Literature DB >> 12791044

A quantitative polymerase chain reaction method for determining copy number within the Prader-Willi/Angelman syndrome critical region.

S E Roberts, N S Thomas.   

Abstract

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Year:  2003        PMID： 12791044     DOI： 10.1034/j.1399-0004.2003.00094.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  Functional disomy resulting from duplications of distal Xq in four unrelated patients.

Authors:  Katherine L Lachlan; Morag N Collinson; Richard O C Sandford; Berendine van Zyl; Patricia A Jacobs; N Simon Thomas
Journal:  Hum Genet       Date:  2004-08-24       Impact factor: 4.132

2.  Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.

Authors:  S E Roberts; F Maggouta; N S Thomas; P A Jacobs; J A Crolla
Journal:  Am J Hum Genet       Date:  2003-10-14       Impact factor: 11.025

3.  An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.

Authors:  M Arenas; L D Fairbanks; K Vijayakumar; L Carr; E Escuredo; A M Marinaki
Journal:  J Inherit Metab Dis       Date:  2009-06-20       Impact factor: 4.982
  3 in total

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