A metabolomic comparison of urinary changes in type 2 diabetes in mouse, rat, and human

Reza M. Salek, Mahon L. Maguire, Elizabeth Bentley, +9

Physiological Genomics

Metabolic DisorderUrinary ChangesInsulin SignalingMetabolomic ComparisonObesity +17

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

Lesley McGregor, Ville Makela, S. M. Darling, +22

Nature Genetics

Fraser SyndromeFibrosisDevelopmental BiologyMendelian DisorderGenetic Disorder +7

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

Shalini Jadeja, Ian Smyth, Jolanta E. Pitera, +13

Nature Genetics

Fraser SyndromeDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +10

Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours

PaulA. Crossey, Keith Foster, FrancesM. Richards, +11

Human Genetics

Somatic VariantGenetic DisorderMedicineGeneticsPathology +9

Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22

Keith Foster, PA Crossey, P Cairns, +6

British Journal of Cancer

UrologySomatic VariantGenitourinary CancerTumor HeterogeneityMedicine +9

Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis

Eamonn R. Maher, Elizabeth Bentley, John R.W. Yates, +5

Genomics

Small RegionCytogeneticsChromosome 3PGeneticsGenetic Disorder +7

Mapping of Von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis

Eamonn R. Maher, Elizabeth Bentley, John R.W. Yates, +8

Journal of the Neurological Sciences

Mendelian DisorderGenetic DisorderGeneticsLinkage AnalysisPathology +6

Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the <i>Bacillus subtilis</i> homologue

Carole A. Sargent, N. Affara, Elizabeth Bentley, +8

Human Molecular Genetics

The Identification of Novel Gene Sequences of the Human Adult Testis

Nabeel A. Affara, Elizabeth Bentley, Phillip Davey, +2

Genomics

BiologyGenetic AnalysisGenetic TestingGeneticsNovel Gene Sequences +12

Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers.

Eamonn R. Maher, Elizabeth Bentley, Stewart J. Payne, +7

Journal of Medical Genetics