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Results: 1-17 |
Results: 17
A distant upstream promoter of the HNF-4 alpha gene connects the transcription factors involved in maturity-onset diabetes of the young
Authors: Thomas, H Jaschkowitz, K Bulman, M Frayling, TM Mitchell, SMS Roosen, S Lingott-Frieg, A Tack, CJ Ellard, S Ryffel, GU Hattersley, AT
Citation: H. Thomas et al., A distant upstream promoter of the HNF-4 alpha gene connects the transcription factors involved in maturity-onset diabetes of the young, HUM MOL GEN, 10(19), 2001, pp. 2089-2097
beta-cell genes and diabetes - Molecular and clinical characterization of mutations in transcription factors
Authors: Frayling, TM Evans, JC Bulman, MP Pearson, E Allen, L Owen, K Bingham, C Hannemann, M Shepherd, M Ellard, S Hattersley, AT
Citation: Tm. Frayling et al., beta-cell genes and diabetes - Molecular and clinical characterization of mutations in transcription factors, DIABETES, 50, 2001, pp. S94-S100
beta-cell genes and diabetes: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1 alpha and glucokinase mutations
Authors: Pearson, ER Velho, G Clark, P Stride, A Shepherd, M Frayling, TM Bulman, MP Ellard, S Froguel, P Hattersley, AT
Citation: Er. Pearson et al., beta-cell genes and diabetes: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1 alpha and glucokinase mutations, DIABETES, 50, 2001, pp. S101-S107
Studies of association between the gene for calpain-10 and type 2 diabetesmellitus in the United Kingdom
Authors: Evans, JC Frayling, TM Cassell, PG Saker, PJ Hitman, GA Walker, M Levy, JC O'Rahilly, S Rao, PVS Bennett, AJ Jones, EC Menzel, S Prestwich, P Simecek, N Wishart, M Dhillon, R Fletcher, C Millward, A Demaine, A Wilkin, T Horikawa, Y Cox, NJ Bell, GI Ellard, S McCarthy, MI Hattersley, AT
Citation: Jc. Evans et al., Studies of association between the gene for calpain-10 and type 2 diabetesmellitus in the United Kingdom, AM J HU GEN, 69(3), 2001, pp. 544-552
A genomewide scan for loci predisposing to type 2 diabetes in a UK population (the Diabetes UK Warren 2 repository): Analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q
Authors: Wiltshire, S Hattersley, AT Hitman, GA Walker, M Levy, JC Sampson, M O'Rahilly, S Frayling, TM Bell, JI Lathrop, GM Bennett, A Dhillon, R Fletcher, C Groves, CJ Jones, E Prestwich, P Simecek, N Rao, PVS Wishart, M Foxon, R Howell, S Smedley, D Cardon, LR Menzel, S McCarthy, MI
Citation: S. Wiltshire et al., A genomewide scan for loci predisposing to type 2 diabetes in a UK population (the Diabetes UK Warren 2 repository): Analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q, AM J HU GEN, 69(3), 2001, pp. 553-569
Clinical consequences of defects in beta-cell genes
Authors: Evans, JC Frayling, TM Hattersley, AT
Citation: Jc. Evans et al., Clinical consequences of defects in beta-cell genes, ENDOC UPD S, 11, 2001, pp. 325-336
Mutations in the human Delta homologue, DLL3, cause axial skeletal defectsin spondylocostal dysostosis
Authors: Bulman, MP Kusumi, K Frayling, TM McKeown, C Garrett, C Lander, ES Krumlauf, R Hattersley, AT Ellard, S Turnpenny, PD
Citation: Mp. Bulman et al., Mutations in the human Delta homologue, DLL3, cause axial skeletal defectsin spondylocostal dysostosis, NAT GENET, 24(4), 2000, pp. 438-441
Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31
Authors: Evans, JC Frayling, TM Ellard, S Gutowski, NH
Citation: Jc. Evans et al., Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31, HUM GENET, 106(6), 2000, pp. 636-638
Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes
Authors: Macfarlane, WM Frayling, TM Ellard, S Evans, JC Allen, LIS Bulman, MP Ayers, S Shepherd, M Clark, P Millward, A Demaine, A Wilken, T Docherty, K Hattersley, AT
Citation: Wm. Macfarlane et al., Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes, J CLIN INV, 106(5), 2000, pp. 717-717
No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians
Authors: Frayling, TM McCarthy, MI Walker, M Levy, JC O'Rahilly, S Hitman, GA Rao, PVS Bennett, AJ Jones, EC Menzel, S Ellard, S Hattersley, AT
Citation: Tm. Frayling et al., No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians, J CLIN END, 85(2), 2000, pp. 853-857
Intermediate expansions of a X25/frataxin gene GAA repeat and Type II diabetes: assessment using parent-offspring trios
Authors: Lynn, S Hattersley, AT McCarthy, MI Frayling, TM Turnbull, DM Walker, M
Citation: S. Lynn et al., Intermediate expansions of a X25/frataxin gene GAA repeat and Type II diabetes: assessment using parent-offspring trios, DIABETOLOG, 43(3), 2000, pp. 384-385
Evidence that single nucleotide polymorphism in the uncoupling protein 3 (UCP3) gene influences fat distribution in women of European and Asian origin
Authors: Cassell, PG Saker, PJ Huxtable, SJ Kousta, E Jackson, AE Hattersley, AT Frayling, TM Walker, M Kopelman, PG Ramachandran, A Snehelatha, C Hitman, GA McCarthy, MI
Citation: Pg. Cassell et al., Evidence that single nucleotide polymorphism in the uncoupling protein 3 (UCP3) gene influences fat distribution in women of European and Asian origin, DIABETOLOG, 43(12), 2000, pp. 1558-1564
Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III variable number tandem repeat alleles
Authors: Huxtable, SJ Saker, PJ Haddad, L Walker, M Frayling, TM Levy, JC Hitman, GA O'Rahilly, S Hattersley, AT McCarthy, MI
Citation: Sj. Huxtable et al., Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III variable number tandem repeat alleles, DIABETES, 49(1), 2000, pp. 126-130
Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes
Authors: Macfarlane, WM Frayling, TM Ellard, S Evans, JC Allen, LIS Bulman, MP Ayres, S Shepherd, M Clark, P Millward, A Demaine, A Wilkin, T Docherty, K Hattersley, AT
Citation: Wm. Macfarlane et al., Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes, J CLIN INV, 104(9), 1999, pp. R33-R39
Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1 alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young
Authors: Ellard, S Bulman, MP Frayling, TM Allen, LIS Dronsfield, MJ Tack, CGJ Hattersley, AT
Citation: S. Ellard et al., Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1 alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young, DIABETES, 48(4), 1999, pp. 921-923
Parent-offspring trios - A resource to facilitate the identification of type 2 diabetes genes
Authors: Frayling, TM Walker, M McCarthy, MI Evans, JC Allen, LI Lynn, S Ayres, S Millauer, B Turner, C Turner, RC Sampson, MJ Hitman, GA Ellard, S Hattersley, AT
Citation: Tm. Frayling et al., Parent-offspring trios - A resource to facilitate the identification of type 2 diabetes genes, DIABETES, 48(12), 1999, pp. 2475-2479
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
Authors: Turnpenny, PD Bulman, MP Frayling, TM Abu-Nasra, TK Garrett, C Hattersley, AT Ellard, S
Citation: Pd. Turnpenny et al., A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3, AM J HU GEN, 65(1), 1999, pp. 175-182
Risultati: 1-17 |