Literature DB >> 20004773

Response to Falush: a role for cis-element polymorphisms in HD.

Simon C Warby, Henk Visscher, Stefanie Butland, Christopher E Pearson, Michael R Hayden.   

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Year:  2009        PMID： 20004773      PMCID： PMC2790565          DOI： 10.1016/j.ajhg.2009.11.006

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  17 in total

1.  Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells.

Authors:  John D Cleary; Kerrie Nichol; Yuh-Hwa Wang; Christopher E Pearson
Journal:  Nat Genet       Date:  2002-04-22       Impact factor: 38.330

Review 2.  The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence.

Authors:  J D Cleary; C E Pearson
Journal:  Cytogenet Genome Res       Date:  2003       Impact factor: 1.636

Review 3.  Repeat instability: mechanisms of dynamic mutations.

Authors:  Christopher E Pearson; Kerrie Nichol Edamura; John D Cleary
Journal:  Nat Rev Genet       Date:  2005-10       Impact factor: 53.242

Review 4.  CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches.

Authors:  Douglas R Langbehn; Michael R Hayden; Jane S Paulsen
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2010-03-05       Impact factor: 3.568

5.  Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.

Authors:  E P Leeflang; S Tavaré; P Marjoram; C O Neal; J Srinidhi; H MacFarlane; M E MacDonald; J F Gusella; M de Young; N S Wexler; N Arnheim
Journal:  Hum Mol Genet       Date:  1999-02       Impact factor: 6.150

6.  Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.

Authors:  Laura M Pollard; Rajesh Sharma; Mariluz Gómez; Sonali Shah; Martin B Delatycki; Luigi Pianese; Antonella Monticelli; Bronya J B Keats; Sanjay I Bidichandani
Journal:  Nucleic Acids Res       Date:  2004-11-08       Impact factor: 16.971

7.  Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability.

Authors:  Krzysztof Sobczak; Wlodzimierz J Krzyzosiak
Journal:  Hum Mutat       Date:  2004-09       Impact factor: 4.878

8.  A Darwinian approach to Huntington's disease: subtle health benefits of a neurological disorder.

Authors:  Benjamin R Eskenazi; Noah S Wilson-Rich; Philip T Starks
Journal:  Med Hypotheses       Date:  2007-08-08       Impact factor: 1.538

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

Authors:  Luc Djoussé; Beth Knowlton; Michael R Hayden; Elisabeth W Almqvist; Ryan R Brinkman; Christopher A Ross; Russel L Margolis; Adam Rosenblatt; Alexandra Durr; Catherine Dode; Patrick J Morrison; Andrea Novelletto; Marina Frontali; Ronald J A Trent; Elizabeth McCusker; Estrella Gómez-Tortosa; David Mayo Cabrero; Randi Jones; Andrea Zanko; Martha Nance; Ruth K Abramson; Oksana Suchowersky; Jane S Paulsen; Madaline B Harrison; Qiong Yang; L Adrienne Cupples; Jayalakshmi Mysore; James F Gusella; Marcy E MacDonald; Richard H Myers
Journal:  Neurogenetics       Date:  2004-03-17       Impact factor: 2.660

10.  CAG-encoded polyglutamine length polymorphism in the human genome.

Authors:  Stefanie L Butland; Rebecca S Devon; Yong Huang; Carri-Lyn Mead; Alison M Meynert; Scott J Neal; Soo Sen Lee; Anna Wilkinson; George S Yang; Macaire M S Yuen; Michael R Hayden; Robert A Holt; Blair R Leavitt; B F Francis Ouellette
Journal:  BMC Genomics       Date:  2007-05-22       Impact factor: 3.969
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  2 in total

1.  HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia.

Authors:  Simon C Warby; Henk Visscher; Jennifer A Collins; Crystal N Doty; Catherine Carter; Stefanie L Butland; Anna R Hayden; Ichiro Kanazawa; Colin J Ross; Michael R Hayden
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

2.  Trinucleotide repeats and haplotypes at the huntingtin locus in an Indian sample overlaps with European haplogroup a.

Authors:  Nagaraj S Moily; Lakshmi Narayanan Kota; Ram Murthy Anjanappa; Sowmya Venugopal; Radhika Vaidyanathan; Pramod Pal; Meera Purushottam; Sanjeev Jain; Mahesh Kandasamy
Journal:  PLoS Curr       Date:  2014-09-24
  2 in total

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