Publications by authors named "John F Harvey"

8Publications

Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.

Am J Med Genet A 2013 Jun 1;161A(6):1329-38. Epub 2013 May 1.

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK.

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http://dx.doi.org/10.1002/ajmg.a.35919DOI Listing
June 2013

Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.

Genet Test 2007 ;11(2):146-52

Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Trust, Salisbury, Wiltshire, SP2 8BJ, UK.

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http://www.liebertpub.com/doi/10.1089/gte.2006.0514
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http://dx.doi.org/10.1089/gte.2006.0514DOI Listing
September 2007

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.

Mol Biotechnol 2007 Feb;35(2):135-40

National Genetics Reference Laboratory (Wessex), Salisbury Hospital NHS Trust, Salisbury, Wiltshire, SP2 8BJ.

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http://dx.doi.org/10.1007/BF02686108DOI Listing
February 2007

Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome.

Clin Chem 2006 Jun 30;52(6):1005-13. Epub 2006 Mar 30.

National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Odstock, Salisbury, Wiltshire, United Kingdom.

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http://dx.doi.org/10.1373/clinchem.2005.065086DOI Listing
June 2006

Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing.

Genet Test 2005 ;9(3):190-9

National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Odstock, Salisbury, Wiltshire, United Kingdom.

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http://dx.doi.org/10.1089/gte.2005.9.190DOI Listing
January 2006

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

Fam Cancer 2005 ;4(2):145-9

Institute of Genetics, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK.

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http://dx.doi.org/10.1007/s10689-004-6131-3DOI Listing
September 2005

Mutation scanning for the clinical laboratory: DHPLC.

Methods Mol Med 2004 ;92:45-66

Wessex Regional Genetics Laboratory, Salisbury Health Care NHS Trust, Salisbury District Hospital, Wiltshire, UK.

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http://dx.doi.org/10.1385/1-59259-432-8:45DOI Listing
April 2004