M. Town

发表

The production of normal and variant human glucose-6-phosphate dehydrogenase in cos cells.

T. Vulliamy, L. Luzzatto, N. Foulkes, 1988, European journal of biochemistry.

Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific).

T. Vulliamy, J. Clegg, D. Weatherall, 1995, American journal of human genetics.

Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation

A. MacKenzie, H. Heick, J. McGowan-Jordan, 1999, European Journal of Human Genetics.

Linkage disequilibrium of polymorphic sites in the G6PD gene in African populations and the origin of G6PD A-.

T. Vulliamy, L. Luzzatto, A. Nathwani, 1991, Gene geography : a computerized bulletin on human gene frequencies.

Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.

M. D'urso, V. Poggi, T. Vulliamy, 1988, Proceedings of the National Academy of Sciences of the United States of America.

Genetic and other sources of variation in the activity of serum paraoxonase/diazoxonase in humans: consequences for risk from exposure to diazinon

R. Edwards, A. Boobis, K. O'Leary, 2005, Pharmacogenetics and genomics.

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

C. Antignac, S. Cherqui, L. Forestier, 1999, Human molecular genetics.

High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.

O. Gribouval, C. Antignac, P. Niaudet, 1996, American journal of human genetics.

Molecular heterogeneity underlying the G6PD Mediterranean phenotype

T. Vulliamy, L. Luzzatto, P. Mason, 1992, Human Genetics.

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

O. Gribouval, C. Antignac, G. Bates, 1998, Nature Genetics.

Linkage of the gene for cystinosis to markers on the short arm of chromosome 17

M. Polymeropoulos, J. Weissenbach, C. Mathew, 1995, Nature Genetics.

Clinical and molecular aspects of nephropathic cystinosis

W. Gahl, G. McDowell, M. Town, 1998, Journal of Molecular Medicine.

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

C. Antignac, S. Cherqui, L. Forestier, 1999, American journal of human genetics.

Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype.

L. Luzzatto, J. Bautista, P. Mason, 1992, Human molecular genetics.

CDKN2B expression in adipose tissue of familial combined hyperlipidemia patients[S]

Hetal N. Patel, S. Horswell, M. Salm, 2013, Journal of Lipid Research.

Immunolocalization of cystinosin, the protein defective in cystinosis.

C. Antignac, A. Woolf, M. Gubler, 2002, Journal of the American Society of Nephrology : JASN.

Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-.

T. Vulliamy, L. Luzzatto, A. Nathwani, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Genetic association of the serotonin transporter in pulmonary arterial hypertension.

Eric W. Glissmeyer, J. Carlquist, W. Seeger, 2006, American journal of respiratory and critical care medicine.

Favism in the African type of glucose-6-phosphate dehydrogenase deficiency (A-).

L. Luzzatto, G. Gaetani, S. Galiano, 1990, BMJ.

New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia.

M. Sonati, P. Mason, J. Kaeda, 1995, Blood.

Intragenic interspecific complementation of glucose 6-phosphate dehydrogenase in human-hamster cell hybrids

L. Luzzatto, M. Athanasiou-Metaxa, M. Town, 1990, Somatic cell and molecular genetics.

Structure of the Human Sarco/Endoplasmic Reticulum Ca2+-ATPase 3 Gene

F. Wuytack, Christine De Greef, L. Dode, 1998, The Journal of Biological Chemistry.

Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13.

D. Ledbetter, M. Polymeropoulos, J. Weissenbach, 1996, Biochemical and molecular medicine.

Identification of a single base change in a new human mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain-reaction amplification of the entire coding region from genomic DNA.

V. Poggi, L. Luzzatto, N. Foulkes, 1990, The Biochemical journal.

Genome-Wide Scan for Premature Hypertension Supports Linkage to Chromosome 2 in a Large Kyrgyz Family

M. Wilkins, L. Mamanova, A. Aldashev, 2006, Hypertension.

X-linked somatic-cell selection and polycythemia rubra vera.

L. Luzzatto, G. Esan, C. K. Williams, 1984, The New England journal of medicine.