Literature DB >> 1339471

A dinucleotide repeat polymorphism at the D4S127 locus.

S A Taylor1, G T Barnes, M E MacDonald, J F Gusella.   

Abstract

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Year:  1992        PMID: 1339471     DOI: 10.1093/hmg/1.2.142-a

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


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  5 in total

1.  Huntington disease without CAG expansion: phenocopies or errors in assignment?

Authors:  S E Andrew; Y P Goldberg; B Kremer; F Squitieri; J Theilmann; J Zeisler; H Telenius; S Adam; E Almquist; M Anvret
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

2.  A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.

Authors:  D Valverde; T Solans; D Grinberg; S Balcells; L Vilageliu; M Bayés; P Chivelet; C Besmond; M Goossens; R González-Duarte; M Baiget
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

3.  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

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

Authors:  Monique Losekoot; Martine J van Belzen; Sara Seneca; Peter Bauer; Susan A R Stenhouse; David E Barton
Journal:  Eur J Hum Genet       Date:  2012-09-19       Impact factor: 4.246

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

Authors:  Eliana Marisa Ramos; Tammy Gillis; Jayalakshmi S Mysore; Jong-Min Lee; Martin Gögele; Yuri D'Elia; Irene Pichler; Jorge Sequeiros; Peter P Pramstaller; James F Gusella; Marcy E MacDonald; Isabel Alonso
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2015-02-05       Impact factor: 3.568

  5 in total

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