Literature DB >> 14627690

Diagnosis of gene dosage alterations at the PMP22 gene using MAPH.

S M Akrami1, J S Rowland, G R Taylor, J A L Armour.   

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Year:  2003        PMID： 14627690      PMCID： PMC1735306          DOI： 10.1136/jmg.40.11.e123

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


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  5 in total

1.  PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.

Authors:  Patricia Combes; Marie-Noelle Bonnet-Dupeyron; Fernande Gauthier-Barichard; Raphael Schiffmann; Enrico Bertini; Diana Rodriguez; John A L Armour; Odile Boespflug-Tanguy; Catherine Vaurs-Barrière
Journal:  Neurogenetics       Date:  2006-01-17       Impact factor: 2.660

2.  Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.

Authors:  Pawandeep Dhami; Alison J Coffey; Stephen Abbs; Joris R Vermeesch; Jan P Dumanski; Karen J Woodward; Robert M Andrews; Cordelia Langford; David Vetrie
Journal:  Am J Hum Genet       Date:  2005-03-08       Impact factor: 11.025

3.  A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.

Authors:  Chia-Yun Lin; Yi-Ning Su; Chien-Nan Lee; Chia-Cheng Hung; Wen-Fang Cheng; Win-Li Lin; Chi-An Chen; Sung-Tsang Hsieh
Journal:  J Hum Genet       Date:  2006-02-04       Impact factor: 3.172

4.  Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH.

Authors:  Seyed Mohammad Akrami; Malcolm G Dunlop; Susan M Farrington; Ian M Frayling; Fiona MacDonald; John F Harvey; John A L Armour
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

5.  Microarray MAPH: accurate array-based detection of relative copy number in genomic DNA.

Authors:  Brian Gibbons; Parikkhit Datta; Ying Wu; Alan Chan; John Al Armour
Journal:  BMC Genomics       Date:  2006-06-30       Impact factor: 3.969
  5 in total

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