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

Clinical genetics, 2017-12, Vol.92 (6), p.624-631

2017

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Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization

Clinical genetics, 2006-10, Vol.70 (4), p.339-347

2006

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GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts

Human molecular genetics, 2015-12, Vol.24 (23), p.6769-6787

2015

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Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B

Clinical genetics, 2006-12, Vol.70 (6), p.532-534

2006

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Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

Orphanet journal of rare diseases, 2013-04, Vol.8 (1), p.58-58, Article 58

2013

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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Nature genetics, 2006-04, Vol.38 (4), p.452-457

2006

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Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene

British journal of dermatology (1951), 2002-09, Vol.147 (3), p.450-457

2002

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Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the Localisata variant of recessive dystrophic epidermolysis bullosa

American journal of human genetics, 1996-08, Vol.59 (2), p.292-300

1996

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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

Journal of dermatological science, 2009-03, Vol.53 (3), p.222-225

2009

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

American journal of human genetics, 2011-06, Vol.88 (6), p.767-777

2011

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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

Human mutation, 2000-09, Vol.16 (3), p.275-275

2000

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Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio

The International journal of developmental biology, 2011, Vol.55 (2), p.229

2011

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Dexamethasone‐induced healing of chronic leg ulcers in a patient with defective organization of the extracellular matrix of fibronectin

British journal of dermatology (1951), 2000-01, Vol.142 (1), p.166-170

2000

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Quantitative in situ hybridization for the evaluation of gene expression in asynchronous and synchronized cell cultures and in tissue sections

Histology and histopathology, 1999-10, Vol.14 (4), p.1231

1999

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Genotype–Phenotype Correlation in Italian Patients with Dystrophic Epidermolysis Bullosa

Journal of investigative dermatology, 2002-12, Vol.119 (6), p.1456-1462

2002

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Exclusion of candidate genes in a family with arterial tortuosity syndrome

American journal of medical genetics, 2004-04, Vol.126A (3), p.221-228

2004

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Matrix Assembly Induction and Cell Migration and Invasion Inhibition by a 13-Amino Acid Fibronectin Peptide

The Journal of biological chemistry, 2003-04, Vol.278 (16), p.14346-14355

2003

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Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen

TheScientificWorld, 2008-10, Vol.8, p.956-958

2008

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PREY–PREDATOR RELATIONSHIP BETWEEN THE CYCLOPOIDS MESOCYCLOPS LONGISETUS AND MESOCYCLOPS MERIDIANUS WITH ANOPHELES AQUASALIS LARVAE

Journal of the American Mosquito Control Association, 2007-06, Vol.23 (2), p.166-171

2007

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Human Fibroblasts with Mutations in COL5A1 and COL3A1 Genes Do Not Organize Collagens and Fibronectin in the Extracellular Matrix, Down-regulate alpha sub(2) beta sub(1) Integrin, and Recruit alpha sub(v) beta sub(3) Instead of alpha sub(5) beta sub(1) Integrin

The Journal of biological chemistry, 2004-04, Vol.279 (18), p.18157-18168

2004

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Short Report: Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization

Clinical genetics, 2006-10, Vol.70 (4), p.339-347

2006

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Alternative splicing of mGlu6 gene generates a truncated glutamate receptor in rat retina

Neuroreport, 2001-08, Vol.12 (12), p.2711-2715

2001

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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

Human mutation, 1999, Vol.13 (6), p.439-452

1999

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Dexamethasone-induced healing of chronic leg ulcers in a patient with defective organization of the extracellular matrix of fibronectin: STEROID HEALING OF LEG ULCERS

British journal of dermatology (1951), 2000-01, Vol.142 (1), p.166-170

2000

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

Cell biology international, 1998-07, Vol.22 (7-8), p.499-508

1998

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

Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts

Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene

Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the Localisata variant of recessive dystrophic epidermolysis bullosa

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

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

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

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio

Dexamethasone‐induced healing of chronic leg ulcers in a patient with defective organization of the extracellular matrix of fibronectin

Quantitative in situ hybridization for the evaluation of gene expression in asynchronous and synchronized cell cultures and in tissue sections

Genotype–Phenotype Correlation in Italian Patients with Dystrophic Epidermolysis Bullosa

Exclusion of candidate genes in a family with arterial tortuosity syndrome

Matrix Assembly Induction and Cell Migration and Invasion Inhibition by a 13-Amino Acid Fibronectin Peptide

Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen

PREY–PREDATOR RELATIONSHIP BETWEEN THE CYCLOPOIDS MESOCYCLOPS LONGISETUS AND MESOCYCLOPS MERIDIANUS WITH ANOPHELES AQUASALIS LARVAE

Human Fibroblasts with Mutations in COL5A1 and COL3A1 Genes Do Not Organize Collagens and Fibronectin in the Extracellular Matrix, Down-regulate alpha sub(2) beta sub(1) Integrin, and Recruit alpha sub(v) beta sub(3) Instead of alpha sub(5) beta sub(1) Integrin

Short Report: Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization

Alternative splicing of mGlu6 gene generates a truncated glutamate receptor in rat retina

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

Dexamethasone-induced healing of chronic leg ulcers in a patient with defective organization of the extracellular matrix of fibronectin: STEROID HEALING OF LEG ULCERS

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

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