A. Roberts

发表

Systemic lactose intolerance: a new perspective on an old problem

A. Campbell, J. Waud, S. Matthews, 2005, Postgraduate Medical Journal.

Characterization of a large genomic deletion in four Irish families with C7 deficiency.

C. Feighery, B. Morgan, A. Roberts, 2012, Molecular immunology.

Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.

J. Deybach, H. Puy, R. Morgan, 1999, American journal of human genetics.

Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda

M. Worwood, R. Morgan, G. Elder, 1997, The Lancet.

Depletion of iNOS-derived nitric oxide by prostaglandin H synthase-2 in inflammation-activated J774.2 macrophages through lipohydroperoxidase turnover.

Stephen R. Clark, L. Marnett, V. O’Donnell, 2005, The Biochemical journal.

Endogenous Thrombopoietin Levels and Effect of Recombinant Human Thrombopoietin on Megakaryocyte Precursors in Term and Preterm Babies

A. Roberts, N. Murray, T. Watts, 1998, Pediatric Research.

Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.

R. Desnick, H. Yoo, A. Roberts, 1992, The Journal of clinical investigation.

Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.

M. Worwood, R. Morgan, G. Elder, 2000, The Journal of investigative dermatology.

Uroporphyrinogen decarboxylase

G. Elder, A. Roberts, 1995, Journal of bioenergetics and biomembranes.

The frequency of hemochromatosis‐associated alleles is increased in British patients with sporadic porphyria cutanea tarda

M. Worwood, Jennifer J. Pointon, G. Elder, 1997, Hepatology.

an old problem Systemic lactose intolerance: a new perspective on

A. Campbell, J. Waud, S. Matthews, 2005 .

Circulating megakaryocytes and their progenitors (BFU‐MK and CFU‐MK) in term and pre‐term neonates

A. Roberts, N. A. Murry, 1995, British journal of haematology.

A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria

A. Corrigall, P. Meissner, M. Ziman, 1996, Nature Genetics.

A Novel Mutation in a Patient with a Deficiency of the Eighth Component of Complement Associated with Recurrent Meningococcal Meningitis

B. Ferry, H. Chapel, B. Morgan, 2009, Journal of Clinical Immunology.

Heterogeneity of familial porphyria cutanea tarda.

R. Newcombe, G. Elder, A. Roberts, 1988, Journal of medical genetics.

Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects.

G. Elder, A. Roberts, R. E. de Salamanca, 1989, Clinical biochemistry.

Prevalence of the 281 (Gly→Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda

B. Grandchamp, G. Elder, Y. Nordmann, 2004, Human Genetics.

Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity

G. Elder, A. Roberts, N. Simon, 1990, The British journal of dermatology.

Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene

G. Elder, A. Roberts, C. Garrett, 2000, Human Genetics.

Purification and properties of uroporphyrinogen decarboxylase from human erythrocytes.

G. Elder, A. Roberts, 1997, Methods in enzymology.

Uroporphyria produced in mice by 20-methylcholanthrene and 5-aminolaevulinic acid.

G. Elder, P. Sinclair, A. Roberts, 1988, The Biochemical journal.

Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family.

H. Henderson, B. Morgan, A. Roberts, 2007, Molecular immunology.

An alternatively‐spliced exon in the 5′‐UTR of human ALAS1 mRNA inhibits translation and renders it resistant to haem‐mediated decay

A. Roberts, D. Llewellyn, Sadie Redding, 2005, FEBS letters.

Molecular characterization of homozygous variegate porphyria.

J. Deybach, H. Puy, P. Martásek, 1998, Human molecular genetics.

Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern

G. Elder, A. Roberts, P. C. Sharpe, 2004, The British journal of dermatology.

A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.

G. Elder, M. Lecha, A. Roberts, 1995, The Journal of investigative dermatology.

Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.

M. F. Stewart, M. Badminton, G. Elder, 2009, The Journal of investigative dermatology.

The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading

M. Worwood, Jennifer J. Pointon, K. Robson, 2004, Journal of Medical Genetics.

Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3.

P. Harrison, G. Elder, A. Roberts, 1996, Journal of medical genetics.

DNA Polymorphisms and Fetal Sexing for X-Linked Disorders with Chorionic Biopsy

P. Harper, M. Upadhyaya, A. Roberts, 1985 .

Alternative splicing and tissue-specific transcription of human and rodent ubiquitous 5-aminolevulinate synthase (ALAS1) genes.

G. Elder, A. Roberts, 2001, Biochimica et Biophysica Acta.

Chorion villus sampling in X-linked genetic disorders

P. Harper, M. Upadhyaya, A. Roberts, 1987 .

Complement component C6 deficiency in the Western Cape, South Africa; segregation of four genetic defects

B. Morgan, A. Roberts, F. Leisegang, 2007 .

De-novo mutation and sporadic presentation of acute intermittent porphyria

G. Elder, A. Roberts, S. Whatley, 1995, The Lancet.

Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23.

M. Owen, G. Elder, A. Roberts, 1995, Human molecular genetics.