J. Harvey

发表

The glutamine 27 beta2-adrenoceptor polymorphism is associated with elevated IgE levels in asthmatic families.

I. Hall, N. Morton, A. Wheatley, 1997, The Journal of allergy and clinical immunology.

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

J. Harvey, C. Yearwood, R. Howarth, 2007, Genetic testing.

A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?

I. Temple, I. Lerer, D. Abeliovich, 1999, American journal of human genetics.

Three‐generation transmission of Hirschsprung's disease

A. Lipson, J. Harvey, 1987, Clinical genetics.

A centromere map of the X chromosome from trisomies of maternal origin

N. Morton, P. Jacobs, B. Keats, 1990, Annals of human genetics.

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

J. Crolla, F. L. Sitch, J. Harvey, 1995, Human Genetics.

A novel 3′ mutation in the APC gene in a family presenting with a desmoid tumour

A. Bateman, D. Eccles, F. Ross, 2001, Journal of medical genetics.

Trisomy 18: studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction.

N. Morton, P. Jacobs, J. Harvey, 1995, American journal of human genetics.

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

N. Cross, H. White, J. Harvey, 2006 .

The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination.

N E Morton, N. Morton, M. MacDonald, 1994, Human molecular genetics.

The parental origin of 47,XXY males.

P. Jacobs, T. Hassold, D. Pettay, 1990, Birth defects original article series.

Familial X-linked mental retardation with an X chromosome abnormality.

S. Wiener, J. Harvey, C. Judge, 1977, Journal of medical genetics.

Molecular studies of trisomy 18.

P. Jacobs, J. Harvey, P. Boyd, 1993, American journal of human genetics.

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

N. S. Thomas, J. Rankin, S. Tomkins, 2009, American journal of medical genetics. Part A.

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

N. Cross, H. White, J. Harvey, 2006, Clinical chemistry.

A linkage study of a large pedigree with X linked centronuclear myopathy.

L. Iselius, J. Heckmatt, J. Harvey, 1990, Journal of medical genetics.

A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study.

J. Crolla, P. Jacobs, M. Mackenzie, 1992, Journal of medical genetics.

cytogenetic and molecular study

J. Crolla, P. Jacobs, J. Starr, 2022 .

Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype–phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

A. Collins, D. Bunyan, C. Turner, 2009, American journal of medical genetics. Part A.

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

A. Collins, N. Cross, T. Brown, 2007, Molecular biotechnology.

'Mirror image' chromosome No. 21.

R. Birner, S. Wiener, J. Harvey, 1977, Journal of medical genetics.

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

I. Frayling, S. Farrington, M. Dunlop, 2004, Familial Cancer.

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

N. S. Thomas, J. Harvey, D. Bunyan, 2013, American journal of medical genetics. Part A.

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

Helen E White, Nicholas C P Cross, A. Seller, 2005, Genetic testing.

A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour.

A. Bateman, D. Eccles, F. Ross, 2001, Journal of medical genetics.

A reinvestigation of thirty three fragile(X) families using probe StB12.3.

P. Jacobs, F. Rousseau, T. Webb, 1992, American journal of medical genetics.

Molecular Probes—Technology and Medical Applications

J. Harvey, 1990 .

Mutation Scanning for the Clinical Laboratory

J. Sampson, J. Harvey, 2004 .