Výsledky vyhledávání - "E. J. M. Schuurman"

Multipoint linkage analysis and soneogeneity tests in 15 Dutch X-linked retinitis pigmentosa families

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.

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

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Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning

Autor: Egbert Bakker, P.J. Diergaarde, E. M. Bleeker-Wagemakers, E. J. M. Schuurman, Arthur A.B. Bergen, H. Lerach, Martin C. Wapenaar, G.J.B. van Ommen, Anthony P. Monaco

Publikováno v: Cytogenetic and Genome Research. 62:231-235

Differential Alu PCR fingerprint cloning was used to isolate a DNA probe from the Xp 11.4→p11.21 region of the human X chromosome. This novel sequence, cpXr318 (DXS742), detects a new submicroscopic deletion interval at the Norrie disease locus (ND

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::39d78d036fae32ddb7e648d1f3c5291a
https://doi.org/10.1159/000133484

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Nance-Horan syndrome: linkage analysis in a family from The Netherlands

Autor: E. J. M. Schuurman, A. A. B. Bergen, E.M. Bleeker-Wagemakers, J.B. ten Brink

Publikováno v: Genomics, 21(1), 238-240. Academic Press Inc.

Linkage analysis was carried out in a Dutch family with Nance-Horan (NH) syndrome. Close linkage without recombination between NH and the Xp loci DXS207, DXS43, and DXS365 ( z max = 3.23) was observed. Multipoint linkage analysis and the analysis of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::933328bc7bd0d68f3dfc2e634550663a
https://pure.amc.nl/en/publications/nancehoran-syndrome-linkage-analysis-in-a-family-from-the-netherlands(3e0e9212-6cb1-4ebb-ae6d-bc832e28dcb2).html

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Refinement of the localization of the X-linked ocular albinism gene

Autor: E. J. M. Schuurman, E. M. Bleeker-Wagemakers, Arthur A.B. Bergen, P. Zijp, P. Apkarian, G.J.B. van Ommen

Publikováno v: Genomics, 16(1), 272-273. Academic Press Inc.

Although physical and genetic mapping studies assigned the X-linked ocular albinism gene to Xp22.3, the exact gene order in this region is still unclear. We present additional genetic mapping data concerning X-linked ocular albinism that suggests the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57ed57ee8da254216325c522bfaf6963
https://pure.amc.nl/en/publications/refinement-of-the-localization-of-the-xlinked-ocular-albinism-gene(70dd0873-7483-412c-b5bd-47869a7708f3).html

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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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Additional Evidence for a Gene Locus for Progressive Cone Dystrophy with Late Rod Involvement in Xp21.1-p11.3

Autor: E. J. M. Schuurman, Françoise Meire, J. W. Delleman, A. A. B. Bergen, G.J.B. van Ommen, J.B. ten Brink

Publikováno v: Genomics, 18(2), 463-464. Academic Press Inc.

X-linked progressive cone dystrophy (XLPCD) is a rare hereditary eye disorder characterized by disturbed cone ERG, abnormal color vision, loss of visual acuity, and photophobia. Linkage analysis in only two XLPCD families has been described previousl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c8803db7372345c86532c5213ae9f9
https://doi.org/10.1006/geno.1993.1504

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