[BOOK][B] High pressure vessels

DM Fryer, JF Harvey, DM Fryer, JF Harvey - 1998 - Springer
Ultra high strength vessels first came on the scene in the thirteenth century with the advent of
the military cannon. Little was known of their stress analysis and design, and sizing was on a …

Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing

HE White, VJ Durston, A Seller, C Fratter, JF Harvey… - Genetic …, 2005 - liebertpub.com
Disease-causing mutations in mitochondrial DNA (mtDNA) are typically heteroplasmic and
therefore interpretation of genetic tests for mitochondrial disorders can be problematic …

The glutamine 27 β2-adrenoceptor polymorphism is associated with elevated IgE levels in asthmatic families

JC Dewar, J Wilkinson, A Wheatley, NS Thomas… - Journal of allergy and …, 1997 - Elsevier
Background: The β2-adrenoceptor polymorphisms occurring at amino acid positions 16
(arginine to glycine) and 27 (glutamine to glutamate) are known to be functionally relevant …

Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis

JA Crolla, JF Harvey, FL Sitch, NR Dennis - Human genetics, 1995 - Springer
Seventeen patients presenting with either de novo or familial supernumerary marker (mar)
15 chromosomes were shown by fluorescent in situ hybridization techniques (FISH) to have …

Quantitative Analysis of SRNPN Gene Methylation by Pyrosequencing as a Diagnostic Test for Prader–Willi Syndrome and Angelman Syndrome

HE White, VJ Durston, JF Harvey… - Clinical …, 2006 - academic.oup.com
Background: Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are 2 distinct
neurodevelopmental disorders caused primarily by deficiency of specific parental …

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature

NS Thomas, JF Harvey, DJ Bunyan… - American Journal of …, 2009 - Wiley Online Library
Deletions of the SHOX gene are well documented and cause disproportionate short stature
and variable skeletal abnormalities. In contrast interstitial SHOX duplications limited to PAR1 …

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 …

DJ Bunyan, KR Baker, JF Harvey… - American Journal of …, 2013 - Wiley Online Library
Léri–Weill dyschondrosteosis (LWD) results from heterozygous mutations of the SHOX
gene, with homozygosity or compound heterozygosity resulting in the more severe form …

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

R Howarth, C Yearwood, JF Harvey - Genetic Testing, 2007 - liebertpub.com
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by
mutations in the fibrillin-1 gene FBN1. Mutation detection of this 65-exon gene presents a …

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

DJ Bunyan, AC Skinner, EJ Ashton, J Sillibourne… - Molecular …, 2007 - Springer
Abstract The Multiplex Ligation-dependent Probe Amplification assay (MLPA) is the method
of choice for the initial mutation screen in the analysis of a large number of genes where …

Toward a definition of international and comparative library science

JF Harvey - International library review, 1973 - Taylor & Francis
There seems to be no extensive definitional literature of international and comparative
library science. Of course, this paper is not the first one of its kind--Bereday, 1 Simsova, 2 …