Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Netvliesaandoeningen"'
Autor:
Carel B. Hoyng, Alfred J. L. G. Pinckers, Frans P.M. Cremers, Han G. Brunner, S.D. van der Velde-Visser, A.I. den Hollander
Publikováno v:
Human Genetics, 104, 73-76
Human Genetics, 104, pp. 73-76
Human Genetics, 104, pp. 73-76
Linkage analysis was performed on a large Dutch family with autosomal dominant retinitis pigmentosa. Linkage was found to the RP17 locus on chromosome 17q22, which was previously described in two South African families by Bardien et al. (1995, 1997).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7264432e69a6103174a996fb25bafff1
https://hdl.handle.net/2066/134230
https://hdl.handle.net/2066/134230
Autor:
M.A.D. Tilanus, August F. Deutman, Marinus H. M. Cuypers, Nicole A. M. Bemelmans, Alfred J. L. G. Pinckers
Publikováno v:
Graefe's Archive for Clinical and Experimental Ophthalmology, 237, pp. 629-635
Graefe's Archive for Clinical and Experimental Ophthalmology, 237, 629-635
Graefe's Archive for Clinical and Experimental Ophthalmology, 237, 629-635
· Objective: To describe pattern-reversal visual evoked response (PRVEP) and pattern electroretinogram (PERG) parameters in eyes with macular hole and their value for predicting postoperative visual outcome. · Methods: Prospectively we studied 27 e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f9126b9c0222b15f5edd621d55fed13
https://hdl.handle.net/2066/217220
https://hdl.handle.net/2066/217220
Autor:
G.C.F. van Duijnhoven, Uwe Schwahn, J Dong, Myriam Hemberger, André Rosenthal, B. Hinzmann, Hans-Hilger Ropers, Frans P.M. Cremers, Arthur A.B. Bergen, Renate Kirschner, Thomas Rosenberg, Reinald Fundele, Wolfgang Berger, Steffen Lenzner, Alfred J. L. G. Pinckers, Silke Feil
Publikováno v:
Nature genetics, 19(4), 327-332. Nature Publishing Group
Nature Genetics, 19, 327-332
Nature Genetics, 19, pp. 327-332
Nature Genetics, 19, 327-332
Nature Genetics, 19, pp. 327-332
X-linked retinitis pigmentosa (XLRP) results from mutations in at least two different loci, designated RP2 and RP3, located at Xp11.3 and Xp21.1, respectively. The RP3 gene was recently isolated by positional cloning, whereas the RP2 locus was mapped
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a16bb609d979b67f44fe1ac254e205e4
https://doi.org/10.1038/1214
https://doi.org/10.1038/1214
Autor:
Cremers, F.P.M., Pol, T.J.R. van de, Driel, M.A. van, Hollander, A.I. den, Haren, F.J.J. van, Knoers, N.V.A.M., Tijmes, N., Bergen, A.A.B., Rohrschneider, K., Blankenagel, A., Pinckers, A.J.L.G., Deutman, A.F., Hoyng, C.B.
Publikováno v:
Human Molecular Genetics, 7, pp. 355-362
Human Molecular Genetics, 355-362
STARTPAGE=355;ENDPAGE=362;ISSN=0964-6906;TITLE=Human Molecular Genetics
Human Molecular Genetics, 355-362
STARTPAGE=355;ENDPAGE=362;ISSN=0964-6906;TITLE=Human Molecular Genetics
Item does not contain fulltext 8 p.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c3bfd51f44f394220bf23bcaf0b79e77
https://hdl.handle.net/2066/134236
https://hdl.handle.net/2066/134236
Autor:
Carel B. Hoyng, Hannie Kremer, T.J.R. van de Pol, F. Poppelaars, August F. Deutman, Frans P.M. Cremers, Alfred J. L. G. Pinckers
Publikováno v:
Human Genetics, 98, 4, pp. 500-504
Human Genetics, 98, 500-504
Human Genetics, 98, pp. 500-504
Human Genetics, 98, 500-504
Human Genetics, 98, pp. 500-504
Stargardt disease (STGD) is one of the most frequent causes of macular degeneration in childhood. Linkage analysis in families with recessive STGD has recently shown genetic homogeneity and a location of the underlying gene at 1p22-p21 in a 4-cM inte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8bd99210b41608ba0428b8c62c1bb65
https://hdl.handle.net/2066/166848
https://hdl.handle.net/2066/166848
Publikováno v:
Graefe'S Archive for Clinical and Experimental Ophthalmology, 234, 270-274
