Search Results - "PINCKERS, ALFRED J.L.G."

Positional cloning of the gene for X-linked retinitis pigmentosa 2 by Berger, Wolfgang, Pinckers, Alfred J.L.G, Bergen, Arthur A.B, Ropers, H.-Hilger, Fundele, Reinald, Rosenberg, Thomas, Feil, Silke, Hinzmann, Bernd, Kirschner, Renate, van Duijnhoven, Gerard, Dong, Juan, Rosenthal, André, Cremers, Frans P.M, Schwahn, Uwe, Hemberger, Myriam, Lenzner, Steffen

“…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…”
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Central areolar choroidal dystrophy associated with dominantly inherited drusen by Klevering, B Jeroen, van Driel, Marc, van Hogerwou, August J M, van de Pol, Dorien J R, Deutman, August F, Pinckers, Alfred J L G, Cremers, Frans P M, Hoyng, Carel B

“…Aim: To describe the clinical and genetic aspects of a retinal dystrophy that combines central areolar choroidal dystrophy (CACD) and autosomal dominantly…”
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Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus by Driessen, C A, Janssen, B P, Winkens, H J, Kuhlmann, L D, Van Vugt, A H, Pinckers, A J, Deutman, A F, Janssen, J J

“…Recent studies show that mutations in the gene encoding 11-cis retinol dehydrogenase are associated with fundus albipunctatus. The authors wanted to…”
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Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR by Cremers, Frans P. M., van de Pol, Dorien J. R., van Driel, Marc, den Hollander, Anneke I., van Haren, Frank J. J., Knoers, Nine V. A. M., Tijmes, Nel, Bergen, Arthur A. B., Rohrschneider, Klaus, Blankenagel, Anita, Pinckers, Alfred J. L. G., Deutman, August F., Hoyng, Carel B.

“…Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either retinitis pigmentosa (RP) or cone-rod…”
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The 2588G→C 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 by Maugeri, Alessandra, van Driel, Marc A., van de Pol, Dorien J.R., Klevering, B. Jeroen, van Haren, Frank J.J., Tijmes, Nel, Bergen, Arthur A.B., Rohrschneider, Klaus, Blankenagel, Anita, Pinckers, Alfred J.L.G., Dahl, Niklas, Brunner, Han G., Deutman, August F., Hoyng, Carel B., Cremers, Frans P.M.

“…In 40 western European patients with Stargardt disease (STGD), we found 19 novel mutations in the retina-specific ATP-binding cassette transporter ( ABCR)…”
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Positional Cloning of the Gene for X-Linked Retinitis Pigmentosa 3: Homology with the Guanine-Nucleotide-Exchange Factor RCC1 by Roepman, Ronald, van Duijnhoven, Gerard, Rosenberg, Thomas, Pinckers, Alfred J. L. G., Bleeker-Wagemakers, Liesbeth M., Bergen, Arthur A. B., Post, Jan, Beck, Alfred, Reinhardt, Richard, Ropers, Hans-Hilger, Cremers, Frans P. M., Berger, Wolfgang

“…The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X-linked RP (XLRP), has been mapped previously to a chromosome interval of less than 1000…”
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Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene by KLEVERING, B. J, VAN DRIEL, M, DE POL, D. J. R. V, PINCKERS, A. J. L. G, CREMERS, F. P. M, HOYNG, C. B

“…To describe two phenotypic variations of autosomal recessive retinal dystrophy occurring in a consanguineous family in a pseudodominant pattern, resulting from…”
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Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases by CREMERS, F. P. M, SANKILA, E.-M, DE LA CHAPELLE, A, PAWLOWITZKI, I. H, ROPERS, H.-H, BRUNSMANN, F, JAY, M, JAY, B, WRIGHT, A, PINCKERS, A. J. L. G, SCHWARTZ, M, VAN DE POL, D. J. R, WIERINGA, B

“…Making use of the p1bD5 probe (DXS165), we have isolated several markers from the choroideremia locus by chromosomal jumping, preparative field-inversion gel…”
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Anomaloscope examination in macular gliosis, macular holes and central serous choroidopathy by TILANUS, M. A. D, PINCKERS, A. J. L. G, AANDEKERK, A. L

