Výsledky vyhledávání - "M. I. Skraastad"

Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range

Autor: Monique Losekoot, Egbert Bakker, P. A. M. De Koning Gans, J.T. den Dunnen, M. I. Skraastad, G.J.B. van Ommen, R. D. M. Belfroid, R. A. C. Roos, K. E. De Rooij, M. Vegter-Van Der Vlis

Publikováno v: Journal of Medical Genetics. 30:996-1002

Analysis of the distribution of normal and expanded alleles of the polymorphic (CAG)n repeat in the IT15 gene in the Dutch population confirmed the presence of an expanded repeat on all Huntington's disease (HD) chromosomes. Our results show that the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16a7d95d3c6a42a45311ad55a984fa60
https://doi.org/10.1136/jmg.30.12.996

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Defining the Proximal Border of the Huntington Disease Candidate Region by Multipoint Recombination Analyses

Autor: A. Verwest, Johan T. den Dunnen, Karien E. de Rooij, Maria Vegter-van der Vlis, Pia A. M. De Koning Gans, Gert-Jan B. van Ommen, Egbert Bakker, M. I. Skraastad

Publikováno v: Genomics. 16:599-604

The candidate region for the Huntington disease (HD) gene has been narrowed down to a 2.2-Mb region between D4S10 and D4S98 on the short arm of chromosome 4. To map the HD gene within this candidate region 65 Dutch HD families were studied. In total

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a3755c8a3f4c1b071405b69839fef51
https://doi.org/10.1006/geno.1993.1236

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DNA-Testing for Huntington's disease in The Netherlands: A retrospective study on psychosocial effects

Autor: Gert-Jan B. van Ommen, Raymund A.C. Roos, M. I. Skraastad, P. G. Frets, Jacques J. P. Van Der Kamp, Harry G. M. Rooijmans, Frans Verhage, Maria Vegter-van der Vlis, Martinus F. Niermeijer, Dick Stronks, Aad Tibben

Publikováno v: American Journal of Medical Genetics. 44:94-99

Presymptomatic DNA-testing for Huntington's disease has made it possible to predict whether or not at-risk individuals are gene-carriers with a reliability of about 98%. In our retrospective study of 18 tested individuals, most of the newly identifie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6e1157d1967888ecf85f9fce1b55102
https://doi.org/10.1002/ajmg.1320440122

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The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus

Autor: Michael R. Altherr, SaraT. Winokur, Cisca Wijmenga, John J. Wasmuth, Jeffrey C. Murray, GeorgeW. Padberg, M. I. Skraastad, Rune R. Frants, Marten H. Hofker

Publikováno v: Human Genetics. 92

Facioscapulohumeral muscular dystrophy (FSHD) is a relatively common autosomal dominant neuromuscular disorder. The gene for FSHD has recently been assigned to chromosome 4q35. Although abnormal mitochondrial and biochemical changes have been observe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9b4451814b6e82643cd172bab95fb0e
https://doi.org/10.1007/bf00219692

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Significant linkage disequilibrium between the Huntington disease gene and the loci D4S10 and D4S95 in the Dutch population

Autor: M I, Skraastad, E, Van de Vosse, R, Belfroid, K, Höld, M, Vegter-van der Vlis, L A, Sandkuijl, E, Bakker, G J, van Ommen

Publikováno v: American journal of human genetics. 51(4)

Significant linkage disequilibrium has been found between the Huntington disease (HD) gene and DNA markers located around D4S95 and D4S98. The linkage-disequilibrium studies favor the proximal location of the HD gene, in contrast to the conflicting r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5154ca197c5251f0e591d829f88a6330
https://pubmed.ncbi.nlm.nih.gov/1415218

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Presymptomatic, prenatal, and exclusion testing for Huntington disease using seven closely linked DNA markers

Autor: Peter L. Pearson, Inge van Leeuwen-Cornelisse, A. Verwest, Maria Vegter-van der Vlis, Gert-Jan B. van Ommen, M. I. Skraastad, Egbert Bakker, Raymund A.C. Roos

Publikováno v: American journal of medical genetics. 39(2)

Presymptomatic testing, prenatal diagnosis, or exclusion testing are now available for persons at risk for Huntington disease. These tests will reduce uncertainty, assist in life planning, and prevent the birth of potentially affected children. We pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af94b5dd1e12537d139267cd103c1d90
https://pubmed.ncbi.nlm.nih.gov/1829584

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Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation

Autor: M H, Hofker, A A, Bergen, M I, Skraastad, N J, Carpenter, H, Veenema, J M, Connor, E, Bakker, G J, van Ommen, P L, Pearson

Publikováno v: American journal of human genetics. 40(4)

We isolated X-chromosomal DNA probes from a cosmid library constructed from a single human X/hamster hybrid-cell line (C12D). One hundred human clones were isolated and used to construct a pool of X-chromosomal DNA. This DNA was digested into 0.15-2-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5f49cf0240c369502474c1608fc1aa36
https://pubmed.ncbi.nlm.nih.gov/2883888

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Mapping of recombinants near the Huntington disease locus by using G8 (D4S10) and newly isolated markers in the D4S10 region

Autor: M I, Skraastad, E, Bakker, L F, de Lange, M, Vegter-van der Vlis, E G, Klein-Breteler, G J, van Ommen, P L, Pearson

Publikováno v: American journal of human genetics. 44(4)

Genetic linkage between the marker G8 (D4S10) and Huntington disease (HD) was studied in six Dutch pedigrees. The informativeness of the D4S10 locus was increased by isolation of a cosmid, C5.5, with a G8 subclone used as probe. We present a restrict

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::92d229c1939694c8a60c75ff67c29148
https://pubmed.ncbi.nlm.nih.gov/2564732

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