Výsledky vyhledávání - "D. B. Van Dorp"

Autor: D. B. van Dorp

Publikováno v: Clinical Genetics. 31:228-242

After a 4-year multidisciplinary study of albinism our findings will be presented here. Over a hundred albinos were examined, together with their heterozygote family members. Given this substantial patient and subject sample we were provided with the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::252470ee6a3f7ca0ab4b574a4ec3398a
https://doi.org/10.1111/j.1399-0004.1987.tb02801.x

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Åland eye disease: no albino misrouting

Autor: Aldur W. Eriksson, D. B. van Dorp, A.Th.M. van Balen, H. Collewijn, A. G. M. van Vliet, J.W. Delleman, H. Forsius

Publikováno v: Clinical Genetics. 28:526-531

Electrophysiological studies showed that a patient with Aland eye disease had no misrouting of the optic pathways which is always found in all forms of albinism as a consequence of the retino-geniculate anomaly. Also the spontaneous and optokinetic n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c87d5340995e316c163d19b8fa9fb8d
https://doi.org/10.1111/j.1399-0004.1985.tb00421.x

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Tuberous sclerosis Diagnostic problems in a family

Autor: D. B. van Dorp, M. L. Kwee

Publikováno v: Ophthalmic Paediatrics and Genetics. 11:95-101

This paper describes a family in which the first child, a girl born in 1988, has tuberous sclerosis (TS). The 28-year-old mother had no symptoms of TS but at ocular examination she presented with progressively increasing prominence of the optic nerve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e710ca679cf85e88855f6b81dfe3cf9e
https://doi.org/10.3109/13816819009012953

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The Hermansky-Pudlak syndrome: Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time

Autor: P. W. Wijermans, F Meire, G Vrensen, D. B. Van Dorp

Publikováno v: Ophthalmic Paediatrics and Genetics. 11:237-244

The effect of the synthetic vasopressin derivative 1-desamino-8D-arginine vasopressin (DDAVP = Minrin) on bleeding time was studied in nine patients with Hermansky-Pudlak syndrome; four of them were Dutch, five were Belgian. Shortening of bleeding ti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bea97f4491f415a7b2ac9390f1f9716
https://doi.org/10.3109/13816819009020985

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Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features

Autor: I, Kluijt, D B, van Dorp, M L, Kwee, A, Toutain, K, Keppler-Noreuil, M, Warburg, P, Bitoun

Publikováno v: Ophthalmic genetics. 21(1)

Six cases of Kabuki syndrome (KS) with ocular anomalies are reported and the variety of ocular features reported in the literature for this syndrome is described. Routine ocular examinations are recommended for every patient with KS because of the hi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a0686f424dbdbc0bb75802c2562f8cbf
https://pubmed.ncbi.nlm.nih.gov/10779849

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Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)

Autor: K L, Dry, F D, Manson, A, Lennon, A A, Bergen, D B, Van Dorp, A F, Wright

Publikováno v: Human mutation. 13(2)

We have identified a novel RPGR gene mutation in a large Dutch family with X-linked retinitis pigmentosa (RP3). In affected members, a G--T transversion was found at position +1 of the 5' splice site of intron 5 of the RPGR (retinitis pigmentosa GTPa

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https://pubmed.ncbi.nlm.nih.gov/10094550

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Linkage analysis in X-linked congenital stationary night blindness

Autor: Marcelle Jay, F. E. Pryde, A F Wright, A C Bird, P. W. Teague, L. J. Hardwick, D. M. Sharp, K. L. Dry, Douglas H. Lester, M A Aldred, Barrie Jay, D. B. Van Dorp, J. Brown

Publikováno v: Genomics. 14(1)

X-linked congenital stationary night blindness (XL-CSNB) is a nonprogressive disorder of the retina, characterized by night blindness, reduced visual acuity, and myopia. Previous studies have localized the CSNB1 locus to the region between OTC and TI

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https://pubmed.ncbi.nlm.nih.gov/1427834

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Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis

Autor: C. Samanns, G.J.B. van Ommen, Egbert Bakker, Andreas Gal, E. J. M. Schuurman, E.M. Bleeker-Wagemakers, Alfred J. L. G. Pinckers, L. I. van den Born, A. A. B. Bergen, D. B. Van Dorp

Publikováno v: Clinical genetics, 41(3), 135-138. Wiley-Blackwell

X-linked ocular albinism (XOA) is characterized by anomalies of the eyes and hypopigmentation or absence of pigment in skin, hair and eyes due to a hereditary inborn error of metabolism affecting the pigment cells. The gene of XOA of the Nettleship-F

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a418d7ead2b0e1e724a66821c684b89e
https://pubmed.ncbi.nlm.nih.gov/1348665

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A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities

Autor: E. M. Bleeker-Wagemakers, A F Wright, Andrew D. Carothers, D. B. Van Dorp

Publikováno v: Human genetics. 88(3)

The results of linkage analysis in a family with X-linked retinitis pigmentosa (XLRP) are presented. Probe M27B (DXS255), localized to Xp11.22, was only loosely linked to XLRP, whereas pHOC3 (OTC), in the more distal Xp21.1 region, was tightly linked

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https://pubmed.ncbi.nlm.nih.gov/1733835

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