Search Results - "Drera, B"

Brain ultrasound in Canavan disease by Drera, B., Poggiani, C.

“…Canavan disease ( MIM 271900 ) is a rare autosomal recessive leukodystrophy due to mutations in the ASPA gene ( MIM 608034 ) and characterized by a clinical…”
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Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype by Drera, B, Tadini, G, Barlati, S, Colombi, M

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Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization by Drera, B, Castiglia, D, Zoppi, N, Gardella, R, Tadini, G, Floriddia, G, De Luca, N, Pedicelli, C, Barlati, S, Zambruno, G, Colombi, M

“…Dystrophic epidermolysis bullosa (DEB) pruriginosa (DEB‐Pr) is a rare variant of DEB due to COL7A1 dominant and recessive mutations, which is characterized by…”
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Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa by Drera, B., Floriddia, G., Forzano, F., Barlati, S., Zambruno, G., Colombi, M., Castiglia, D.

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De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma by Drera, B, Tadini, G, Balbo, F, Marchese, L, Barlati, S, Colombi, M

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Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B by Drera, B, Zoppi, N, Barlati, S, Colombi, M

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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 by Drera, B, Ritelli, M, Tadini, G, Zoppi, N, Venturini, M, Calzavara-Pinton, P.G, Barlati, S, Colombi, M

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Mutations in TGFBR2 gene cause spontaneous cervical artery dissection by Pezzini, Alessandro, Drera, Bruno, Del Zotto, Elisabetta, Ritelli, Marco, Carletti, Monica, Tomelleri, Gianpaolo, Bovi, Paolo, Giossi, Alessia, Volonghi, Irene, Costa, Paolo, Magoni, Mauro, Padovani, Alessandro, Barlati, Sergio, Colombi, Marina

“…Mutations in the genes encoding transforming growth factor β receptors 1 and 2 (TGFBR1 and TGFBR2) have recently been associated with hereditary connective…”
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Short Report: Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization by Drera, B, Castiglia, D, Zoppi, N, Gardella, R, Tadini, G, Floriddia, G, De Luca, N, Pedicelli, C, Barlati, S, Zambruno, G, Colombi, M

“…Drera B, Castiglia D, Zoppi N, Gardella R, Tadini G, Floriddia G, De Luca N, Pedicelli C, Barlati S, Zambruno G, Colombi M. Dystrophic epidermolysis bullosa…”
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Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype by Drera, B, Tadini, G, Barlati, S, Colombi, M

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Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B by Drera, B, Zoppi, N, Barlati, S, Colombi, M

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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 by Drera, B, Ritelli, M, Tadini, G, Zoppi, N, Venturini, M, Calzavara-Pinton, P G, Barlati, S, Colombi, M

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