✦ LIBER ✦

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

✍ Scribed by Drera, Bruno; Zoppi, Nicoletta; Ritelli, Marco; Barlati, Sergio; Colombi, Marina; Tadini, Gianluca; Venturini, Marina; Calzavara-Pinton, Piergiacomo; Wischmeijer, Anita; Nicolazzi, Maria Anna; Musumeci, Alfredo; Penco, Silvana; Buscemi, Loredana; Crivelli, Sara; Danesino, Cesare; Clementi, Maurizio; Viglio, Simona; Valli, Maurizia

Book ID: 119293782
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 450 KB
Volume: 64
Category: Article
ISSN: 0923-1811
DOI: 10.1016/j.jdermsci.2011.09.002

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Erratum to “Letter to the Editor – Diagn

Erratum to “Letter to the Editor – Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations” [J. Dermatol. Sci. 64 (2011) 237–248]

✍ Drera, Bruno; Zoppi, Nicoletta; Ritelli, Marco; Tadini, Gianluca; Venturini, Mar 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 93 KB

Ehlers-Danlos syndrome, vascular type: A

Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene

✍ Masuno, Mitsuo; Watanabe, Atsushi; Naing, Banyar Than; Shimada, Takashi; Fujimot 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 1021 KB

COL3A1 Gene Mutation Predicts Arterial I

COL3A1 Gene Mutation Predicts Arterial Involvement and Prognosis in Vascular Ehlers Danlos Syndrome

✍ Shalhub, Sherene; McDonnel, Nazli; Cecchi, Alana C.; Azizzadeh, Ali; Charlton-Ou 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 74 KB

Geometric and elastic properties of the

Geometric and elastic properties of the common carotid artery in vascular Ehlers-Danlos Syndrome patients with identified COL3A1 mutations

✍ K.T. Ong; S. Laurent; J. Perdu; H. Plauchu; D. Germain; P. Collignon; G. Georges 📂 Article 📅 2008 🏛 Atlantis Press 🌐 English ⚖ 54 KB

Clinical and molecular characterization

Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18COL5A1and 2COL5A2novel mutations

✍ Marco Ritelli, Chiara Dordoni, Marina Venturini… 📂 Article 📅 2013 🏛 BioMed Central 🌐 English ⚖ 659 KB

Haploinsufficiency for One COL3A1 Allele

Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV

✍ Ulrike Schwarze; Wouter I. Schievink; Elizabeth Petty; Michael R. Jaff; Dusica B 📂 Article 📅 2001 🏛 American Society of Human Genetics 🌐 English ⚖ 558 KB