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The multifunctional nucleolus.
Boisvert FM, van Koningsbruggen S, Navascués J, Lamond AI. Boisvert FM, et al. Among authors: van koningsbruggen s. Nat Rev Mol Cell Biol. 2007 Jul;8(7):574-85. doi: 10.1038/nrm2184. Nat Rev Mol Cell Biol. 2007. PMID: 17519961 Review.
Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein.
Sun CY, van Koningsbruggen S, Long SW, Straasheijm K, Klooster R, Jones TI, Bellini M, Levesque L, Brieher WM, van der Maarel SM, Jones PL. Sun CY, et al. Among authors: van koningsbruggen s, van der maarel sm. J Mol Biol. 2011 Aug 12;411(2):397-416. doi: 10.1016/j.jmb.2011.06.014. Epub 2011 Jun 15. J Mol Biol. 2011. PMID: 21699900 Free PMC article.
Analysis of human small nucleolar RNAs (snoRNA) and the development of snoRNA modulator of gene expression vectors.
Ono M, Yamada K, Avolio F, Scott MS, van Koningsbruggen S, Barton GJ, Lamond AI. Ono M, et al. Among authors: van koningsbruggen s. Mol Biol Cell. 2010 May 1;21(9):1569-84. doi: 10.1091/mbc.e10-01-0078. Epub 2010 Mar 10. Mol Biol Cell. 2010. PMID: 20219969 Free PMC article.
High-resolution whole-genome sequencing reveals that specific chromatin domains from most human chromosomes associate with nucleoli.
van Koningsbruggen S, Gierlinski M, Schofield P, Martin D, Barton GJ, Ariyurek Y, den Dunnen JT, Lamond AI. van Koningsbruggen S, et al. Mol Biol Cell. 2010 Nov 1;21(21):3735-48. doi: 10.1091/mbc.E10-06-0508. Epub 2010 Sep 8. Mol Biol Cell. 2010. PMID: 20826608 Free PMC article.
Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody.
Verheesen P, de Kluijver A, van Koningsbruggen S, de Brij M, de Haard HJ, van Ommen GJ, van der Maarel SM, Verrips CT. Verheesen P, et al. Among authors: van koningsbruggen s, van ommen gj, van der maarel sm. Hum Mol Genet. 2006 Jan 1;15(1):105-11. doi: 10.1093/hmg/ddi432. Epub 2005 Nov 30. Hum Mol Genet. 2006. PMID: 16319127
FRG1P-mediated aggregation of proteins involved in pre-mRNA processing.
van Koningsbruggen S, Straasheijm KR, Sterrenburg E, de Graaf N, Dauwerse HG, Frants RR, van der Maarel SM. van Koningsbruggen S, et al. Among authors: van der maarel sm. Chromosoma. 2007 Feb;116(1):53-64. doi: 10.1007/s00412-006-0083-3. Epub 2006 Nov 14. Chromosoma. 2007. PMID: 17103222
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy.
van Koningsbruggen S, de Haard H, de Kievit P, Dirks RW, van Remoortere A, Groot AJ, van Engelen BG, den Dunnen JT, Verrips CT, Frants RR, van der Maarel SM. van Koningsbruggen S, et al. Among authors: van remoortere a, van engelen bg, van der maarel sm. J Immunol Methods. 2003 Aug;279(1-2):149-61. doi: 10.1016/s0022-1759(03)00232-1. J Immunol Methods. 2003. PMID: 12969556
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.
Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM. Rijkers T, et al. Among authors: van koningsbruggen s, van geel m, van deutekom jc, van der maarel sm. J Med Genet. 2004 Nov;41(11):826-36. doi: 10.1136/jmg.2004.019364. J Med Genet. 2004. PMID: 15520407 Free PMC article.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Among authors: van koningsbruggen s. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.
van Koningsbruggen S, Knoester H, Bakx R, Mook O, Knegt L, Cobben JM. van Koningsbruggen S, et al. Am J Med Genet A. 2016 Feb;170A(2):510-514. doi: 10.1002/ajmg.a.37453. Epub 2015 Nov 24. Am J Med Genet A. 2016. PMID: 26601923
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