Zobrazeno 1 - 10
of 815
pro vyhledávání: '"M, Baiget"'
Diagnóstico de la enfermedad de CADASIL en pacientes normotensos y no diabéticos con infarto lacunar
Autor:
D. Cocho, J. Martí-Fàbregas, M. Baiget, E. Gallardo, E. Rio, A. Arboix, J. Ruscalleda, J.L. Martí-Vilalta
Publikováno v:
Neurología, Vol 26, Iss 6, Pp 325-330 (2011)
Resumen: Introducción: la enfermedad de CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) se caracteriza por isquemias cerebrales recurrentes de tipo lacunar, habitualmente en pacientes sin factores
Externí odkaz:
https://doaj.org/article/d581f0fb313e4f88a0e2b5cd1455f8da
Autor:
D. Cocho, J. Martí-Fàbregas, M. Baiget, E. Gallardo, E. Rio, A. Arboix, J. Ruscalleda, J.L. Martí-Vilalta
Publikováno v:
Neurología (English Edition), Vol 26, Iss 6, Pp 325-330 (2011)
Background: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is characterized by recurrent cerebral ischemic episodes of the lacunar subtype usually without traditional vascular risk factors. We inv
Externí odkaz:
https://doaj.org/article/800f20e7fef34d0783a9d538c96385d8
Autor:
P. Fanlo, G. Espinosa, A. Adan, A. Fonollosa, A. Segura, H. Heras, I. Ruiz-Arruza, L. Diestefano, X. Solanich, O. García, J. Artaraz, E. de Ramón-Garrido, M. Jódar-Márquez, M. Rodriguez-Carballeira, K. Mousavi, M. López-Dupla, J.A. Porras-Ledantes, E. Sole-Forteza, N. Rosello-Silvestre, M.S. Añón-Roig, M. Fernandez-Matilla, V. Chaques, C. Arroyo, A.B. Madroñero-Vuelta, L. Jimenez-Lasanta, M. Martín-Armada, C. Bueno, I. Elejalde, M. Echeverria, E. Compains, X. Solanich-Moreno, O. Garcia-Garcia, P. Garcia-Bru, P.L. Carrillo-Alascio, C. Ruiz-Nicolás, V. Llorenç, M. Mesquida, S. Eguiluz, P. Anaut, A. Larrauri, A. Gómez, J.L. Callejas-Rubio, R. Ríos-Fernández, N. Ortego-Centeno, J.L. García-Serrano, A. Castro, S. Parra, M. Baiget, J. Chara-Cervantes, S. Ayats-Vidal, N. Navarrete, A. Espejo, M.T. Herranz, M. Losada, F. Martinez-Valle, M. Blanco-Daroca, I. Aizpurua-Manso, I. Perales-Fraile, J. García-Gil de Bernabé, D. Santander-García, E. Esteban-Marcos, L. Pallares-Ferreres, J.L. Olea-Vallejo, J.M. Mateo-Poch, J.A. Aragón-Roca
Publikováno v:
Revista clinica espanola.
Objective To identify the multidisciplinary uveitis units in which internal medicine departments participate in collaboration with ophthalmology departments in Spain. Material and methods We conducted a multicentre, observational cross-sectional stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a41d08c0bbba203f115d1c8f6df79447
https://pubmed.ncbi.nlm.nih.gov/32111438
https://pubmed.ncbi.nlm.nih.gov/32111438
Publikováno v:
Revista Espanola de Enfermedades Digestivas, Vol 98, Iss 9, Pp 704-705 (2006)
Externí odkaz:
https://doaj.org/article/800d8f98c88b4d949cb8fd3ee1a5676f
Autor:
Nadia Soriani, Maurizio Ferrari, S. Bernal, M. Baiget, Laura Cremonesi, Stefania Battistella, Stefania Stenirri
Publikováno v:
European Journal of Ophthalmology. 17:749-754
PURPOSE. Among the 500 ABCA4 mutations identified so far in the retina-specific ABC transporter (ABCA4) gene, only 20 have been described in patients with autosomal recessive retinitis pigmentosa (arRP). In this study the gene was screened for mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2303c064d0e09af99b7e09b38930647
https://doi.org/10.1177/112067210701700510
https://doi.org/10.1177/112067210701700510
Publikováno v:
Ophthalmic Genetics. 21:109-115
Primary open angle glaucoma (POAG) is the second most common cause of blindness in developed countries. It is an optic neuropathy in which a degeneration of the retinal ganglion cells causes a characteristic excavation in the optic disc. Several loci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34ea328a9f4612094d0bf9a9414575b8
https://doi.org/10.1076/1381-6810(200006)21:2
https://doi.org/10.1076/1381-6810(200006)21:2
Autor:
