Elena Prigmore

Elena Prigmore

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Elena Prigmore

Elena Prigmore

Publications by authors named "Elena Prigmore"

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24Publications

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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Nat Genet 2016 09 1;48(9):1060-5. Epub 2016 Aug 1.

Wellcome Trust Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988037PMC
September 2016

UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene.

Hum Mutat 2013 Dec 7;34(12):1650-61. Epub 2013 Oct 7.

Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1002/humu.22433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4028990PMC
December 2013

A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.

Eur J Med Genet 2012 Nov 20;55(11):660-5. Epub 2012 Jul 20.

Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Rua Tessália Vieira de Camargo, 126 CEP 13083-887 Campinas, São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.ejmg.2012.06.015DOI Listing
November 2012

Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays.

Nat Protoc 2009 5;4(12):1722-36. Epub 2009 Nov 5.

Human Genetics, Sulston Laboratories, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.

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http://dx.doi.org/10.1038/nprot.2009.183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330750PMC
February 2010

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.

Eur J Hum Genet 2005 Nov;13(11):1205-12

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201488DOI Listing
November 2005

Chromosome paints from single copies of chromosomes.

Chromosome Res 2004 ;12(2):143-51

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

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September 2004

Requirement for PI 3-kinase gamma in macrophage migration to MCP-1 and CSF-1.

Exp Cell Res 2003 Oct;290(1):120-31

Randall Centre, King's College London, New Hunt's House, Guy's Campus, London SE1 1UL, UK.

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http://dx.doi.org/10.1016/s0014-4827(03)00318-5DOI Listing
October 2003