Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Mark M. Entius"'
Publikováno v:
The journal of molecular diagnostics
Multiple osteochondromas (MO) is an autosomal-dominant skeletal disorder characterized by the formation of multiple cartilage-capped protuberances. MO is genetically heterogeneous and is associated with mutations in the EXT1 and EXT2 genes. In this s
Autor:
Pieter A. Doevendans, Irene M. van Langen, Marcel M.A.M. Mannens, Ans C.P. Wiesfeld, Roselie Jongbloed, Arthur A.M. Wilde, Luz-Maria Rodriguez, Mark M. Entius, Ludolf G. Boven, Isabelle C. Van Gelder, Richard N.W. Hauer, J. Peter van Tintelen, Zahurul A. Bhuiyan, Luuk C. Otterspoor, Robert M. W. Hofstra, Jasper J. van der Smagt
Publikováno v:
Circulation, 113(13), 1650-1658. Lippincott Williams and Wilkins
Circulation, 113(13), 1650-1658. LIPPINCOTT WILLIAMS & WILKINS
Circulation, 113(13), 1650-1658. LIPPINCOTT WILLIAMS & WILKINS
Background— Mutations in the plakophilin-2 gene ( PKP2 ) have been found in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC). Hence, genetic screening can potentially be a valuable tool in the diagnostic workup of pati
Autor:
Charles J. Yeo, Michael Goggins, Manu C. Shekher, Ravi K. Bansal, Gloria H. Su, Mark M. Entius, Anne Marie Westerman, David J. Tang, Ralph H. Hruban, Scott E. Kern, G. Steven Bova
Publikováno v:
The American Journal of Pathology. 154:1835-1840
Peutz-Jeghers syndrome (PJS) is an autosomal-dominant disorder characterized by hamartomatous polyps in the gastrointestinal tract and by pigmented macules of the lips, buccal mucosa, and digits. Less appreciated is the fact that PJS also predisposes
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
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
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
Autor:
Anja C. Prosperi, Mark M. Entius, Egija Zaura, Chi L. Pham, Jacob M. ten Cate, Zewdu Terefework, Abdellatif Errami, Rob J.M. van Spanning, Wim Crielaard
Publikováno v:
Journal of Microbiological Methods, 75, 558-565. Elsevier
Journal of Microbiological Methods, 75(3), 558-565. Elsevier
Terefework, Z, Pham, C I, Prosperi, A C, Entius, M M, Errami, A, van Spanning, R J M, Zaura, E, ten Cate, J M & Crielaard, W 2008, ' MLPA diagnostics of complex microbial communities. Relative quantification of bacterial species in oral biofilms. ', Journal of Microbiological Methods, vol. 75, pp. 558-565 . https://doi.org/10.1016/j.mimet.2008.08.012
Terefework, Z, Pham, C L, Prosperi, A C, Entius, M M, Errami, A, van Spanning, R J M, Zaura, E, ten Cate, J M & Crielaard, W 2008, ' MLPA diagnostics of complex microbial communities: relative quantification of bacterial species in oral biofilms ', Journal of Microbiological Methods, vol. 75, no. 3, pp. 558-565 . https://doi.org/10.1016/j.mimet.2008.08.012
Journal of microbiological methods, 75(3), 558-565. Elsevier
Journal of Microbiological Methods, 75(3), 558-565. Elsevier
Terefework, Z, Pham, C I, Prosperi, A C, Entius, M M, Errami, A, van Spanning, R J M, Zaura, E, ten Cate, J M & Crielaard, W 2008, ' MLPA diagnostics of complex microbial communities. Relative quantification of bacterial species in oral biofilms. ', Journal of Microbiological Methods, vol. 75, pp. 558-565 . https://doi.org/10.1016/j.mimet.2008.08.012
Terefework, Z, Pham, C L, Prosperi, A C, Entius, M M, Errami, A, van Spanning, R J M, Zaura, E, ten Cate, J M & Crielaard, W 2008, ' MLPA diagnostics of complex microbial communities: relative quantification of bacterial species in oral biofilms ', Journal of Microbiological Methods, vol. 75, no. 3, pp. 558-565 . https://doi.org/10.1016/j.mimet.2008.08.012
Journal of microbiological methods, 75(3), 558-565. Elsevier
A multitude of molecular methods are currently used for identification and characterization of oral biofilms or for community profiling. However, multiplex PCR techniques that are able to routinely identify several species in a single assay are not a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0a2dfe6bddd3f72ad7d1f6e58baaa5b