“…Surgery for macular gliosis and macular holes has become increasingly successful with regard to anatomical outcome. Assessment of the damage to the receptors…”
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Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22 by HOLLANDER, A. I. D, VAN DER VELDE-VISSER, S. D, PINCKERS, A. J. L. G, HOYNG, C. B, BRUNNER, H. G, CREMERS, F. P. M

“…Linkage analysis was performed on a large Dutch family with autosomal dominant retinitis pigmentosa. Linkage was found to the RP17 locus on chromosome 17q22,…”
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Pattern-Reversal Visual Evoked Potentials in Patients With Epiretinal Membrane by BEMELMANS, NICOLE A.M., TILANUS, MAURITS A.D., CUYPERS, MARINUS H.M., PINCKERS, ALFRED J.L.G.

“…To determine the extent of pattern-reversal visual evoked potential parameter alteration by epiretinal membranes and to investigate the use of pattern-reversal…”
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Stable and progressive hearing loss in type 2A Usher's syndrome by van Aarem, A, Pinckers, A J, Kimberling, W J, Huygen, P L, Bleeker-Wagemakers, E M, Cremers, C W

“…Audiograms were traced or additionally performed on 23 Usher's syndrome patients in 10 Dutch multi-affected families, all linked to chromosome 1q (USH2A…”
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The Usher syndrome type 2A: clinical findings in obligate carriers by van Aarem, Annelies, Cremers, Cor W.R.J., Pinckers, Alfred J.L.G., Huygen, Patrick L.M., Hombergen, Godfried C.J.H., Kimberling, Bill J.

“…Ten obligate carriers of Usher syndrome type 2A from 5 different families with 2 affected persons all underwent audiologic, vestibular and ophthalmologic…”
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Discriminative power of visual evoked potential characteristics in multiple sclerosis by CUYPERS, M. H. M, DICKSON, K, PINCKERS, A. J. L. G, THIJSSEN, J. M, HOMMES, O. R

“…To investigate the discriminative power of pattern-reversal visual evoked potential characteristics (peak latencies and amplitude) and to test whether the…”
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Myotonic dystrophy. Predictive value of normal results on clinical examination by Brunner, H G, Smeets, H J, Nillesen, W, van Oost, B A, van den Biezenbos, J B, Joosten, E M, Pinckers, A J, Hamel, B C, Theeuwes, A G, Wieringa, B

“…Myotonic dystrophy (DM) is well known for its highly variable clinical picture, including the age at which symptoms are first detected. In order to assess the…”
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Ophthalmologic findings in Usher syndrome type 2A by Van Aarem, A, Wagenaar, M, Pinckers, A J, Huygen, P L, Bleeker-Wagemakers, E M, Kimberling, B J, Cremers, C W

“…Thirty-seven patients, comprising 24 familial cases and 13 isolated patients with Usher syndrome type II (USH2), underwent ophthalmologic examination. Based on…”
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Dominantly inherited cystoid macular edema by Deutman, A F, Pinckers, A J, Aan de Kerk, A L

“…An apparently autosomal-dominant macular dystrophy occurred in three pedigrees with the presenting signs of typical cystoid macular edema due to leaking…”
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Effect of steady hypothermia and normothermia on multimodality evoked potentials in human poikilothermia by MacKenzie, M A, Vingerhoets, D M, Colon, E J, Pinckers, A J, Notermans, S L

“…To assess the effects of steady-state spontaneous hypothermia on multimodality evoked potentials and on peripheral nerve conduction in human poikilothermia…”
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Reticular dystrophy of the retinal pigment epithelium and choroidal neovascularization A fluorescein and ICGV study by Marano, Filippo, Deutman, August F., Pinckers, Alfred J. L. G., Aandekerk, Albert L., Rijneveld, Wilhelmina J.

“… We report the clinical history of 2 patients affected with reticular dystrophy of the retinal pigment epithelium and central choroidal neovascularization…”
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X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery by Cremers, C W, Hombergen, G C, Scaf, J J, Huygen, P L, Volkers, W S, Pinckers, A J

“…Stapes gusher is a rare and usually unexpected complication of stapes surgery. This complication will inevitably be encountered during stapes surgery in all…”
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