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Page 1
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Among authors: de vries ls. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium; Dobyns WB, Baas F, Poll-The BT. Namavar Y, et al. Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15. Brain. 2011. PMID: 20952379 Free PMC article.
Pontocerebellar hypoplasia type 2: a neuropathological update.
Barth PG, Aronica E, de Vries L, Nikkels PG, Scheper W, Hoozemans JJ, Poll-The BT, Troost D. Barth PG, et al. Acta Neuropathol. 2007 Oct;114(4):373-86. doi: 10.1007/s00401-007-0263-0. Epub 2007 Jul 20. Acta Neuropathol. 2007. PMID: 17641900 Free PMC article.
Pontocerebellar hypoplasia associated with respiratory-chain defects.
de Koning TJ, de Vries LS, Groenendaal F, Ruitenbeek W, Jansen GH, Poll-The BT, Barth PG. de Koning TJ, et al. Among authors: de vries ls. Neuropediatrics. 1999 Apr;30(2):93-5. doi: 10.1055/s-2007-973467. Neuropediatrics. 1999. PMID: 10401692
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM. Meuwissen ME, et al. Among authors: de vries ls, de coo r. Genet Med. 2015 Nov;17(11):843-53. doi: 10.1038/gim.2014.210. Epub 2015 Feb 26. Genet Med. 2015. PMID: 25719457 Free article. Review.
PTEN hamartoma tumour syndrome: variability of an entity.
Merks JH, de Vries LS, Zhou XP, Nikkels P, Barth PG, Eng C, Hennekam RC. Merks JH, et al. Among authors: de vries ls. J Med Genet. 2003 Oct;40(10):e111. doi: 10.1136/jmg.40.10.e111. J Med Genet. 2003. PMID: 14569134 Free PMC article. No abstract available.
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
Yan H, Helman G, Murthy SE, Ji H, Crawford J, Kubisiak T, Bent SJ, Xiao J, Taft RJ, Coombs A, Wu Y, Pop A, Li D, de Vries LS, Jiang Y, Salomons GS, van der Knaap MS, Patapoutian A, Simons C, Burmeister M, Wang J, Wolf NI. Yan H, et al. Among authors: de vries ls. Am J Hum Genet. 2019 Nov 7;105(5):996-1004. doi: 10.1016/j.ajhg.2019.09.011. Epub 2019 Oct 3. Am J Hum Genet. 2019. PMID: 31587869 Free PMC article.
Bilateral lesions of thalamus and basal ganglia: origin and outcome.
Krägeloh-Mann I, Helber A, Mader I, Staudt M, Wolff M, Groenendaal F, DeVries L. Krägeloh-Mann I, et al. Dev Med Child Neurol. 2002 Jul;44(7):477-84. doi: 10.1017/s0012162201002389. Dev Med Child Neurol. 2002. PMID: 12162385 Free article.
540 results