https://research.vumc.nl/en/publications/00786bb2-15d8-46ab-8604-14525cf59a70
https://research.vumc.nl/en/publications/00786bb2-15d8-46ab-8604-14525cf59a70
Autor:
Klaus-Michael Keller, Siegfreid Uhlhaas, Waltraut Friedl, Manfred Stolte, Lone Sunde, Astrid Kaufmann, Elke Holinski-Feder, Stefan Aretz, Reiner Siebert, Stefanie Vogt, Stefan H Blaas, Dietlinde Stienen, Steffan Loff, Peter Propping, Mark M Entius, Stefanie Spranger, Walter Back
Publikováno v:
Aretz, S, Stienen, D, Uhlhaas, S, Stolte, M, Entius, M M, Loff, S, Back, W, Kaufmann, A, Keller, K-M, Blaas, S H, Siebert, R, Vogt, S, Spranger, S, Holinski-Feder, E, Sunde, L, Propping, P & Friedl, W 2007, ' High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. ', Journal of Medical Genetics, vol. 44, no. 11, pp. 702-9 . https://doi.org/10.1136/jmg.2007.052506
Aretz, S, Stienen, D, Uhlhaas, S, Stolte, M, Entius, M M, Loff, S, Back, W, Kaufmann, A, Keller, K M, Blaas, S H, Siebert, R, Vogt, S, Spranger, S, Holinski-Feder, E, Sunde, L, Propping, P & Friedl, W 2007, ' High proportion of large genomic deletions and a genotype-phenotype update in 80 unrelated families with juvenile polyposis syndrome ', Journal of Medical Genetics, vol. 44, no. 11, pp. 702-709 . https://doi.org/10.1136/jmg.2007.052506
Aretz, S, Stienen, D, Uhlhaas, S, Stolte, M, Entius, M M, Loff, S, Back, W, Kaufmann, A, Keller, K M, Blaas, S H, Siebert, R, Vogt, S, Spranger, S, Holinski-Feder, E, Sunde, L, Propping, P & Friedl, W 2007, ' High proportion of large genomic deletions and a genotype-phenotype update in 80 unrelated families with juvenile polyposis syndrome ', Journal of Medical Genetics, vol. 44, no. 11, pp. 702-709 . https://doi.org/10.1136/jmg.2007.052506
BACKGROUND: In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown. METHODS: Mutation and phenotype analysis was used in 80 unrelated patients of whom 65 met the clinical
Autor:
Faming Liang, Yolanda van der Graaf, Mark M. Entius, Maria Schipper, Hendrik J.T. Ruven, Diederick E. Grobbee, Pieter A. Doevendans, Jeroen Koerselman, Jakub J. Regieli, Jian Zhang
Publikováno v:
Human heredity. 66(4)
Objectives: Formation of collateral circulation is an endogenous response to atherosclerosis, and is a natural escape mechanism by re-routing blood. Inflammatory response- related genes underlie the formation of coronary collaterals. We explored the
Autor:
J. H.P. Wilson, Francis M. Giardiello, M.L.F. van Velthuysen, G. J. A. Offerhaus, J J Keller, B P van Rees, A.F.P.M. de Goeij, Anne Marie Westerman, Mark M. Entius
Publikováno v:
Journal of clinical pathology, 54(2), 126-131. BMJ Publishing Group
Journal of Clinical Pathology, 54, 126-131. BMJ Publishing Group
Journal of Clinical Pathology, 54, 126-131. BMJ Publishing Group
Aim—To investigate whether mutations in the STK11/LKB1 gene and genes implicated in the colorectal adenoma–carcinoma sequence are involved in Peutz-Jeghers syndrome (PJS) related tumorigenesis. Methods—Thirty nine polyps and five carcinomas fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::950dfcd7222740d1352a8a922974b7ed
https://pure.amc.nl/en/publications/molecular-genetic-alterations-in-hamartomatous-polyps-and-carcinomas-of-patients-with-peutzjeghers-syndrome(a7261c74-0340-4a46-bad1-c2b17fffe8d2).html
https://pure.amc.nl/en/publications/molecular-genetic-alterations-in-hamartomatous-polyps-and-carcinomas-of-patients-with-peutzjeghers-syndrome(a7261c74-0340-4a46-bad1-c2b17fffe8d2).html
Autor:
Jeroen Koerselman, Pieter A. Doevendans, Veronica J. Vieland, Robert J. Livingston, Dario Boffelli, Jian Zhang, Yun-Hee Choi, Diederick E. Grobbee, Ze Peng, Magdalena Ahearn, Jan Fang Cheng, Mark M. Entius, Sheila A. Fisher, Mark J. Rieder, Qian Yi, Tristan Shaffer, Dana C. Crawford, Laurent Briollais, Yolanda van der Graaf, M. Govil, Cathryn M. Lewis, Deborah A. Nickerson, Maria Schipper, Dan Nguyen, Hendrik J.T. Ruven, Karen A. Kopciuk, Faming Liang, Jakub J. Regieli
Publikováno v:
Human Heredity. 66:267-268