Thomas A. Cooper, H. Jaeger, D. Furutama, M. Siciliano, Giovanni Antonini, Geneviève Gourdon, S. Michalowski, E. Eddy, R. Krahe, John W. Day, S. E. Harris, J. P. Barbet, M. Shimizu, G. B. Browne, M. Gosling, A. V. Philips, Loreto Martorell, P. Maire, Glenn E. Morris, Zeljka Korade, N. Carey, Richard R. Sinden, C. A. Thornton, A. M. Mitchell, M. Baiget, A. Balasubramanyam, L. P.W. Ranum, Shigeru Sato, M. Eriksson, T. Kobayashi, M. Khajavi, J. Mathieu, F. K. Gould, B. Eymard, D. Pribnow, R. H. Singer, J. D. Griffith, C. Liquori, M. Wagner, T. Ansved, D. E. Housman, N. Spring, A. Johansson, S. Salvatori, B. Luciano, Claudia Abbruzzese, I. Gonzales, J. Adelman, J. P. Mounsey, B. Wieringa, J. Waring, B. Perryman, D. Furling, M. Devillers, H. Furuya, F. Lehmann, H. Yamagata, M. S. Mahadevan, Darren G. Monckton, Geoffrey P. Miller, D. Hilton Jones, A. S. Lia-Baldini, J. Westerlaken, M. Swanson, S. J. Tapscott, T. R. Klesert, R. D. Wells, N. Ohsawa, H. Seznec, H. Moore, E. J. Chen, M. Hamshere, Tetsuo Ashizawa, U. Kvist, A. D. Roses, C. Junien, Catherine L Winchester, M. Gennarelli, M. Kinoshita, K. Johnson, Christopher E. Pearson, Lubov Timchenko, J. R. Moorman
Publikováno v:
Neurology. 54:1218-1221
Myotonic dystrophy (DM; OMIM 160900, also known as dystrophia myotonica, myotonia atrophica and Steinert disease) is an autosomal dominant myotonic myopathy associated with abnormalities of other organs, including eyes, heart, endocrine system, centr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::05f05337336afd1fbc3491f94730a7cf
https://doi.org/10.1212/wnl.54.6.1218
https://doi.org/10.1212/wnl.54.6.1218
Autor:
Y.-Z. Shen, M.-T. Fernández-Figueras, A. Kempinaire, R. Bergman, R. Jaswal, F. Breier, J.L. Lévêque, B. Fazaa, R. Alfonso, A. Verheyen, P.C.M. van de Kerkhof, L. Puig, H.-C. Chiu, R. Ramón, J.-P. Ortonne, M.-H. Chang, U. Hohenleutner, G.K. Bedi, U. Sass, G.B.E. Jemec, P. Dockx, M. Landthaler, R. Caputo, L. Noens, H. Gollnick, M.R. Kamoun, J. André, P. Galand, R.-J. Teng, Y. Miyachi, A.R. Lombardi, S. Verraes, A.M Layton, O. Vanhooteghem, G.E. Piérard, A. Reynaers, A. Vindevoghel, P. Gengoux, R. Friedman-Birnbaum, A. Cooper, V. Bettoli, A. Simonis, D. Roseeuw, M. Baiget, R. Carreño, P. Bruderer, C. Piérard-Franchimont, Z. Al Sarraf, S. Monstrey, C. Decaestecker, F. Purello D’Ambrosio, L. Vandenbossche, R. Feldmann, W. Stolz, H. Degreef, H. Beele, M. Aricò, P. Verplancke, P. Lorea, R. Kiss, T. Ventura-Spagnolo, J.-M. Mascaró, F. Henry, N. Nikkels-Tassoudji, K. Ongenae, G. Pravatà, M. P. De Padova, D. Touma, J.F. Silvestre, Y.-T. Lin, M. Song, M. Gniadecka, G. Noto, J.E. Arrese, W.J. Cunliffe, M. Heenen, R. Strumia, P. Duschet, H. Azzam, A. Sevila, M. Laporte, L.· Ricciardi, I. Eeckhout, D. Kopera, H. Löw-Weiser, M. Corazza, I. Salmon, M. Alegre, F. Rasquin, A. Virgili, H. De Raeve, J.M. de Moragas, A.J. Kanwar, J. Navas, B. Guarneri, J.-V. Berthe, D. Iliev, A. Morell, P. Paquet, J.J. Stene, Tsou Yau, J. Lambert, F. Gschnait, G. De Dobbeleer, M. Lowy, F. Loschiavo, S. Cavicchini, T. Simonart, N. Kiesch, Y. Yokoyama, J. Goens, D. Goldschmidt, F. Benkirane, P. Elsner, A. Shalita, S.P. Cannavò, J.M. Naeyaert, E. Altieri, G. Ghanem, O. Ishikawa, O.L. Fyrand, C. Goossens, N. Renard, J.-M. Lachapelle, L. De Raeve, E. Del Rio, A. Schelfhout, L. Boon, G.P. Thami, J.J. Leyden, A. Vandeveire
Publikováno v:
Dermatology. 194:I-V
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::130b757960812da5a576728f780d3777
https://doi.org/10.1159/000246120
https://doi.org/10.1159/000246120
Autor:
M, Álvarez-Satta, S, Castro-Sánchez, I, Pereiro, T, Piñeiro-Gallego, M, Baiget, C, Ayuso, D, Valverde
Publikováno v:
Clinical genetics. 86(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7ecb66ad05f5927da911d02dafe25d53
https://pubmed.ncbi.nlm.nih.gov/24611592
https://pubmed.ncbi.nlm.nih.gov/24611592
Autor:
Á, Venceslá, M, Baena, R P, Garrido, R, Núñez, F, Velasco, J, Rosell, A, Villar, V, Jiménez-Yuste, M, Baiget, E F, Tizzano
Publikováno v:
Haemophilia : the official journal of the World Federation of Hemophilia. 18(5)
We performed molecular analysis of the factor 8 gene (F8) in 272 unrelated Spanish patients with haemophilia A (HA) and detected a mutation by routine analysis in 267 of them (98.1%). No mutation was detected in the remaining five patients despite cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5bd5723bd4f56bbad618b79800d77109
https://pubmed.ncbi.nlm.nih.gov/22621702
https://pubmed.ncbi.nlm.nih.gov/22621702