Owens M - Search Results

1

Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.

Edghill EL, Oram RA, Owens M, Stals KL, Harries LW, Hattersley AT, Ellard S, Bingham C. Edghill EL, et al. Among authors: owens m. Nephrol Dial Transplant. 2008 Feb;23(2):627-35. doi: 10.1093/ndt/gfm603. Epub 2007 Oct 30. Nephrol Dial Transplant. 2008. PMID: 17971380

2

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.

Ellard S, Thomas K, Edghill EL, Owens M, Ambye L, Cropper J, Little J, Strachan M, Stride A, Ersoy B, Eiberg H, Pedersen O, Shepherd MH, Hansen T, Harries LW, Hattersley AT. Ellard S, et al. Among authors: owens m. Diabetologia. 2007 Nov;50(11):2313-7. doi: 10.1007/s00125-007-0798-6. Epub 2007 Sep 8. Diabetologia. 2007. PMID: 17828387

3

Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1.

Owens M, Ellard S, Vaidya B. Owens M, et al. Clin Endocrinol (Oxf). 2008 Mar;68(3):350-4. doi: 10.1111/j.1365-2265.2007.03045.x. Epub 2007 Sep 14. Clin Endocrinol (Oxf). 2008. PMID: 17854391

4

Germline mutations in the CDKN1B gene encoding p27 Kip1 are a rare cause of multiple endocrine neoplasia type 1.

Owens M, Stals K, Ellard S, Vaidya B. Owens M, et al. Clin Endocrinol (Oxf). 2009 Mar;70(3):499-500. doi: 10.1111/j.1365-2265.2008.03363.x. Epub 2008 Jul 31. Clin Endocrinol (Oxf). 2009. PMID: 18673462 No abstract available.

5

Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene.

Brooks AM, Owens M, Sayer JA, Salzmann M, Ellard S, Vaidya B. Brooks AM, et al. Among authors: owens m. QJM. 2012 Aug;105(8):791-4. doi: 10.1093/qjmed/hcr119. Epub 2011 Jul 14. QJM. 2012. PMID: 21764813 No abstract available.

6

A comparison of methods for EGFR mutation testing in non-small cell lung cancer.

Young EC, Owens MM, Adebiyi I, Bedenham T, Butler R, Callaway J, Cranston T, Crosby C, Cree IA, Dutton L, Faulkes C, Faulkner C, Howard E, Knight J, Huang Y, Lavender L, Lazarou LP, Liu H, Mair D, Milano A, Sandell S, Skinner A, Wallace A, Williams M, Spivey V, Goodall J, Frampton J, Ellard S; Clinical Molecular Genetics Society (CMGS) Scientific Subcommittee. Young EC, et al. Among authors: owens mm. Diagn Mol Pathol. 2013 Dec;22(4):190-5. doi: 10.1097/PDM.0b013e318294936c. Diagn Mol Pathol. 2013. PMID: 24193010

7

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

Dénes J, Swords F, Rattenberry E, Stals K, Owens M, Cranston T, Xekouki P, Moran L, Kumar A, Wassif C, Fersht N, Baldeweg SE, Morris D, Lightman S, Agha A, Rees A, Grieve J, Powell M, Boguszewski CL, Dutta P, Thakker RV, Srirangalingam U, Thompson CJ, Druce M, Higham C, Davis J, Eeles R, Stevenson M, O'Sullivan B, Taniere P, Skordilis K, Gabrovska P, Barlier A, Webb SM, Aulinas A, Drake WM, Bevan JS, Preda C, Dalantaeva N, Ribeiro-Oliveira A Jr, Garcia IT, Yordanova G, Iotova V, Evanson J, Grossman AB, Trouillas J, Ellard S, Stratakis CA, Maher ER, Roncaroli F, Korbonits M. Dénes J, et al. Among authors: owens m. J Clin Endocrinol Metab. 2015 Mar;100(3):E531-41. doi: 10.1210/jc.2014-3399. Epub 2014 Dec 12. J Clin Endocrinol Metab. 2015. PMID: 25494863 Free PMC article.

8

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

Owens M, Kivuva E, Quinn A, Brennan P, Caswell R, Lango Allen H, Vaidya B, Ellard S. Owens M, et al. Clin Endocrinol (Oxf). 2016 May;84(5):715-9. doi: 10.1111/cen.13008. Epub 2016 Feb 4. Clin Endocrinol (Oxf). 2016. PMID: 26708403

9

Pitfalls of haplotype phasing from amplicon-based long-read sequencing.

Laver TW, Caswell RC, Moore KA, Poschmann J, Johnson MB, Owens MM, Ellard S, Paszkiewicz KH, Weedon MN. Laver TW, et al. Among authors: owens mm. Sci Rep. 2016 Feb 17;6:21746. doi: 10.1038/srep21746. Sci Rep. 2016. PMID: 26883533 Free PMC article.

10

Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1.

Caswell RC, Owens MM, Gunning AC, Ellard S, Wright CF. Caswell RC, et al. Among authors: owens mm. J Endocr Soc. 2019 Sep 27;3(12):2258-2275. doi: 10.1210/js.2019-00260. eCollection 2019 Dec 1. J Endocr Soc. 2019. PMID: 31737856 Free PMC article.

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