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Bruno Drera

Bruno Drera,Università degli Studi di Brescia,Genetics & Genealogy,Dermatology,Diseases

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Bruno Drera

Università degli Studi di Brescia

Publications: 12 | Citations: 31

Fields: Genetics & Genealogy, Dermatology, Diseases

Collaborated with 41 co-authors from 2006 to 2011 | Cited by 165 authors

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Publications (12)

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Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations

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Journal: Journal of Dermatological Science - J DERMATOLOGICAL SCI , vol. 64, no. 3, pp. 237-240, 2011

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients (Citations: 4)

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Journal: Orphanet Journal of Rare Diseases - ORPHANET J RARE DIS , vol. 4, no. 1, pp. 24-5, 2009

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa (Citations: 1)

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Journal: Journal of Dermatological Science - J DERMATOLOGICAL SCI , vol. 53, no. 3, pp. 222-225, 2009

Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa (Citations: 1)

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Journal: British Journal of Dermatology - BRIT J DERMATOL , vol. 161, no. 2, pp. 464-467, 2009

Arterial tortuosity syndrome in two Italian paediatric patients

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Journal: Orphanet Journal of Rare Diseases - ORPHANET J RARE DIS , vol. 4, no. 1, pp. 20-4, 2009

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Citations (31 times by 28 publications)

Clinical features and genetic analysis of Korean patients with Loeys–Dietz syndrome

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Journal: Journal of Human Genetics - J HUM GENET , vol. 57, no. 1, pp. 52-56, 2012

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

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Journal: Nature Genetics - NAT GENET , vol. 43, no. 4, pp. 365-369, 2011

COL7A1 Recessive Mutations in Two Siblings with Distinct Subtypes of Dystrophic Epidermolysis Bullosa: Pruriginosa versus Nails Only

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Journal: Dermatology , vol. 222, pp. 10-14, 2011

Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys–Dietz syndrome fibroblasts: a possible treatment?

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Journal: European Journal of Human Genetics - EUR J HUMAN GENET , vol. 19, no. 6, pp. 624-633, 2011

SLC2A10 genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. SLC2A10 and PAD in type 2 diabetes (Citations: 1)

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Journal: BMC Medical Genetics - BMC MED GENET , vol. 11, no. 1, pp. 126-7, 2010

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Co-authors (41)

Journals (6)

Keywords (23)

Bruno Drera,Università degli Studi di Brescia,Genetics & Genealogy,Dermatology,Diseases

Publications (12)

BibTeX | RIS | RefWorks Download

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients (Citations: 4)

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa (Citations: 1)

Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa (Citations: 1)

Arterial tortuosity syndrome in two Italian paediatric patients

Citations (31 times by 28 publications)

Clinical features and genetic analysis of Korean patients with Loeys–Dietz syndrome

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

COL7A1 Recessive Mutations in Two Siblings with Distinct Subtypes of Dystrophic Epidermolysis Bullosa: Pruriginosa versus Nails Only

Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys–Dietz syndrome fibroblasts: a possible treatment?

SLC2A10 genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. SLC2A10 and PAD in type 2 diabetes (Citations: 1)


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Bruno Drera,Università degli Studi di Brescia,Genetics & Genealogy,Dermatology,Diseases

Publications (12) BibTeX | RIS | RefWorks Download

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients (Citations: 4)

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa (Citations: 1)

Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa (Citations: 1)

SLC2A10 genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. SLC2A10 and PAD in type 2 diabetes (Citations: 1)

Publications (12)

BibTeX | RIS | RefWorks Download