Search Results - "Sbalchiero, Anna"

Endoglin and Systemic Sclerosis: A PRISMA-driven systematic review by Grignaschi, Silvia, Sbalchiero, Anna, Spinozzi, Giuseppe, Palermo, Bianca Lucia, Cantarini, Claudia, Nardiello, Chantal, Cavagna, Lorenzo, Olivieri, Carla

“…BackgroundSystemic Sclerosis (SSc) is a rare autoimmune disease whose pathogenesis is still poorly understood. The Transforming Growth Factor β superfamily is…”
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Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago by Sbalchiero, Anna, Abu Hweij, Yasmin, Mazza, Tommaso, Buscarini, Elisabetta, Scotti, Claudia, Pagella, Fabio, Manfredi, Guido, Matti, Elina, Spinozzi, Giuseppe, Olivieri, Carla

“…Background Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder, affecting 1:5000 individuals worldwide. All the genes…”
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Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1 by DeMille, Desiree, McDonald, Jamie, Bernabeu, Carmelo, Racher, Hilary, Olivieri, Carla, Cantarini, Claudia, Sbalchiero, Anna, Thompson, Bryony A., Jovine, Luca, Shovlin, Claire L., Dupuis-Girod, Sophie, Lesca, Gaetan, Tusseau, Maud, Ganguly, Arupa, Kasthuri, Raj S., Jessen, Jaime, Massink, Maarten P. G., Ichikawa, Shoji, Bayrak-Toydemir, Pinar

“…The 2015 ACMG/AMP standards and guidelines for interpretation of sequence variants are widely used by laboratories, including for variant curation of the…”
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