GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases

Autor: M.A. van Driel, Gert Vriend, Jack A. M. Leunissen, Patrick Kemmeren, Koen Cuelenaere, Han G. Brunner

Publikováno v: Nucleic Acids Research
Nucleic Acids Research, 33, 2, pp. W758-61
Nucleic acids research, 33(SUPP/2), w758-w761
Europe PubMed Central
Nucleic acids research 33 (2005) SUPP/2
Nucleic Acids Research, 33, W758-61

The identification of genes underlying human genetic disorders requires the combination of data related to cytogenetic localization, phenotypes and expression patterns, to generate a list of candidate genes. In the field of human genetics, it is norm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bef1fc5f7a8f54d4badc2a2c1d53fab
https://pubmed.ncbi.nlm.nih.gov/15980578

Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization

Autor: F.P.M. Cremers, Han G. Brunner, August F. Deutman, M.A. van Driel, T.J.R. van de Pol, Carel B. Hoyng, Y.J.M. de Kok, A.I. den Hollander

Publikováno v: Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 58, pp. 240-249
Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 58, 240-249

We have constructed human cDNA libraries enriched for retina- and retinal pigment epithelium (RPE)/choroid-specific cDNAs through suppression subtractive hybridization. The sequence of 314 cDNAs from the retina enriched library and 126 cDNAs from the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b49885befc9f7e3ee64dc52a1ee23b2
https://hdl.handle.net/2066/134226

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

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

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

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

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

Model independent Jπ assignments in 38Ar from γ-ray experiments in heavy-ion induced reactions

Autor: G.A.P. Engelbertink, H.H. Eggenhuisen, M.A. Van Driel, L.P. Ekström, J.A.J. Hermans

Publikováno v: Nuclear Physics A. 272:466-492

High-spin states of 38 Ar and 35 Cl have been investigated with the 24 Mg( 16 O, 2pγ) 38 Ar and 24 Mg( 16 O, pαγ) 35 Cl reactions at beam energies of 38 and 45 MeV. The experiments consisted of γ-γ coincidence, angular distribution and linear po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ff55680970d90164233e61b008a741a1
https://doi.org/10.1016/0375-9474(76)90343-2