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Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.
Santen GW, Sun Y, Gijsbers AC, Carré A, Holvoet M, Haeringen Av, Lesnik Oberstein SA, Tomoda A, Mabe H, Polak M, Devriendt K, Ruivenkamp CA, Bijlsma EK. Santen GW, et al. Among authors: lesnik oberstein sa. J Med Genet. 2012 Jun;49(6):366-72. doi: 10.1136/jmedgenet-2011-100721. Epub 2012 May 25. J Med Genet. 2012. PMID: 22636604
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
Rutten JW, Boon EM, Liem MK, Dauwerse JG, Pont MJ, Vollebregt E, Maat-Kievit AJ, Ginjaar HB, Lakeman P, van Duinen SG, Terwindt GM, Lesnik Oberstein SA. Rutten JW, et al. Among authors: lesnik oberstein sa. Hum Mutat. 2013 Nov;34(11):1486-9. doi: 10.1002/humu.22432. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24000151
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW, Haan J, Terwindt GM, van Duinen SG, Boon EM, Lesnik Oberstein SA. Rutten JW, et al. Among authors: lesnik oberstein sa. Expert Rev Mol Diagn. 2014 Jun;14(5):593-603. doi: 10.1586/14737159.2014.922880. Expert Rev Mol Diagn. 2014. PMID: 24844136 Review.
Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL.
Liem MK, van der Grond J, Haan J, van den Boom R, Ferrari MD, Knaap YM, Breuning MH, van Buchem MA, Middelkoop HA, Lesnik Oberstein SA. Liem MK, et al. Among authors: lesnik oberstein sa. Stroke. 2007 Mar;38(3):923-8. doi: 10.1161/ Epub 2007 Feb 1. Stroke. 2007. PMID: 17272761
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.
Rutten JW, Dauwerse HG, Gravesteijn G, van Belzen MJ, van der Grond J, Polke JM, Bernal-Quiros M, Lesnik Oberstein SA. Rutten JW, et al. Among authors: lesnik oberstein sa. Ann Clin Transl Neurol. 2016 Sep 28;3(11):844-853. doi: 10.1002/acn3.344. eCollection 2016 Nov. Ann Clin Transl Neurol. 2016. PMID: 27844030 Free PMC article.
50 results