Publications

Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity.
J Dermatol Sci 2017 Nov 22. Epub 2017 Nov 22.
Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Italy. Electronic address:



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.
Am J Med Genet A 2017 Feb 7;173(2):524-530. Epub 2016 Nov 7.
Department of Molecular and Translational Medicine, School of Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.


The nested graft acts by inducing the process of de-senescence of the fibroblasts in chronic venous ulcers.
Int Wound J 2016 Dec 19;13(6):1104-1110. Epub 2015 Mar 19.
Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, University of Brescia, Spedali Civili di Brescia, Brescia, Italy.


Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.
Am J Med Genet A 2016 Aug 5;170(8):2031-8. Epub 2016 May 5.
Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Italy.

Increased risk of venous thromboembolism in patients with bullous pemphigoid. The INVENTEP (INcidence of VENous ThromboEmbolism in bullous Pemphigoid) study.
Thromb Haemost 2016 Jan 6;115(1):193-9. Epub 2015 Aug 6.
Massimo Cugno, MD, Internal Medicine, Department of Pathophysiology and Transplantation, University of Milan, Via Pace 9, 20122 Milano, Italy, Tel.: +39 02 55036340, Fax: +39 02 50320742, E-mail:

The Use of PRISM (Pictorial Representation of Illness and Self Measure) in Patients Affected by Chronic Cutaneous Ulcers.
Adv Skin Wound Care 2015 Nov;28(11):489-94
Paola Monari, MD, is a Dermatologist, Dermatology Department, A.O. Spedali Civili, Brescia, Italy; Laura Pelizzari, is a sixth-year Medical Student, University of Brescia, Italy; Silvia Crotti, MD, is a Resident Physician, General Medicine School of Pavia, Italy; Giovanni Damiani is Resident Physician, Dermatology Department, University of Trieste, Italy; Piergiacomo Calzavara-Pinton, PhD, is Head Physician, Dermatological Department, O.A. Spedali Civili of Brescia, and Director, Dermatology School at the University of Brescia, Italy; and Giulio Gualdi, MD, is a Dermatologist, Dermatology Department, A.O. Spedali Civili, Brescia, Italy.






Profound T-cell defects in Dubowitz syndrome.
Pediatr Allergy Immunol 2014 Aug 5;25(5):511-3. Epub 2014 Jun 5.
Pediatrics Clinic and Institute for Molecular Medicine, A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Italy.

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.
BMC Med Genet 2014 Aug 28;15:91. Epub 2014 Aug 28.
Division of Biology and Genetics, Department of Molecular and Translational Medicine, Medical Faculty, University of Brescia, Viale Europa 11, Brescia 25123, Italy.










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