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of 29
pro vyhledávání: '"N. Tijmes"'
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Autor:
J. Swart, Martien Limburg, N. Tijmes, Raoul C.M. Hennekam, Peter M. Steijlen, J.S.P. van den Berg, Johannes R.M. Cruysberg
Publikováno v:
Cerebrovascular Diseases, 10, pp. 315-319
Cerebrovascular diseases (Basel, Switzerland), 10(4), 315-319. S. Karger AG
Cerebrovascular Diseases, 10, 315-319
Cerebrovascular diseases (Basel, Switzerland), 10(4), 315-319. S. Karger AG
Cerebrovascular Diseases, 10, 315-319
Background: Pseudoxanthoma elasticum (PXE) is an heritable connective tissue disorder with clinical manifestations of the ocular, dermal, and cardiovascular system. The purpose of this study was to investigate the prevalence of symptomatic intracrani
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f6c257084a6022adf249d585ea7f35a
https://doi.org/10.1159/000016076
https://doi.org/10.1159/000016076
Publikováno v:
Neurology, 59(10), 1536-1540. Lippincott Williams and Wilkins
Objective: To examine the relation between retinal artery disease and cerebral small-vessel disease (SVD). Methods: In a prospective cohort of patients with symptomatic atherosclerotic disease, the authors performed retinal photographs and brain MRI.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b0dd1c3bd1563b73af3338a8e0f3be
https://pure.amc.nl/en/publications/retinal-arterial-changes-correlate-with-cerebral-smallvessel-disease(3efb1457-bb7b-465e-8bf9-0d5039fe87d9).html
https://pure.amc.nl/en/publications/retinal-arterial-changes-correlate-with-cerebral-smallvessel-disease(3efb1457-bb7b-465e-8bf9-0d5039fe87d9).html
Autor:
Klaus Rohrschneider, B.J. Klevering, Frans P.M. Cremers, Han G. Brunner, August F. Deutman, Alfred J. L. G. Pinckers, Alessandra Maugeri, Niklas Dahl, A. Blankenagel, M.A. van Driel, Carel B. Hoyng, T.J.R. van de Pol, A. A. B. Bergen, N. Tijmes, F.J.J. van Haren
Publikováno v:
American journal of human genetics, 64(4), 1024-1035. Cell Press
American Journal of Human Genetics, 64, 1024-1035
American Journal of Human Genetics, 64, pp. 1024-1035
American Journal of Human Genetics, 64, 1024-1035
American Journal of Human Genetics, 64, pp. 1024-1035
In 40 western European patients with Stargardt disease (STGD), we found 19 novel mutations in the retina-specific ATP-binding cassette transporter (ABCR) gene, illustrating STGD's high allelic heterogeneity. One mutation, 2588G-->C, identified in 15
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e0740e73674b3afdccfc8d64fddeb9f
https://pure.amc.nl/en/publications/the-2588gc-mutation-in-the-abcr-gene-is-a-mild-frequent-founder-mutation-in-the-western-european-population-and-allows-the-classification-of-abcr-mutations-in-patients-with-stargardt-disease(4a414acf-659e-4bcf-a7ba-74587c8305d2).html
https://pure.amc.nl/en/publications/the-2588gc-mutation-in-the-abcr-gene-is-a-mild-frequent-founder-mutation-in-the-western-european-population-and-allows-the-classification-of-abcr-mutations-in-patients-with-stargardt-disease(4a414acf-659e-4bcf-a7ba-74587c8305d2).html
Autor:
Caraline L. Coats, André Hanauer, Ulrich Kellner, E.J.M. Schuurman, Niklas Dahl, Beate Niesler, N. Tijmes, Susannah M. Walpole, Ute Schulz, Anne Rantala, S.A. Gaythor, A.M. Bardelli, Eugenio Montini, G.J.B. van Ommen, Christina L. McHenry, C. Oudet, A. Blankenagel, J.E. Richards, H.G. Brunner, Andrea Ballabio, E. van de Vosse, P.T.V.M. de Jong, J.T. Dendunnen, Carmen Ayuso, E.L. Bingham, L Huopaniemi, Gudrun A. Rappold, K. Ruether, Thomas Rosenberg, Vera M. Kalscheuer, V. Ventruto, Paul A. Sieving, Arthur A.B. Bergen, Hanno J. Bolz, Ulrike Orth, T. Kraayenbrink, D. Pimenides, M.J. van Schooneveld, Andreas Gal, Alan F. Wright, N.D.L. George, Grazia Andolfi, F.J. Diaz, Brunella Franco, H.H. Ropers, Silke Feil, John R.W. Yates, Wolfgang Berger, Tiina Alitalo, Alfred J. L. G. Pinckers, A. dela Chapelle, U.T. Moore, J. Kaplan, Dorothy Trump, Steffen Lenzner, Pierre Bitoun, A. Nicolaou, K.T. Hiriyana, Hemant Pawar, T. Darga, J.B. ten Brink
Publikováno v:
Human molecular genetics, 7(7), 1185-1192. Oxford University Press
Human Molecular Genetics, 7(7), 1185-1192. Oxford University Press
Human Molecular Genetics, 7(7), 1185-1192. Oxford University Press
X-linked retinoschisis (XLRS) is the most common cause of juvenile macular degeneration in males, resulting in vision loss early in life. The gene involved in XLRS was identified recently. It encodes a protein with a disoidin domain, suggested to be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5f0fd99a148b526ec431d89cab82bed
https://pure.amc.nl/en/publications/functional-implications-of-the-spectrum-of-mutations-found-in-234-cases-with-xlinked-juvenile-retinoschisis-xlrs(1e0da310-81f1-413d-914c-b73a21b1a089).html
https://pure.amc.nl/en/publications/functional-implications-of-the-spectrum-of-mutations-found-in-234-cases-with-xlinked-juvenile-retinoschisis-xlrs(1e0da310-81f1-413d-914c-b73a21b1a089).html
Autor:
M.A. van Driel, Arthur A.B. Bergen, Carel B. Hoyng, A. Blankenagel, T.J.R. van de Pol, Alfred J. L. G. Pinckers, August F. Deutman, Klaus Rohrschneider, F.P.M. Cremers, A.I. den Hollander, N. Tijmes, F.J.J. van Haren, Nine V A M Knoers
Publikováno v:
Human molecular genetics, 7(3), 355-362. Oxford University Press
Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either retinitis pigmentosa (RP) or cone-rod dystrophy (CRD). Assuming pseudodominant (recessive) inheritance of allelic defects, linkag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da217248f09e0af0f7d3cf028aa50491
https://pubmed.ncbi.nlm.nih.gov/9466990
https://pubmed.ncbi.nlm.nih.gov/9466990
Autor:
E. VAN DE VOSSE, P. VAN DER BRENT, E. MONTINI, U. ORTH, A. HANAUER, N. TIJMES, GJ VAN OMMEN, BALLABIO, ANDREA, JT DEN DUNNEN, AA BERGEN, FRANCO, BRUNELLA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::2aace5d6c2f223a867d0884960d536fd
http://hdl.handle.net/11588/143891
http://hdl.handle.net/11588/143891
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Akademický článek
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Akademický článek
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