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Items: 1 to 20 of 109

1.

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, MacDonald ME, Gusella JF.

Am J Hum Genet. 2012 Mar 9;90(3):434-44. doi: 10.1016/j.ajhg.2012.01.005. Epub 2012 Mar 1.

2.

4p16.3 haplotype modifying age at onset of Huntington disease.

Nørremølle A, Budtz-Jørgensen E, Fenger K, Nielsen JE, Sørensen SA, Hasholt L.

Clin Genet. 2009 Mar;75(3):244-50. doi: 10.1111/j.1399-0004.2008.01136.x.

PMID:
19250382
3.

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.

Ramos EM, Gillis T, Mysore JS, Lee JM, Gögele M, D'Elia Y, Pichler I, Sequeiros J, Pramstaller PP, Gusella JF, MacDonald ME, Alonso I.

Am J Med Genet B Neuropsychiatr Genet. 2015 Mar;168B(2):135-43. doi: 10.1002/ajmg.b.32289. Epub 2015 Feb 5.

4.

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

Djoussé L, Knowlton B, Hayden MR, Almqvist EW, Brinkman RR, Ross CA, Margolis RL, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gómez-Tortosa E, Mayo Cabrero D, Jones R, Zanko A, Nance M, Abramson RK, Suchowersky O, Paulsen JS, Harrison MB, Yang Q, Cupples LA, Mysore J, Gusella JF, MacDonald ME, Myers RH.

Neurogenetics. 2004 Jun;5(2):109-14. Epub 2004 Mar 17.

5.

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.

García-Planells J, Burguera JA, Solís P, Millán JM, Ginestar D, Palau F, Espinós C.

Hum Mutat. 2005 May;25(5):453-9.

PMID:
15832309
6.

Late-onset and typical Huntington disease families from Crete have distinct genetic origins.

Kartsaki E, Spanaki C, Tzagournissakis M, Petsakou A, Moschonas N, Macdonald M, Plaitakis A.

Int J Mol Med. 2006 Feb;17(2):335-46.

PMID:
16391835
7.

Sequence-Level Analysis of the Major European Huntington Disease Haplotype.

Lee JM, Kim KH, Shin A, Chao MJ, Abu Elneel K, Gillis T, Mysore JS, Kaye JA, Zahed H, Kratter IH, Daub AC, Finkbeiner S, Li H, Roach JC, Goodman N, Hood L, Myers RH, MacDonald ME, Gusella JF.

Am J Hum Genet. 2015 Sep 3;97(3):435-44. doi: 10.1016/j.ajhg.2015.07.017. Epub 2015 Aug 27.

8.

The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation.

Costa MC, Magalhães P, Guimarães L, Maciel P, Sequeiros J, Sousa A.

J Hum Genet. 2006;51(3):189-95. Epub 2005 Dec 22.

PMID:
16372132
9.

DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients.

Wang CK, Wu YR, Hwu WL, Chen CM, Ro LS, Chen ST, Gwinn-Hardy K, Yang CC, Wu RM, Chen TF, Wang HC, Chao MC, Chiu MJ, Lu CJ, Lee-Chen GJ.

Eur Neurol. 2004;52(2):96-100. Epub 2004 Jul 22.

PMID:
15273431
10.

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence.

Squitieri F, Andrew SE, Goldberg YP, Kremer B, Spence N, Zeisler J, Nichol K, Theilmann J, Greenberg J, Goto J, et al.

Hum Mol Genet. 1994 Dec;3(12):2103-14.

PMID:
7881406
11.

Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington's disease.

Agostinho Lde A, Rocha CF, Medina-Acosta E, Barboza HN, da Silva AF, Pereira SP, da Silva Idos S, Paradela ER, Figueiredo AL, Nogueira Ede M, Alvarenga RM, Hernan Cabello P, dos Santos SR, Paiva CL.

J Hum Genet. 2012 Dec;57(12):796-803. doi: 10.1038/jhg.2012.120. Epub 2012 Oct 11. Erratum in: J Hum Genet. 2012 Dec;57(12):810.

PMID:
23051704
12.

Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes.

Baine FK, Kay C, Ketelaar ME, Collins JA, Semaka A, Doty CN, Krause A, Greenberg LJ, Hayden MR.

Eur J Hum Genet. 2013 Oct;21(10):1120-7. doi: 10.1038/ejhg.2013.2. Epub 2013 Mar 6.

13.

Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.

Krause A, Mitchell C, Essop F, Tager S, Temlett J, Stevanin G, Ross C, Rudnicki D, Margolis R.

Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):573-85. doi: 10.1002/ajmg.b.32332. Epub 2015 Jun 16.

14.

High frequency of intermediate alleles on Huntington disease-associated haplotypes in British Columbia's general population.

Semaka A, Kay C, Doty CN, Collins JA, Tam N, Hayden MR.

Am J Med Genet B Neuropsychiatr Genet. 2013 Dec;162B(8):864-71. doi: 10.1002/ajmg.b.32193. Epub 2013 Aug 30.

PMID:
24038799
15.

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.

Keum JW, Shin A, Gillis T, Mysore JS, Abu Elneel K, Lucente D, Hadzi T, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM.

Am J Hum Genet. 2016 Feb 4;98(2):287-98. doi: 10.1016/j.ajhg.2015.12.018.

16.

Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.

Semaka A, Creighton S, Warby S, Hayden MR.

Clin Genet. 2006 Oct;70(4):283-94. Review. Erratum in: Clin Genet. 2007 Jan;71(1):99.

PMID:
16965319
17.

[Molecular genetics of Huntington's disease].

Goto J, Masuda N, Watanabe M, Kanazawa I.

Rinsho Shinkeigaku. 1995 Dec;35(12):1529-31. Japanese.

PMID:
8752453
18.

Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease.

Veitch NJ, Ennis M, McAbney JP; US-Venezuela Collaborative Research Project, Shelbourne PF, Monckton DG.

DNA Repair (Amst). 2007 Jun 1;6(6):789-96. Epub 2007 Feb 12.

PMID:
17293170
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.

The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease.

Correia K, Harold D, Kim KH, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM.

J Huntingtons Dis. 2015;4(3):279-84. doi: 10.3233/JHD-150169.

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