Výsledky vyhledávání - "R. Van Den Bogaard"

Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22

Autor: J. M. de Pater, G. H. Schuring-Blom, C. J. M. van der Sijs-Bos, N. J. Leschot, G. C. M. L. Christiaens, R. Van Den Bogaard, Ph. Stoutenbeek

Publikováno v: Prenatal Diagnosis, 17, 81-86. John Wiley and Sons Ltd
Prenatal diagnosis, 17(1), 81-86. John Wiley and Sons Ltd

SUMMARY We report on a case of generalized mosaicism for trisomy 22. At chorionic villus sampling (CVS) in the 37th week of pregnancy, a 47,XX,+22 karyotype was detected in all cells. The indication for CVS was severe unexplained symmetrical intraute

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a545d8a7a164959f9de6da0ce916ad9b
https://doi.org/10.1002/(sici)1097-0223(199701)17:1<81::aid-pd29>3.0.co

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An Integrated Physical Map of 210 Markers Assigned to the Short Arm of Human Chromosome 11

Autor: Marcel M.A.M. Mannens, Alasdair C. Ivens, Linda M. Kalikin, Peter Little, Andrew P. Feinberg, Simon G. Gregory, C.J.A. van Moorsel, R. Van Den Bogaard, Jet Bliek, R. van der Voort, Andries Westerveld, L. de Galan, Egbert J.W. Redeker, Jan M.N. Hoovers, Marielle Alders, J. Visser

Publikováno v: Genomics, 21(3), 538-550. Academic Press Inc.

Using a panel of patient cell lines with chromosomal breakpoints, we constructed a physical map for the short arm of human chromosome 11. We focused on 11p15, a chromosome band harboring at least 25 known genes and associated with the Beckwith-Wiedem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f6438d1e53c4df016517686658d4672
https://doi.org/10.1006/geno.1994.1312

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A novel polymorphic GATA site in the human IL-12Rbeta2 promoter region affects transcriptional activity

Autor: René E. Jonkers, R. Van Den Bogaard, A. van Veen, Eddy A. Wierenga, Robert Westland, T.C.T.M. (Tineke) van der Pouw Kraan, J.G.I. van Rietschoten, M.A. Nieste-Otter, M.T. den Hartog

Publikováno v: Tissue antigens, 63(6), 538-546. Wiley-Blackwell

Interleukin-12 (IL-12) is a potent inducer of interferon-gamma production by T cells and is a major factor for the development of T-helper 1 (Th1) cells. It exerts its biological effects through binding to the IL-12 receptor (IL-12R), a heterodimer c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9578fb00f08a2aeabfd224a8bec91e3c
https://pubmed.ncbi.nlm.nih.gov/15140029

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Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography

Autor: C.E.M. de Die-Smulders, B.J.C. van den Bosch, R. van den Bogaard, J.G. Nijland, H.J.M. Smeets, M. de Visser, Hans R. Scholte, R.F.M. de Coo

Publikováno v: Nucleic Acids Research, 28(20), E89 1-8. Oxford University Press
Nucleic acids research, 28(20). Oxford University Press
Scopus-Elsevier

In patients with mitochondrial disease a continuously increasing number of mitochondrial DNA (mtDNA) mutations and polymorphisms have been identified. Most pathogenic mtDNA mutations are heteroplasmic, resulting in heteroduplexes after PCR amplificat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9fbc7d13a0e028b31877d9308241581
https://pubmed.ncbi.nlm.nih.gov/11024191

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Properdin deficiency: molecular basis and disease association

Autor: Anders G. Sjöholm, Fredrikson G. Nordin, Jacob Dankert, Marcel M.A.M. Mannens, Ed J. Kuijper, R. Van Den Bogaard, Mohamed R. Daha, C. A. P. Fijen, M. Schlesinger, Lennart Truedsson, M.G.J. Schipper

Publikováno v: Molecular immunology, 36(13-14), 863-867. Elsevier Limited

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91e147679b0d12126dc3996fdbb06b6e
https://pure.amc.nl/en/publications/properdin-deficiency-molecular-basis-and-disease-association(6c63b5ca-a247-4963-9c4a-a5e5e1b357ff).html

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Carrier detection by microsatellite haplotyping in 10 properdin type 1-deficient families

Autor: Ed J. Kuijper, R. Van Den Bogaard, Jacob Dankert, C. A. P. Fijen, Marcel M.A.M. Mannens, M. R. Daha

Publikováno v: European journal of clinical investigation, 26(10), 902-906. Wiley-Blackwell
Scopus-Elsevier

Properdin deficiency carrier identification is relevant, because properdin-deficient persons have an increased risk of contracting meningococcal disease. Vaccination against meningococcal disease at a young age may provide protection. Accurate detect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30b074692c45bafc8ea18c71c7cf5ba8
https://pubmed.ncbi.nlm.nih.gov/8911864

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