Literature DB >> 12362038

8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?

C H Tsai, S L Graw, L McGavran.   

Abstract

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Year:  2002        PMID： 12362038      PMCID： PMC1734989          DOI： 10.1136/jmg.39.10.769

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


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  7 in total

1.  Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster.

Authors:  E J Hollox; J A L Armour; J C K Barber
Journal:  Am J Hum Genet       Date:  2003-08-12       Impact factor: 11.025

2.  3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.

Authors:  Jörn Oliver Sass; Melanie Walter; Julian P H Shield; Andrea M Atherton; Uttam Garg; David Scott; C Geoffrey Woods; Laurie D Smith
Journal:  J Inherit Metab Dis       Date:  2011-08-24       Impact factor: 4.982

3.  Genomic profile of copy number variants on the short arm of human chromosome 8.

Authors:  Shihui Yu; Stephanie Fiedler; Andrew Stegner; William D Graf
Journal:  Eur J Hum Genet       Date:  2010-05-12       Impact factor: 4.246

Review 4.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

5.  8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.

Authors:  John Ck Barber; Dave Bunyan; Merryl Curtis; Denise Robinson; Susanne Morlot; Anette Dermitzel; Thomas Liehr; Claudia Alves; Joana Trindade; Ana I Paramos; Clare Cooper; Kevin Ocraft; Emma-Jane Taylor; Viv K Maloney
Journal:  Mol Cytogenet       Date:  2010-02-18       Impact factor: 2.009

6.  Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.

Authors:  Mary Glancy; Angela Barnicoat; Rajan Vijeratnam; Sharon de Souza; Joanne Gilmore; Shuwen Huang; Viv K Maloney; N Simon Thomas; David J Bunyan; Ann Jackson; John C K Barber
Journal:  Eur J Hum Genet       Date:  2008-08-20       Impact factor: 4.246

7.  Novel Insight Into the Etiology of Autism Spectrum Disorder Gained by Integrating Expression Data With Genome-wide Association Statistics.

Authors:  Oliver Pain; Andrew J Pocklington; Peter A Holmans; Nicholas J Bray; Heath E O'Brien; Lynsey S Hall; Antonio F Pardiñas; Michael C O'Donovan; Michael J Owen; Richard Anney
Journal:  Biol Psychiatry       Date:  2019-05-11       Impact factor: 13.382
  7 in total

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