De Die-Smulders CE - Search Results

1

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC. Simón-Sánchez J, et al. Brain. 2012 Mar;135(Pt 3):723-35. doi: 10.1093/brain/awr353. Epub 2012 Feb 1. Brain. 2012. PMID: 22300876

2

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

de Graaff E, Willemsen R, Zhong N, de Die-Smulders CE, Brown WT, Freling G, Oostra B. de Graaff E, et al. Am J Hum Genet. 1995 Sep;57(3):609-18. Am J Hum Genet. 1995. PMID: 7668289 Free PMC article.

3

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.

Meijer H, de Graaff E, Merckx DM, Jongbloed RJ, de Die-Smulders CE, Engelen JJ, Fryns JP, Curfs PM, Oostra BA. Meijer H, et al. Hum Mol Genet. 1994 Apr;3(4):615-20. doi: 10.1093/hmg/3.4.615. Hum Mol Genet. 1994. PMID: 8069307

4

Age and causes of death in adult-onset myotonic dystrophy.

de Die-Smulders CE, Höweler CJ, Thijs C, Mirandolle JF, Anten HB, Smeets HJ, Chandler KE, Geraedts JP. de Die-Smulders CE, et al. Brain. 1998 Aug;121 ( Pt 8):1557-63. doi: 10.1093/brain/121.8.1557. Brain. 1998. PMID: 9712016

5

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss.

Spaans F, Faber CG, Smeets HJ, Hofman PA, Braida C, Monckton DG, de Die-Smulders CE. Spaans F, et al. J Neurol Neurosurg Psychiatry. 2009 Sep;80(9):1029-35. doi: 10.1136/jnnp.2008.170126. Epub 2009 Mar 24. J Neurol Neurosurg Psychiatry. 2009. PMID: 19321466 Free article.

6

The unfolding clinical spectrum of POLG mutations.

Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J, de Coo IF, Smeets HJ. Blok MJ, et al. J Med Genet. 2009 Nov;46(11):776-85. doi: 10.1136/jmg.2009.067686. Epub 2009 Jul 2. J Med Genet. 2009. PMID: 19578034

7

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008.

van Rij MC, de Koning Gans PA, Aalfs CM, Elting M, Ippel PF, Maat-Kievit JA, Vermeer S, Verschuuren-Bemelmans CC, van Belzen MJ, Belfroid RD, Losekoot M, Geraedts JP, Roos RA, Tibben A, de Die-Smulders CE, Bijlsma EK. van Rij MC, et al. Clin Genet. 2014 Jan;85(1):78-86. doi: 10.1111/cge.12090. Epub 2013 Mar 27. Clin Genet. 2014. PMID: 23350614

8

Clinical and genetic characteristics of late-onset Huntington's disease.

Oosterloo M, Bijlsma EK, van Kuijk SM, Minkels F, de Die-Smulders CE. Oosterloo M, et al. Parkinsonism Relat Disord. 2019 Apr;61:101-105. doi: 10.1016/j.parkreldis.2018.11.009. Epub 2018 Nov 29. Parkinsonism Relat Disord. 2019. PMID: 30528461

9

Validation of preimplantation genetic diagnosis by PCR analysis: genotype comparison of the blastomere and corresponding embryo, implications for clinical practice.

Dreesen J, Drüsedau M, Smeets H, de Die-Smulders C, Coonen E, Dumoulin J, Gielen M, Evers J, Herbergs J, Geraedts J. Dreesen J, et al. Mol Hum Reprod. 2008 Oct;14(10):573-9. doi: 10.1093/molehr/gan052. Epub 2008 Sep 18. Mol Hum Reprod. 2008. PMID: 18805801

10

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG. Braida C, et al. Hum Mol Genet. 2010 Apr 15;19(8):1399-412. doi: 10.1093/hmg/ddq015. Epub 2010 Jan 15. Hum Mol Genet. 2010. PMID: 20080938

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