Literature DB >> 11283208

New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles.

A Maat-Kievit, M Losekoot, H Van Den Boer-Van Den Berg, G J Van Ommen, M Niermeijer, M Breuning, A Tibben.   

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Year:  2001        PMID： 11283208      PMCID： PMC1734844          DOI： 10.1136/jmg.38.4.e12

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  11 in total

Review 1.  Huntington's disease genetics.

Authors:  Richard H Myers
Journal:  NeuroRx       Date:  2004-04

2.  De novo Huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype.

Authors:  Gunnar Houge; Ove Bruland; Inga Bjørnevoll; Michael R Hayden; Alicia Semaka
Journal:  Neurology       Date:  2013-08-14       Impact factor: 9.910

3.  Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS.

Authors:  Annie Killoran; Kevin M Biglan; Joseph Jankovic; Shirley Eberly; Elise Kayson; David Oakes; Anne B Young; Ira Shoulson
Journal:  Neurology       Date:  2013-04-26       Impact factor: 9.910

4.  Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.

Authors:  Galen E B Wright; Jennifer A Collins; Chris Kay; Cassandra McDonald; Egor Dolzhenko; Qingwen Xia; Kristina Bečanović; Britt I Drögemöller; Alicia Semaka; Charlotte M Nguyen; Brett Trost; Fiona Richards; Emilia K Bijlsma; Ferdinando Squitieri; Colin J D Ross; Stephen W Scherer; Michael A Eberle; Ryan K C Yuen; Michael R Hayden
Journal:  Am J Hum Genet       Date:  2019-05-16       Impact factor: 11.025

5.  "Grasping the grey": patient understanding and interpretation of an intermediate allele predictive test result for Huntington disease.

Authors:  A Semaka; L G Balneaves; M R Hayden
Journal:  J Genet Couns       Date:  2012-08-18       Impact factor: 2.537

Review 6.  Prospects for neuroprotective therapies in prodromal Huntington's disease.

Authors:  Abhishek Chandra; Ashu Johri; M Flint Beal
Journal:  Mov Disord       Date:  2014-02-26       Impact factor: 10.338

7.  Huntington disease reduced penetrance alleles occur at high frequency in the general population.

Authors:  Chris Kay; Jennifer A Collins; Zosia Miedzybrodzka; Steven J Madore; Erynn S Gordon; Norman Gerry; Mark Davidson; Ramy A Slama; Michael R Hayden
Journal:  Neurology       Date:  2016-06-22       Impact factor: 9.910

8.  Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).

Authors:  Audrey E Hendricks; Jeanne C Latourelle; Kathryn L Lunetta; L Adrienne Cupples; Vanessa Wheeler; Marcy E MacDonald; James F Gusella; Richard H Myers
Journal:  Am J Med Genet A       Date:  2009-07       Impact factor: 2.802

9.  Repeat instability in the 27-39 CAG range of the HD gene in the Venezuelan kindreds: Counseling implications.

Authors:  D Brocklebank; J Gayán; J M Andresen; S A Roberts; A B Young; S R Snodgrass; J B Penney; M A Ramos-Arroyo; J J Cha; H D Rosas; S M Hersch; A Feigin; S S Cherny; N S Wexler; D E Housman; L R Cardon
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2009-04-05       Impact factor: 3.568

10.  CAG-Expansion Haplotype Analysis in a Population with a Low Prevalence of Huntington's Disease.

Authors:  Teeratorn Pulkes; Chutima Papsing; Sukanya Wattanapokayakit; Surakameth Mahasirimongkol
Journal:  J Clin Neurol       Date:  2014-01-06       Impact factor: 3.077
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