Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Ellen de Baar"'
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Rapid Detection of the Three Celiac Disease Risk Genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 by Multiplex Ligation-Dependent Probe Amplification
Autor: Ellen van der Zwan, Ellen de Baar, Raymon Vijzelaar, Ingrid M.W. van Hoogstraten, Wouter Kortlandt, Adriaan J. van Gammeren, Rizkat Yilmaz, Lianne Schrauwen, Alice Verheul
Publikováno v: Genetic Testing and Molecular Biomarkers, 20(3), 158-161. Mary Ann Liebert Inc.
Vijzelaar, R, van der Zwan, E, van Gammeren, A, Yilmaz, R, Verheul, A, van Hoogstraten, I, de Baar, E, Schrauwen, L & Kortlandt, W 2016, ' Rapid Detection of the Three Celiac Disease Risk Genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 by Multiplex Ligation-Dependent Probe Amplification ', Genetic Testing and Molecular Biomarkers, vol. 20, no. 3, pp. 158-161 . https://doi.org/10.1089/gtmb.2015.0233
Background: Genotyping of HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 is important in celiac disease (CD). The absence of these three genotypes has a strong negative predictive value. Methods: We designed multiplex ligation-dependent probe amplification (MLPA)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af864172d7ec5b3d8bac577cfb1ee250
https://doi.org/10.1089/gtmb.2015.0233
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3
Peutz-Jeghers syndrome: 78-year follow-up of the original family
Autor: Patrick P.C. Boor, Anne Marie Westerman, Mark M. Entius, J. H. Paul Wilson, Felix W. M. de Rooij, Dick Lindhout, G. Johan A. Offerhaus, Ellen de Baar, M. Loes F Van Velthuysen, Rita Koole
Publikováno v: Lancet (UK), 353(9160), 1211-1215. Elsevier Ltd.
Lancet, 353(9160), 1211-1215. Elsevier Limited
Summary Background The association between heredity, gastrointestinal polyposis, and mucocutaneous pigmentation in Peutz-Jeghers syndrome (PJS) was first recognised in 1921 by Peutz in a Dutch family. This original family has now been followed-up for
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df546002be0b9dfdc2a6cc7e3da9ba68
https://doi.org/10.1016/s0140-6736(98)08018-0
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4
Novel mutations in theLKB1/STK11 gene in Dutch Peutz-Jeghers families
Autor: G. Johan A. Offerhaus, J. H. Paul Wilson, Anne Marie Westerman, Patrick P.C. Boor, Rita Koole, Dicky J. J. Halley, Jan Lubinski, Mark M. Entius, Ellen de Baar, Felix W. M. de Rooij, Dick Lindhout
Publikováno v: Human mutation, 13(6), 476-481. Wiley-Liss Inc.
The Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder in which gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and a predisposition for developing cancer are transmitted in an autosomal dominant fashion. The recently id
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e9efc648a451043abaa1105a57d9b77
https://doi.org/10.1002/(sici)1098-1004(1999)13:6<476::aid-humu7>3.0.co
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6
Presence of the Hemochromatosis S65C Mutation Leads to Failure of Amplification in a Multiplex C282Y/H63D PCR
Autor: Ankie Koeken, Ellen de Baar, Christa M. Cobbaert, Lianne Schrauwen
Publikováno v: Clinical Chemistry. 53:1715-1715
Hemochromatosis is an autosomal recessive disorder of iron metabolism affecting 0.2%–0.5% of white populations. Approximately 90% of affected individuals are homozygous for the C282Y mutation, but the H63D and S65C mutations are also of interest. V
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8edd3ab5e4b4dd8b8d40f90797b4aa0e
https://doi.org/10.1373/clinchem.2007.092072
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