D. Bonthron

发表

A locus for isolated cleft palate, located on human chromosome 2q32.

A. Green, D. Bonthron, A. Markham, 1999, American journal of human genetics.

Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline

E. Sheridan, B. Hayward, H. Picton, 2003, BMC Genetics.

PMS2 mutations in childhood cancer

E. Sheridan, B. Hayward, M. De Vos, 2005, Gut.

Structure and alternative splicing of the ketohexokinase gene.

D. Bonthron, B. Hayward, D. Bonthron, 1998, European journal of biochemistry.

Parental origin of transcription from the human GNAS1 gene.

D. Bonthron, C. Gosden, D. Bonthron, 1994, Journal of medical genetics.

Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly.

M. Korbonits, A. Grossman, A. Barlier, 2001, The Journal of clinical investigation.

cDNA cloning, genomic organization, and chromosomal localization of a novel human gene that encodes a kinesin-related protein highly similar to mouse Kif3C.

E. Telford, A. Markham, J. Leek, 1998, Biochemical and biophysical research communications.

The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.

D. Bonthron, Y. Hayashizaki, B. Hayward, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Human glucokinase regulatory protein (GCKR): cDNA and genomic cloning, complete primary structure, and chromosomal localization

A. Markham, J. Leek, D. Bonthron, 1995, Mammalian Genome.

Organization of the human glucokinase regulator gene GCKR.

A. Markham, J. Leek, B. Hayward, 1998, Genomics.

PMS2 mutations in HNPCC

E. Sheridan, B. Hayward, M. De Vos, 2004, Clinical genetics.

PMS2 mutations in childhood cancer.

E. Sheridan, B. Hayward, M. De Vos, 2006, Gut.

Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of Chromosome 2p23

D. Bonthron, A. Markham, J. Leek, 1996, Mammalian Genome.

An imprinted antisense transcript at the human GNAS1 locus.

D. Bonthron, B. Hayward, D. Bonthron, 2000, Human molecular genetics.

Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus.

D. Bonthron, A. Hoffman, T. Vu, 2000, Genomics.

Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.

S. Dimauro, Y. Goto, S. Tsujino, 1998, Biochemical and biophysical research communications.

Characterisation of the tumour suppressor gene ZAC in breast tissue

V. Speirs, D. Bonthron, Ema Valleley, 2006, Breast Cancer Research.

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

D. Bonthron, M. Porteous, J. Chelly, 2007, Journal of Medical Genetics.

Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes.

E. Sheridan, B. Hayward, M. De Vos, 2005, Biochemical Society transactions.

Molecular genetics of the human glucokinase regulator-fructokinase (GCKR-KHK) region of chromosome 2p23.

A. Markham, J. Leek, B. Hayward, 1997, Biochemical Society transactions.

Symptomatic eosinophilic gastritis cured with Helicobacter pylori eradication

B. Hayward, D. Bonthron, M. D. Vos, 2005, Gut.

Epithelial cells in bone marrow : do they matter ?

B. Hayward, D. Bonthron, M. D. Vos, 2005 .