Zobrazeno 1 - 10
of 10
pro vyhledávání: '"G. M. Lenato"'
Autor:
C. L. Shovlin, C. M. Millar, F. Droege, A. Kjeldsen, G. Manfredi, P. Suppressa, S. Ugolini, N. Coote, A. D. Fialla, U. Geisthoff, G. M. Lenato, H. J. Mager, F. Pagella, M. C. Post, C. Sabbà, U. Sure, P. M. Torring, S. Dupuis-Girod, E. Buscarini, VASCERN-HHT
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular dysplasia resulting in visceral arteriovenous malformations and smaller mucocutaneous telangiectasia. Most patients experience recurrent nosebleeds and become anemic w
Externí odkaz:
https://doaj.org/article/d71578396d96461388812ee10de55b6b
Autor:
P, Lastella, C, Sabbà, G M, Lenato, N, Resta, W, Lattanzi, M, Gallitelli, A, Cirulli, G, Guanti
Publikováno v:
Clinical genetics. 63(6)
Autosomal-dominant hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous disease caused by mutations in at least two different loci. We screened for mutations in four Italian families where segregation studies showed clear evide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a4c0550d245aeeec4f4564a0b00e7722
https://pubmed.ncbi.nlm.nih.gov/12786761
https://pubmed.ncbi.nlm.nih.gov/12786761
Autor:
Chen, Lili, Qiu, Rongyan, Wang, Bixia, Liu, Jinxiu, Li, Xiuli, Hou, Zhaoyi, Wu, Tingting, Cao, Huizhen, Ji, Xinli, Zhang, Ping, Zhang, Yuping, Xue, Mianxiang, Qiu, Linlin, Wang, Linlin, Wei, Yongbao, Chen, Mingfeng
Publikováno v:
Food & Function; 5/21/2024, Vol. 15 Issue 10, p5343-5351, 9p
Autor:
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., Shoji Ichikawa, Bayrak-Toydemir, Pinar
Publikováno v:
Human Mutation; 5/18/2024, Vol. 2024, p1-13, 13p
Publikováno v:
Case Reports in Gastrointestinal Medicine. 6/30/2021, p1-4. 4p.
Autor:
Hu, Yuanyuan1, Smith, Charles E.1,2, Cai, Zhonghou3, Donnelly, Lorenza A. ‐ J.1, Yang, Jie1,4, Hu, Jan C. ‐ C.1, Simmer, James P.1 jsimmer@umich.edu
Publikováno v:
Molecular Genetics & Genomic Medicine. Nov2016, Vol. 4 Issue 6, p641-661. 21p.
Autor:
Shovlin, C. L.1 (AUTHOR) c.shovlin@imperial.ac.uk, Millar, C. M.2 (AUTHOR), Droege, F.3 (AUTHOR), Kjeldsen, A.4 (AUTHOR), Manfredi, G.5 (AUTHOR), Suppressa, P.6 (AUTHOR), Ugolini, S.7 (AUTHOR), Coote, N.1 (AUTHOR), Fialla, A. D.4 (AUTHOR), Geisthoff, U.3 (AUTHOR), Lenato, G. M.6 (AUTHOR), Mager, H. J.8 (AUTHOR), Pagella, F.7 (AUTHOR), Post, M. C.8 (AUTHOR), Sabbà, C.6 (AUTHOR), Sure, U.3 (AUTHOR), Torring, P. M.4 (AUTHOR), Dupuis-Girod, S.9 (AUTHOR), Buscarini, E.5 (AUTHOR), VASCERN-HHT (CORPORATE AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 8/28/2019, Vol. 14 Issue 1, pN.PAG-N.PAG. 1p.
Autor:
Candelli, Marcello, Pompili, Maurizio, Suppressa, Patrizia, Lenato, Gennaro, Bosco, Giulia, Rapaccini, Gian, Gasbarrini, Antonio, Scardapane, Arnaldo, Sabbà, Carlo
Publikováno v:
Internal & Emergency Medicine; Aug2012, Vol. 7 Issue 4, p323-329, 7p
Autor:
Lattanz, Wanda, Di Giacomo, Marilena, Lenato, Gennaro, Chimienti, Guglielmina, Voglino, Gianfranco, Resta, Nicoletta, Pepe, Gabriella, Guanti, Ginevra
Publikováno v:
Human Genetics; Apr2005, Vol. 116 Issue 5, p395-401, 7p
Publikováno v:
Clinical Genetics; Jun2003, Vol. 63 Issue 6, p543-555, 13p