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Page 1
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
Lemmers RJLF, van der Vliet PJ, Granado DSL, van der Stoep N, Buermans H, van Schendel R, Schimmel J, de Visser M, van Coster R, Jeanpierre M, Laforet P, Upadhyaya M, van Engelen B, Sacconi S, Tawil R, Voermans NC, Rogers M, van der Maarel SM. Lemmers RJLF, et al. Among authors: van der maarel sm, van engelen b, van coster r, van schendel r, van der stoep n, van der vliet pj. Hum Mol Genet. 2022 Mar 3;31(5):748-760. doi: 10.1093/hmg/ddab250. Hum Mol Genet. 2022. PMID: 34559225 Free PMC article.
Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.
van den Boogaard ML, Lemmers RJ, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM. van den Boogaard ML, et al. Among authors: van der maarel sm, van engelen bg, van der stoep n, van der vliet pj. Eur J Hum Genet. 2016 Jan;24(1):78-85. doi: 10.1038/ejhg.2015.55. Epub 2015 Mar 18. Eur J Hum Genet. 2016. PMID: 25782668 Free PMC article.
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.
Goselink RJM, Schreuder THA, van Alfen N, de Groot IJM, Jansen M, Lemmers RJLF, van der Vliet PJ, van der Stoep N, Theelen T, Voermans NC, van der Maarel SM, van Engelen BGM, Erasmus CE. Goselink RJM, et al. Among authors: van alfen n, van der maarel sm, van engelen bgm, van der stoep n, van der vliet pj. Ann Neurol. 2018 Nov;84(5):627-637. doi: 10.1002/ana.25326. Epub 2018 Oct 16. Ann Neurol. 2018. PMID: 30179273 Free PMC article.
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM. Lemmers RJLF, et al. Among authors: van der maarel sm, van engelen b, van der stoep n, van der vliet pj. Hum Mol Genet. 2018 Oct 15;27(20):3488-3497. doi: 10.1093/hmg/ddy236. Hum Mol Genet. 2018. PMID: 30281091 Free PMC article.
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Lemmers RJLF, van der Stoep N, Vliet PJV, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Shaw ND, Selvatici R, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M, van der Maarel SM. Lemmers RJLF, et al. Among authors: van der maarel sm, van engelen b, van der stoep n. J Med Genet. 2019 Oct;56(10):693-700. doi: 10.1136/jmedgenet-2019-106168. Epub 2019 Jun 26. J Med Genet. 2019. PMID: 31243061 Free PMC article.
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.
Goossens R, van den Boogaard ML, Lemmers RJLF, Balog J, van der Vliet PJ, Willemsen IM, Schouten J, Maggio I, van der Stoep N, Hoeben RC, Tapscott SJ, Geijsen N, Gonçalves MAFV, Sacconi S, Tawil R, van der Maarel SM. Goossens R, et al. Among authors: van der maarel sm, van den boogaard ml, van der stoep n, van der vliet pj. J Med Genet. 2019 Dec;56(12):828-837. doi: 10.1136/jmedgenet-2019-106402. Epub 2019 Nov 1. J Med Genet. 2019. PMID: 31676591 Free PMC article.
Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Vincenten SCC, Van Der Stoep N, Paulussen ADC, Mul K, Badrising UA, Kriek M, Van Der Heijden OWH, Van Engelen BGM, Voermans NC, De Die-Smulders CEM, Lassche S. Vincenten SCC, et al. Among authors: van der heijden owh, van engelen bgm, van der stoep n. Clin Genet. 2022 Feb;101(2):149-160. doi: 10.1111/cge.14031. Epub 2021 Aug 1. Clin Genet. 2022. PMID: 34297364 Free PMC article. Review.
Natural History of Facioscapulohumeral Dystrophy in Children: A 2-Year Follow-up.
Dijkstra JN, Goselink RJM, van Alfen N, de Groot IJM, Pelsma M, van der Stoep N, Theelen T, van Engelen BGM, Voermans NC, Erasmus CE. Dijkstra JN, et al. Among authors: van alfen n, van engelen bgm, van der stoep n. Neurology. 2021 Nov 23;97(21):e2103-e2113. doi: 10.1212/WNL.0000000000012882. Epub 2021 Oct 21. Neurology. 2021. PMID: 34675094 Free PMC article.
Comments on 'Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures' in Molecular Genetics and Metabolism' 2014 Mar;111(3):404-7 by M.G. de Roo, N.G. Abeling, C.B. Majoie, A.M. Bosch, J.H. Koelman, J.M. Cobben, M. Duran, B.T. Poll-The.
van der Stoep N, Onkenhout W, Prins S, Struys E, Jakobs C, Peeters-Scholte C. van der Stoep N, et al. Mol Genet Metab Rep. 2014 May 10;1:220-222. doi: 10.1016/j.ymgmr.2014.04.005. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896090 Free PMC article. No abstract available.
100 results