PubMed for id: 109029533

Year	Number of Results
1997	4
1999	2
2000	1
2001	3
2003	1
2012	1
2024	0

1

Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.

Borel C, Migliavacca E, Letourneau A, Gagnebin M, Béna F, Sailani MR, Dermitzakis ET, Sharp AJ, Antonarakis SE. Borel C, et al. Hum Mutat. 2012 Aug;33(8):1302-9. doi: 10.1002/humu.22115. Epub 2012 Jun 15. Hum Mutat. 2012. PMID: 22573514

2

A patient with 2 different repeat expansion mutations.

Nokelainen P, Heiskala H, Lehesjoki AE, Kaski M. Nokelainen P, et al. Arch Neurol. 2000 Aug;57(8):1199-203. doi: 10.1001/archneur.57.8.1199. Arch Neurol. 2000. PMID: 10927802

3

Instability of the EPM1 minisatellite.

Larson GP, Ding S, Lafrenière RG, Rouleau GA, Krontiris TG. Larson GP, et al. Hum Mol Genet. 1999 Oct;8(11):1985-8. doi: 10.1093/hmg/8.11.1985. Hum Mol Genet. 1999. PMID: 10484766

4

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.

Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE. Lalioti MD, et al. Nature. 1997 Apr 24;386(6627):847-51. doi: 10.1038/386847a0. Nature. 1997. PMID: 9126745

5

The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence.

Cleary JD, Pearson CE. Cleary JD, et al. Cytogenet Genome Res. 2003;100(1-4):25-55. doi: 10.1159/000072837. Cytogenet Genome Res. 2003. PMID: 14526163 Review.

6

Intramolecular i-motif structure at acidic pH for progressive myoclonus epilepsy (EPM1) repeat d(CCCCGCCCCGCG)n.

Pataskar SS, Dash D, Brahmachari SK. Pataskar SS, et al. J Biomol Struct Dyn. 2001 Oct;19(2):307-13. doi: 10.1080/07391102.2001.10506741. J Biomol Struct Dyn. 2001. PMID: 11697735

7

Progressive myoclonus epilepsy [EPM1] repeat d(CCCCGCCCCGCG)n forms folded hairpin structures at physiological pH.

Pataskar SS, Dash D, Brahmachari SK. Pataskar SS, et al. J Biomol Struct Dyn. 2001 Oct;19(2):293-305. doi: 10.1080/07391102.2001.10506740. J Biomol Struct Dyn. 2001. PMID: 11697734

8

Unverricht-Lundborg disease in a five-generation Arab family: instability of dodecamer repeats.

Mazarib A, Xiong L, Neufeld MY, Birnbaum M, Korczyn AD, Pandolfo M, Berkovic SF. Mazarib A, et al. Neurology. 2001 Sep 25;57(6):1050-4. doi: 10.1212/wnl.57.6.1050. Neurology. 2001. PMID: 11571333

9

Tandem repeats finder: a program to analyze DNA sequences.

Benson G. Benson G. Nucleic Acids Res. 1999 Jan 15;27(2):573-80. doi: 10.1093/nar/27.2.573. Nucleic Acids Res. 1999. PMID: 9862982 Free PMC article.

10

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.

Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, de la Chapelle A, Lehesjoki AE. Virtaneva K, et al. Nat Genet. 1997 Apr;15(4):393-6. doi: 10.1038/ng0497-393. Nat Genet. 1997. PMID: 9090386

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