H. Middleton-Price

发表

A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.

W. Reardon, L. Sandkuijl, S. Malcolm, 1991, Genomics.

Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.

C. Meischl, A. Segal, M. de Boer, 1996, Blood.

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

S. Humphries, H. Middleton-Price, M. Boxer, 2001, European Journal of Human Genetics.

N‐ras‐like sequences on chromosomes 9, 6 and 22 with a polymorphism at the chromosome 9 locus

A. Hall, N. Spurr, S. Malcolm, 1988, Annals of human genetics.

Is the UK public ready for genetic medicine?

M. Boon, D. Donnai, H. Middleton-Price, 2008, Personalized medicine.

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing

S. Humphries, E. Hawe, A. Wierzbicki, 2006, Journal of Molecular Medicine.

Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning.

J. Hurst, S. Malcolm, E. Young, 1992, American journal of medical genetics.

The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22–24)

P. Talmud, J. Scott, C. Shoulders, 1997, Prenatal diagnosis.

Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.

A. Harding, S. Malcolm, J. Berciano, 1990, American journal of human genetics.

Close linkage of PUM and SPTA within chromosome band 1q21

S. Malcolm, S. Gendler, H. Middleton-Price, 1988, Annals of human genetics.

Quality Assurance in Molecular Diagnosis : The UK Experience.

H. Middleton-Price, S. Stenhouse, 1996, Methods in molecular medicine.

The ontogeny of gaba receptors and glutamic acid decarboxylase in regions of the rat brain Effect of prenatal exposure to diazepam

V. Bigl, T. Rothe, H. Middleton-Price, 1988, Neuropharmacology.

Genetic and clinical heterogeneity of Stickler syndrome.

I. Temple, S. Malcolm, M. Baraitser, 1991, American journal of medical genetics.

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation

K. Davies, S. Knight, B. Oostra, 1993, Cell.

FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].

J. Opitz, M. Pembrey, C. Moraine, 2002, American journal of medical genetics.

Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations

H. Middleton-Price, T. Cranston, S. Genet, 2000, Journal of Inherited Metabolic Disease.

Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial

S. Humphries, M. Bobrow, T. Marteau, 2004, American journal of medical genetics. Part A.

Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease

Dirk Roos, Anthony W. Segal, H Middleton-Price, 1996 .

A gene for FG syndrome maps in the Xq12-q21.31 region.

C. Romano, A. Poustka, M. Pembrey, 1997, American journal of medical genetics.

Identification of deletions in thebtk gene allows unambiguous assessment of carrier status in families with X-linked agammaglobulinaemia

D. Bentley, D. Vetrie, R. Lovering, 1994, Human Genetics.

Clinical and genetic heterogeneity in X-linked deafness.

W. Reardon, S. Malcolm, L. Luxon, 1992, British journal of audiology.

Carrier determination for X-linked agammaglobulinemia using X inactivation analysis of purified B cells.

R. Lovering, R. Levinsky, S. Malcolm, 1993, Journal of immunological methods.

Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy.

K. Davies, D. Love, T. Flint, 1991, Journal of medical genetics.

Regional chromosomal localisation of APOA2 to 1q21–1q23

J. Scott, S. Malcolm, H. Middleton-Price, 1988, Human Genetics.

The major cystic fibrosis mutation in a British population

M. Pembrey, S. Malcolm, H. Middleton-Price, 1990, Human Genetics.

minigenes and gene therapy . deletion : implications for functional with a large intragenic dystrophin Becker muscular dystrophy patient

K. Davies, D. Love, T. Flint, 2022 .

Reply to “Meiotic drive and myotonic dystrophy”

L. Peltonen, S. Malcolm, M. Anvret, 1995, Nature Genetics.

Meiotic drive at the myotonic dystrophy locus?

L. Peltonen, S. Malcolm, M. Anvret, 1994, Nature Genetics.

Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories

M. Tassabehji, D. Barton, G. Taylor, 1995, Human mutation.

Confirmation of linkage of Sjögren-Larsson syndrome to chromosome 17 in families of different ethnic origins.

H. Middleton-Price, J. Harper, M. Lacour, 1996, Journal of medical genetics.

Physical mapping identifies DXS265 as a useful genetic marker for carrier detection and prenatal diagnosis of X-linked agammaglobulinemia

R. Levinsky, S. Malcolm, C. Kinnon, 1993, Human Genetics.

Norrie disease gene: characterization of deletions and possible function.

E. Battinelli, H. Middleton-Price, X. Breakefield, 1993, Genomics.

Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers.

J. Pastor, A. Harding, S. Malcolm, 1989, Genomics.