Marina Venturini

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Marina Venturini

Publications by authors named "Marina Venturini"

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48Publications

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A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

Eur J Hum Genet 2018 Apr 21;26(4):582-586. Epub 2018 Feb 21.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Brescia, Italy.

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April 2018

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

J Dermatol Sci 2018 Feb 22;89(2):201-204. Epub 2017 Nov 22.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Italy. Electronic address:

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February 2018

Cutaneous tuberculosis, a reemerging dermatologic diagnostic challenge.

G Ital Dermatol Venereol 2018 Feb 7. Epub 2018 Feb 7.

Department of Dermatology, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.

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February 2018

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

Eur J Med Genet 2018 Jan 9;61(1):17-20. Epub 2017 Oct 9.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.

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January 2018

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

Orphanet J Rare Dis 2017 09 7;12(1):153. Epub 2017 Sep 7.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy.

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September 2017

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.

PLoS One 2016 12;11(8):e0161347. Epub 2016 Aug 12.

Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Bres6cia, Italy.

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August 2017

How to improve adherence to treatment in patients with mild-to-moderate psoriasis? An expert opinion.

G Ital Dermatol Venereol 2017 Jul 11. Epub 2017 Jul 11.

Dermatology Unit, Department of Head and Neck Surgery, AOU Policlinico di Modena, Modena, Italy.

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July 2017

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.

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February 2017

Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.

Am J Med Genet A 2017 Jan 12;173(1):200-206. Epub 2016 Sep 12.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.

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January 2017

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.

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August 2016

Oral Polypodium leucomotos increases the anti-inflammatory and melanogenic responses of the skin to different modalities of sun exposures: a pilot study.

Photodermatol Photoimmunol Photomed 2016 Jan 6;32(1):22-7. Epub 2015 Nov 6.

Department of Dermatology, Spedali Civili di Brescia, University of Brescia, Brescia, Italy.

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January 2016

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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August 2014

Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing.

J Dermatol Sci 2014 Jul 18;75(1):66-8. Epub 2014 Apr 18.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Italy. Electronic address:

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July 2014

Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type.

Am J Med Genet A 2013 May 26;161A(5):1143-7. Epub 2013 Mar 26.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy.

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May 2013

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

Am J Med Genet A 2012 Sep 27;158A(9):2176-82. Epub 2012 Jul 27.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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September 2012

Photodynamic antifungal chemotherapy.

Photochem Photobiol 2012 May-Jun;88(3):512-22. Epub 2012 Mar 1.

Department of Dermatology, University of Brescia, Brescia, Italy.

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August 2012

Narrowband ultraviolet B phototherapy is a suitable treatment option for solar urticaria.

J Am Acad Dermatol 2012 Jul 26;67(1):e5-9. Epub 2011 May 26.

Department of Dermatology, Spedali Civili Hospital, Brescia, Italy.

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July 2012

Oral administration of a hydrophilic extract of Polypodium leucotomos for the prevention of polymorphic light eruption.

J Am Acad Dermatol 2012 Jan 22;66(1):58-62. Epub 2011 Jun 22.

Department of Dermatology, Medical University of Vienna, Vienna, Austria.

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January 2012

Local angioedema following sun exposures: a report of five cases.

Int Arch Allergy Immunol 2010 20;153(3):315-20. Epub 2010 May 20.

Department of Dermatology, Spedali Civili Hospital, Brescia, Italy.

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November 2010

Reflectance confocal microscopy for the in vivo detection of Treponema pallidum in skin lesions of secondary syphilis.

J Am Acad Dermatol 2009 Apr;60(4):639-42

Department of Dermatology, University of Brescia, Spedali Civili Hospital, Brescia, Italy.

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April 2009

Reflectance confocal microscopy for in vivo skin imaging.

Photochem Photobiol 2008 Nov-Dec;84(6):1421-30

Department of Dermatology, University of Brescia, Brescia, Italy.

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February 2009

Allergic contact dermatitis from nickel in a piezoelectrical device for mosquito bites ('Click').

Contact Dermatitis 2008 Apr;58(4):249-50

Department of Dermatology, Azienda Ospedaliera Spedali Civili, 25123 Brescia, Italy.

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April 2008

Wegener's granulomatosis of the penis: genital presentation of systemic disease.

Dermatology 2006 ;212(4):370-2

Department of Dermatology, Azienda Spedali Civili di Brescia, Brescia, Italy.

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November 2006

Cinnarizine is a useful and well-tolerated drug in the treatment of acquired cold urticaria (ACU).

Eur J Dermatol 2003 Jan-Feb;13(1):54-6

Clinical Immunology and Allergology Department, Brescia University School of Medicine, Azienda Ospedaliera Spedali Civili, Piazzale Spedali Civili, Italy.

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June 2003