Graefe'S Archive for Clinical and Experimental Ophthalmology, 234, 4, pp. 270-274
Graefe's Archive for Clinical and Experimental Ophthalmology, 234, pp. 270-274
Graefe's Archive for Clinical and Experimental Ophthalmology, 234, 270-274
Graefe'S Archive for Clinical and Experimental Ophthalmology, 234, 4, pp. 270-274
Graefe's Archive for Clinical and Experimental Ophthalmology, 234, pp. 270-274
Graefe's Archive for Clinical and Experimental Ophthalmology, 234, 270-274
• Background: The association of butterfly-shaped pigment dystrophy of the fovea, an uncommon inherited macular disease, with subretinal neovascularization has rarely been reported in the literature. • Case report: We describe the clinical histor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7490134d39b87d1604276d07638b641
https://hdl.handle.net/2066/23451
https://hdl.handle.net/2066/23451
Autor:
Patrick L. M. Huygen, Cor W. R. J. Cremers, Alfred J. L. G. Pinckers, A. van Aarem, William J. Kimberling, G.C.J. Hombergen
Publikováno v:
International Journal of Pediatric Otorhinolaryngology, 31, 159-174
International Journal of Pediatric Otorhinolaryngology, 31, pp. 159-174
International Journal of Pediatric Otorhinolaryngology, 31, pp. 159-174
Ten obligate carriers of Usher syndrome type 2A from 5 different families with 2 affected persons all underwent audiologic, vestibular and ophthalmologic examinations. They had a sensorineural hearing loss which was in excess of that expected for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81b2019a7e1d5a7d59c2432cc93a14a7
https://hdl.handle.net/2066/21260
https://hdl.handle.net/2066/21260
Autor:
Hamel, B.C.J., Draaisma, J.M.T., Pinckers, A.J.L.G., Boetes, C., Hoppe, R., Ropers, H.H., Brunner, H.G.
Publikováno v:
American Journal of Medical Genetics, 56, 312-316
American Journal of Medical Genetics, 56, 3, pp. 312-316
American Journal of Medical Genetics, 56, pp. 312-316
American Journal of Medical Genetics, 56, 3, pp. 312-316
American Journal of Medical Genetics, 56, pp. 312-316
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::06493a8b775c2643f0d09ea5430f7c33
https://hdl.handle.net/2066/21499
https://hdl.handle.net/2066/21499
Autor:
Lodewijk A. Sandkuijl, Alfred J. L. G. Pinckers, E. J. M. Schuurman, L. I. van den Born, G.J.B. van Ommen, E M Bleekers-Wagemakers, A. A. B. Bergen
Publikováno v:
Ophthalmic Paediatrics and Genetics, 16, 63-70
Ophthalmic Paediatrics and Genetics, 16, pp. 63-70
Ophthalmic genetics, 16(2), 63-70. Taylor and Francis Ltd.
Ophthalmic Paediatrics and Genetics, 16, pp. 63-70
Ophthalmic genetics, 16(2), 63-70. Taylor and Francis Ltd.
Linkage analysis and homogeneity tests were carried out in 15 Dutch families segregating X-linked retinitis pigmentosa (X L R P). The study included segregation data for eight polymorphic DNA markers from the short arm of the human X chromosome. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::664878594a8889a37c6b6fd0c6f2205b
https://hdl.handle.net/2066/20679
https://hdl.handle.net/2066/20679
Autor:
Wolfgang Berger, Alfred J. L. G. Pinckers, Bernd Wissinger, Felix K. Jacobi, Helene Achatz, Sten Andréasson, Carsten M. Pusch, Oliver Brandau, Alfons Meindl, Katrin Pesch, Alison J. Hardcastle, Curt Scharfe, Johannes Maurer, Christina Zeitz, Silke Feil
Publikováno v:
Nature Genetics, 26, 3, pp. 324-327
ResearcherID
Nature Genetics, 26, 324-327
ResearcherID
Nature Genetics, 26, 324-327
X-linked congenital stationary night blindness (XLCSNB) is characterized by impaired scotopic vision with associated ocular symptoms such as myopia, hyperopia, nystagmus and reduced visual acuity1. Genetic mapping in families with XLCSNB revealed two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1f03a4a0849c8cf949883394a96a303
https://pubmed.ncbi.nlm.nih.gov/11062472
https://pubmed.ncbi.nlm.nih.gov/11062472