Frayling TM - Search Results

1

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S. Turnpenny PD, et al. Among authors: frayling tm. Am J Hum Genet. 1999 Jul;65(1):175-82. doi: 10.1086/302464. Am J Hum Genet. 1999. PMID: 10364530 Free PMC article.

2

Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.

Frayling TM, Bulamn MP, Ellard S, Appleton M, Dronsfield MJ, Mackie AD, Baird JD, Kaisaki PJ, Yamagata K, Bell GI, Bain SC, Hattersley AT. Frayling TM, et al. Diabetes. 1997 Apr;46(4):720-5. doi: 10.2337/diab.46.4.720. Diabetes. 1997. PMID: 9075818

3

A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes.

Frayling TM, Bulman MP, Appleton M, Hattersley AT, Ellard S. Frayling TM, et al. Hum Genet. 1997 Dec;101(3):351-4. doi: 10.1007/s004390050640. Hum Genet. 1997. PMID: 9439666

4

Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young.

Ellard S, Bulman MP, Frayling TM, Allen LI, Dronsfield MJ, Tack CJ, Hattersley AT. Ellard S, et al. Among authors: frayling tm. Diabetes. 1999 Apr;48(4):921-3. doi: 10.2337/diabetes.48.4.921. Diabetes. 1999. PMID: 10102714 No abstract available.

5

Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes.

Macfarlane WM, Frayling TM, Ellard S, Evans JC, Allen LI, Bulman MP, Ayres S, Shepherd M, Clark P, Millward A, Demaine A, Wilkin T, Docherty K, Hattersley AT. Macfarlane WM, et al. Among authors: frayling tm. J Clin Invest. 1999 Nov;104(9):R33-9. doi: 10.1172/JCI7449. J Clin Invest. 1999. PMID: 10545530 Free PMC article.

6

Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes.

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. Frayling TM, et al. Diabetes. 1999 Dec;48(12):2475-9. doi: 10.2337/diabetes.48.12.2475. Diabetes. 1999. PMID: 10580439

7

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.

Huxtable SJ, Saker PJ, Haddad L, Walker M, Frayling TM, Levy JC, Hitman GA, O'Rahilly S, Hattersley AT, McCarthy MI. Huxtable SJ, et al. Among authors: frayling tm. Diabetes. 2000 Jan;49(1):126-30. doi: 10.2337/diabetes.49.1.126. Diabetes. 2000. PMID: 10615960

8

No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians.

Frayling TM, McCarthy MI, Walker M, Levy JC, O'Rahilly S, Hitman GA, Rao PV, Bennett AJ, Jones EC, Menzel S, Ellard S, Hattersley AT. Frayling TM, et al. J Clin Endocrinol Metab. 2000 Feb;85(2):853-7. doi: 10.1210/jcem.85.2.6395. J Clin Endocrinol Metab. 2000. PMID: 10690901

9

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.

Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD. Bulman MP, et al. Among authors: frayling tm. Nat Genet. 2000 Apr;24(4):438-41. doi: 10.1038/74307. Nat Genet. 2000. PMID: 10742114

10

Intermediate expansions of a X25/frataxin gene GAA repeat and type II diabetes: assessment using parent-offspring trios.

Lynn S, Hattersley AT, McCarthy MI, Frayling TM, Turnbull DM, Walker M. Lynn S, et al. Among authors: frayling tm. Diabetologia. 2000 Mar;43(3):384-5. doi: 10.1007/s001250050058. Diabetologia. 2000. PMID: 10768101 No abstract available.

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