by IN SITU hybridization and image analysis

Laura Moro, Marina Colombi, Maria Pia Molinari Tosatti, Sergio Barlati

Journal:

International Journal of Cancer

Year:

1992

Language:

english

File:

PDF, 1.56 MB

english, 1992

30

RT-PCR detection of fibronectin EDA+ and EDB+ mRNA isoforms: Molecular markers for hepatocellular carcinoma

Daniela Tavian, Giuseppina De Petro, Marina Colombi, Nazario Portolani, Stefano Maria Giulini, Rita Gardella, Sergio Barlati

Journal:

International Journal of Cancer

Year:

1994

Language:

english

File:

PDF, 1.19 MB

english, 1994

31

The type III-9 repeat of human fibronectin is encoded by a single exon which is not alternatively spliced.

Rita Gardella, Sergio Barlati, Sergio Ferraboli, Marina Colombi

Journal:

Cell Biology International

Year:

1993

File:

PDF, 235 KB

1993

32

Correction of the defective extracellular matrix of Ehlers-Danlos syndrome skin fibroblasts by dexamethasone.

Laura Moro, Marina Colombi, Nicoletta Zoppi, Annalisa Ghinelli, Sergio Barlati

Journal:

Cell Biology International

Year:

1994

File:

PDF, 770 KB

1994

33

EFFECT OF DEXAMETHASONE ON THE ASSEMBLY OF THE MATRIX OF FIBRONECTIN AND ON ITS RECEPTORS ORGANIZATION IN EHLERS-DANLOS SYNDROME SKIN FIBROBLASTS

NICOLETTA ZOPPI, ANNALISA GHINELLI, RITA GARDELLA, SERGIO BARLATI, MARINA COLOMBI

Journal:

Cell Biology International

Year:

1998

Language:

english

File:

PDF, 317 KB

english, 1998

34

Corrigendum to “A biofunctional polymeric coating for microcantilever molecular recognition” [Anal. Chim. Acta 630 (2008) 161–167]

Giulio Oliviero, Paolo Bergese, Giancarlo Canavese, Marcella Chiari, Paolo Colombi, Marina Cretich, Francesco Damin, Sonia Fiorilli, Simone L. Marasso, Carlo Ricciardi, Paola Rivolo, Laura E. Depero

Journal:

Analytica Chimica Acta

Year:

2009

Language:

english

File:

PDF, 80 KB

english, 2009

35

Gas chromatography–electron-capture detection of urinary methylhippuric acid isomers as biomarkers of environmental exposure to xylene

Marina Buratti, Oronzo Pellegrino, Carla Valla, Silvia Fustinoni, Gabriella Brambilla, Antonio Colombi

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1999

Language:

english

File:

PDF, 204 KB

english, 1999

36

Headspace solid-phase microextraction for the determination of benzene, toluene, ethylbenzene and xylenes in urine

Silvia Fustinoni, Rosario Giampiccolo, Salvatore Pulvirenti, Marina Buratti, Antonio Colombi

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1999

Language:

english

File:

PDF, 203 KB

english, 1999

37

Genotype-Phenotype Correlation in Italian Patients with Dystrophic Epidermolysis Bullosa

Gardella, Rita, Castiglia, Daniele, Posteraro, Patrizia, Bernardini, Silvia, Zoppi, Nicoletta, Paradisi, Mauro, Tadini, Gianluca, Barlati, Sergio, McGrath, John A, Zambruno, Giovanna, Colombi, Marina

Journal:

The Journal of Investigative Dermatology

Year:

2002

Language:

english

File:

PDF, 829 KB

english, 2002

38

Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia

Marina Colombi, Rita Gardella, Nicoletta Zoppi, Laura Moro, Dario Marini, Nigel K. Spurr, Sergio Barlati

Journal:

Year:

1992

Language:

english

File:

PDF, 911 KB

english, 1992

39

Human fibronectin gene (FN1) RFLPs: Mapping and linkage disequilibrium analysis

Rita Gardella, Marina Colombi, Sergio Barlati

Journal:

Year:

1993

Language:

english

File:

PDF, 386 KB

english, 1993

40

A biofunctional polymeric coating for microcantilever molecular recognition

Giulio Oliviero, Paolo Bergese, Giancarlo Canavese, Marcella Chiari, Paolo Colombi, Marina Cretich, Francesco Damin, Sonia Fiorilli, Simone L. Marasso, Carlo Ricciardi, Paola Rivolo, Laura E. Depero

Journal:

Analytica Chimica Acta

Year:

2008

Language:

english

File:

PDF, 720 KB

english, 2008

41

Rescue of Migratory Defects of Ehlers–Danlos Syndrome Fibroblasts In Vitro by Type V Collagen but not Insulin-Like Binding Protein-1

Viglio, Simona, Zoppi, Nicoletta, Sangalli, Antonella, Gallanti, Angelo, Barlati, Sergio, Mottes, Monica, Colombi, Marina, Valli, Maurizia

Journal:

The Journal of Investigative Dermatology

Year:

2008

Language:

english

File:

PDF, 3.48 MB

english, 2008

42

Spontaneous coronary artery dissection in a young woman with Loeys–Dietz syndrome

Rossella Fattori, Pietro Sangiorgio, Elisabetta Mariucci, Marco Ritelli, Anita Wischmeijer, Cristiano Greco, Marina Colombi

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 99 KB

english, 2012

43

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene

Marco Castori, Marco Ritelli, Nicoletta Zoppi, Luisa Molisso, Nicola Chiarelli, Fulvio Zaccagna, Paola Grammatico, Marina Colombi

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 505 KB

english, 2012

44

The FN13 peptide inhibits human tumor cells invasion through the modulation of αvβ3 integrins organization and the inactivation of ILK pathway

Nicoletta Zoppi, Marco Ritelli, Alessandro Salvi, Marina Colombi, Sergio Barlati

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2007

Language:

english

File:

PDF, 2.17 MB

english, 2007

45

FAK-independent αvβ3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts

Nicoletta Zoppi, Sergio Barlati, Marina Colombi

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2008

Language:

english

File:

PDF, 3.60 MB

english, 2008

46

The use of S-phenylmercapturic acid as a biomarker in molecular epidemiology studies of benzene

Peter B. Farmer, Balvinder Kaur, Jonathan Roach, Len Levy, Dario Consonni, Pietro A. Bertazzi, Angela Pesatori, Silvia Fustinoni, Marina Buratti, Matteo Bonzini, Antonio Colombi, Todor Popov, Domenico

Journal:

Chemico-Biological Interactions

Year:

2005

Language:

english

File:

PDF, 87 KB

english, 2005

47

Urinary t,t-muconic acid, S-phenylmercapturic acid and benzene as biomarkers of low benzene exposure

Silvia Fustinoni, Marina Buratti, Laura Campo, Antonio Colombi, Dario Consonni, Angela C. Pesatori, Matteo Bonzini, Peter Farmer, Seymour Garte, Federico Valerio, Domenico F. Merlo, Pier A. Bertazzi

Journal:

Chemico-Biological Interactions

Year:

2005

Language:

english

File:

PDF, 68 KB

english, 2005

48

Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome hypermobility type) in 82 Italian patients

Marco Castori, Silvia Morlino, Chiara Dordoni, Claudia Celletti, Filippo Camerota, Marco Ritelli, Aldo Morrone, Marina Venturini, Paola Grammatico, Marina Colombi

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 109 KB

english, 2012

49

Determination of aluminium in body fluids by solvent extraction and atomic absorption spectroscopy with electrothermal atomization

Marina Buratti, Giuseppe Caravelli, Giuseppa Calzaferri, Antonio Colombi

Journal:

Clinica Chimica Acta

Year:

1984

Language:

english

File:

PDF, 400 KB

english, 1984

50

Sensitive determination of urinary vanadium by solvent extraction and atomic absorption spectroscopy

Marina Buratti, Oronzo Pellegrino, Giuseppe Caravelli, Giuseppa Calzaferri, Maurizio Bettinelli, Antonio Colombi, Marco Maroni

Journal:

Clinica Chimica Acta

Year:

1985

Language:

english

File:

PDF, 366 KB

english, 1985