Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 8

1.

Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease.

Gardiner SL, Harder AVE, Campman YJM, Trompet S, Gussekloo J, van Belzen MJ, Boogaard MW, Roos RAC, Jansen IE, Pijnenburg YAL, Scheltens P, van der Flier WM, Aziz NA.

Neurobiol Aging. 2018 Sep 15. pii: S0197-4580(18)30330-0. doi: 10.1016/j.neurobiolaging.2018.09.007. [Epub ahead of print]

PMID:
30314815
2.

Repeat length variations in polyglutamine disease-associated genes affect body mass index.

Gardiner SL, de Mutsert R, Trompet S, Boogaard MW, van Dijk KW, Jukema PJW, Slagboom PE, Roos RAC, Pijl H, Rosendaal FR, Aziz NA.

Int J Obes (Lond). 2018 Aug 17. doi: 10.1038/s41366-018-0161-7. [Epub ahead of print]

PMID:
30120431
3.

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.

Buijsen RAM, Gardiner SL, Bouma MJ, van der Graaf LM, Boogaard MW, Pepers BA, Eussen B, de Klein A, Freund C, van Roon-Mom WMC.

Stem Cell Res. 2018 May;29:125-128. doi: 10.1016/j.scr.2018.03.018. Epub 2018 Apr 5.

4.

Huntingtin gene repeat size variations affect risk of lifetime depression.

Gardiner SL, van Belzen MJ, Boogaard MW, van Roon-Mom WMC, Rozing MP, van Hemert AM, Smit JH, Beekman ATF, van Grootheest G, Schoevers RA, Oude Voshaar RC, Roos RAC, Comijs HC, Penninx BWJH, van der Mast RC, Aziz NA.

Transl Psychiatry. 2017 Dec 11;7(12):1277. doi: 10.1038/s41398-017-0042-1. Review.

5.

Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression.

Gardiner SL, van Belzen MJ, Boogaard MW, van Roon-Mom WMC, Rozing MP, van Hemert AM, Smit JH, Beekman ATF, van Grootheest G, Schoevers RA, Oude Voshaar RC, Comijs HC, Penninx BWJH, van der Mast RC, Roos RAC, Aziz NA.

Transl Psychiatry. 2017 Jun 6;7(6):e1143. doi: 10.1038/tp.2017.116.

6.

Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes.

Stuitje G, van Belzen MJ, Gardiner SL, van Roon-Mom WMC, Boogaard MW; REGISTRY Investigators of the European Huntington Disease Network, Tabrizi SJ, Roos RAC, Aziz NA.

Brain. 2017 Jul 1;140(7):e42. doi: 10.1093/brain/awx122. No abstract available.

PMID:
28549075
7.

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.

van der Klift HM, Tops CM, Bik EC, Boogaard MW, Borgstein AM, Hansson KB, Ausems MG, Gomez Garcia E, Green A, Hes FJ, Izatt L, van Hest LP, Alonso AM, Vriends AH, Wagner A, van Zelst-Stams WA, Vasen HF, Morreau H, Devilee P, Wijnen JT.

Hum Mutat. 2010 May;31(5):578-87. doi: 10.1002/humu.21229.

PMID:
20186688
8.

Microsatellite analysis of voided-urine samples for surveillance of low-grade non-muscle-invasive urothelial carcinoma: feasibility and clinical utility in a prospective multicenter study (Cost-Effectiveness of Follow-Up of Urinary Bladder Cancer trial [CEFUB]).

van der Aa MN, Zwarthoff EC, Steyerberg EW, Boogaard MW, Nijsen Y, van der Keur KA, van Exsel AJ, Kirkels WJ, Bangma C, van der Kwast TH.

Eur Urol. 2009 Mar;55(3):659-67. doi: 10.1016/j.eururo.2008.05.001. Epub 2008 May 15.

PMID:
18501499

Supplemental Content

Loading ...
Support Center