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Results: 1 to 20 of 87

Similar articles for PubMed (Select 18073586)

1.

Development of genomic reference materials for Huntington disease genetic testing.

Kalman L, Johnson MA, Beck J, Berry-Kravis E, Buller A, Casey B, Feldman GL, Handsfield J, Jakupciak JP, Maragh S, Matteson K, Muralidharan K, Richie KL, Rohlfs EM, Schaefer F, Sellers T, Spector E, Richards CS.

Genet Med. 2007 Oct;9(10):719-23.

PMID:
18073586
2.

Huntington disease: Banking on ATM.

Flemming A.

Nat Rev Drug Discov. 2015 Feb;14(2):92. doi: 10.1038/nrd4542. No abstract available.

PMID:
25633789
3.
4.

Validation of human clinical genetic tests.

Peris-Vicente J, Ochoa-Arand E, Carda-Broch S, Esteve-Romero J.

Mini Rev Med Chem. 2014;14(10):831-6.

PMID:
25342195
5.

Predictive testing: more than just another test.

Sheffield L, Ayres SR.

Intern Med J. 2013 Dec;43(12):1261-2. doi: 10.1111/imj.12312. No abstract available.

PMID:
24330359
6.

Genomic testing: the clinical laboratory perspective.

Faruki H.

Clin Pharmacol Ther. 2013 Aug;94(2):190-2. doi: 10.1038/clpt.2013.61.

PMID:
23872833
7.

Triplet repeat primed PCR simplifies testing for Huntington disease.

Jama M, Millson A, Miller CE, Lyon E.

J Mol Diagn. 2013 Mar;15(2):255-62. doi: 10.1016/j.jmoldx.2012.09.005. Epub 2013 Feb 13.

8.

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.

Losekoot M, van Belzen MJ, Seneca S, Bauer P, Stenhouse SA, Barton DE; European Molecular Genetic Quality Network (EMQN).

Eur J Hum Genet. 2013 May;21(5):480-6. doi: 10.1038/ejhg.2012.200. Epub 2012 Sep 19.

9.

Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey.

Palomaki GE, Richards CS.

Genet Med. 2012 Jan;14(1):69-75. doi: 10.1038/gim.0b013e3182310bb5. Epub 2011 Sep 26.

PMID:
22237433
10.

[Clinical characteristics and genetic mutation analysis in a Hui family with Huntington disease].

Chen J, Lei J, Zhang XN.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):493-5. doi: 10.3760/cma.j.issn.1003-9406.2011.05.004. Chinese.

PMID:
21983719
11.

Discrepancies in reporting the CAG repeat lengths for Huntington's disease.

Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network.

Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3.

12.

Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease.

Aziz NA, van Belzen MJ, Coops ID, Belfroid RD, Roos RA.

Eur J Med Genet. 2011 Jul-Aug;54(4):e413-8. doi: 10.1016/j.ejmg.2011.04.002. Epub 2011 Apr 23.

PMID:
21540131
13.

[Clinical characteristics of Huntington disease in two pedigrees and analysis of expanded CAG trinucleotide repeat].

Cao GN, Bao XH, Lu HM, Zhang JJ, Ma YN, Gu WH, Xiong H, Qin J, Wu XR.

Beijing Da Xue Xue Bao. 2011 Apr 18;43(2):163-7. Chinese.

14.

The neurology and natural history of patients with indeterminate CAG repeat length mutations of the Huntington disease gene.

Panegyres PK, Goh JG.

J Neurol Sci. 2011 Feb 15;301(1-2):14-20. doi: 10.1016/j.jns.2010.11.015. Epub 2010 Dec 13.

PMID:
21147489
15.

Evidence for a predisposing background for CAG expansion leading to HTT mutation in a Chinese population.

Ma M, Yang Y, Shang H, Su D, Zhang H, Ma Y, Liu Y, Tao D, Zhang S.

J Neurol Sci. 2010 Nov 15;298(1-2):57-60. doi: 10.1016/j.jns.2010.08.024.

PMID:
20864123
16.

A standardized framework for the validation and verification of clinical molecular genetic tests.

Mattocks CJ, Morris MA, Matthijs G, Swinnen E, Corveleyn A, Dequeker E, Müller CR, Pratt V, Wallace A; EuroGentest Validation Group.

Eur J Hum Genet. 2010 Dec;18(12):1276-88. doi: 10.1038/ejhg.2010.101. Epub 2010 Jul 28.

17.

Derivation of Huntington's disease-affected human embryonic stem cell lines.

Bradley CK, Scott HA, Chami O, Peura TT, Dumevska B, Schmidt U, Stojanov T.

Stem Cells Dev. 2011 Mar;20(3):495-502. doi: 10.1089/scd.2010.0120. Epub 2010 Aug 31.

PMID:
20649476
18.

A unified rapid PCR method for detection of normal and expanded trinucleotide alleles of CAG repeats in huntington chorea and CGG repeats in fragile X syndrome.

Todorov T, Todorova A, Georgieva B, Mitev V.

Mol Biotechnol. 2010 Jun;45(2):150-4. doi: 10.1007/s12033-010-9260-y.

PMID:
20217280
19.

Late-onset Huntington disease with intermediate CAG repeats: true or false?

Groen JL, de Bie RM, Foncke EM, Roos RA, Leenders KL, Tijssen MA.

J Neurol Neurosurg Psychiatry. 2010 Feb;81(2):228-30. doi: 10.1136/jnnp.2008.170902.

PMID:
20145031
20.

[Study of the association of genotype and phenotype features of the pathogenesis of Huntington's chorea].

Hryshchenko NV, Kucherenko AM, Patskun EI, Livshyts' LA.

Tsitol Genet. 2009 May-Jun;43(3):42-7. Ukrainian.

PMID:
19938636
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