Hattersley AT - Search Results

1

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R; International Pancreatic Agenesis Consortium; Ferrer J, Hattersley AT, Ellard S. Allen HL, et al. Among authors: hattersley at. Nat Genet. 2011 Dec 11;44(1):20-22. doi: 10.1038/ng.1035. Nat Genet. 2011. PMID: 22158542 Free PMC article.

2

A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young.

Bulman MP, Dronsfield MJ, Frayling T, Appleton M, Bain SC, Ellard S, Hattersley AT. Bulman MP, et al. Among authors: hattersley at. Diabetologia. 1997 Jul;40(7):859-62. doi: 10.1007/s001250050760. Diabetologia. 1997. PMID: 9243109

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. Among authors: hattersley at. Hum Genet. 1997 Dec;101(3):351-4. doi: 10.1007/s004390050640. Hum Genet. 1997. PMID: 9439666

4

Mutations in the glucokinase gene of the fetus result in reduced birth weight.

Hattersley AT, Beards F, Ballantyne E, Appleton M, Harvey R, Ellard S. Hattersley AT, et al. Nat Genet. 1998 Jul;19(3):268-70. doi: 10.1038/953. Nat Genet. 1998. PMID: 9662401

5

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: hattersley at. Am J Hum Genet. 1999 Jul;65(1):175-82. doi: 10.1086/302464. Am J Hum Genet. 1999. PMID: 10364530 Free PMC article.

6

Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing.

Miedzybrodzka Z, Hattersley AT, Ellard S, Pearson D, de Silva D, Harvey R, Haites N. Miedzybrodzka Z, et al. Among authors: hattersley at. Eur J Hum Genet. 1999 Sep;7(6):729-32. doi: 10.1038/sj.ejhg.5200358. Eur J Hum Genet. 1999. PMID: 10482964

7

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: hattersley at. Nat Genet. 2000 Apr;24(4):438-41. doi: 10.1038/74307. Nat Genet. 2000. PMID: 10742114

8

A severe clinical phenotype results from the co-inheritance of type 2 susceptibility genes and a hepatocyte nuclear factor-1alpha mutation.

Tack CJ, Ellard S, Hattersley AT. Tack CJ, et al. Among authors: hattersley at. Diabetes Care. 2000 Mar;23(3):424-5. doi: 10.2337/diacare.23.3.424. Diabetes Care. 2000. PMID: 10868881 No abstract available.

9

Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG-->CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1 alpha) gene which causes maturity-onset diabetes of the young (MODY).

Ellard S, Bulman MP, Frayling TM, Shepherd M, Hattersley AT. Ellard S, et al. Among authors: hattersley at. Hum Mutat. 2000 Sep;16(3):273. doi: 10.1002/1098-1004(200009)16:3<273::AID-HUMU18>3.0.CO;2-Z. Hum Mutat. 2000. PMID: 10980542

10

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.

Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT. Bingham C, et al. Among authors: hattersley at. Am J Hum Genet. 2001 Jan;68(1):219-24. doi: 10.1086/316945. Epub 2000 Nov 20. Am J Hum Genet. 2001. PMID: 11085914 Free PMC article.

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