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12 results
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Novel inactivating mutation of the calcium-sensing receptor in a young woman with mild hypercalcaemia.
Kim DD, Que L, Raizis AM, Florkowski CM. Kim DD, et al. Among authors: raizis am. Intern Med J. 2014 Apr;44(4):413-6. doi: 10.1111/imj.12383. Intern Med J. 2014. PMID: 24754691
Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome.
Raizis AM, Van Mater D, Aaltonen LA, Lohmann D, Cheale MS, Bickley VM, George PM, Zhou Y, Rosoff PM. Raizis AM, et al. Am J Med Genet A. 2013 May;161A(5):1096-100. doi: 10.1002/ajmg.a.35748. Epub 2013 Mar 5. Am J Med Genet A. 2013. PMID: 23463749
Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene.
Schouten BJ, Raizis AM, Soule SG, Cole DR, Frengley PA, George PM, Florkowski CM. Schouten BJ, et al. Among authors: raizis am. Ann Clin Biochem. 2011 May;48(Pt 3):286-90. doi: 10.1258/acb.2010.010139. Epub 2011 Mar 25. Ann Clin Biochem. 2011. PMID: 21441391
Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.
Raizis AM, Saleem M, MacKay R, George PM. Raizis AM, et al. N Z Med J. 2009 Jun 5;122(1296):21-8. N Z Med J. 2009. PMID: 19652677
Effect of nonsense mutations on PTEN mRNA stability.
Raizis AM, Ferguson MM, George PM. Raizis AM, et al. Hum Genet. 2000 Jul;107(1):24-7. doi: 10.1007/s004390000317. Hum Genet. 2000. PMID: 10982030
A novel 5' (4041insA) mutation in a patient with numerous manifestations of Cowden disease.
Raizis AM, Ferguson MM, Nicholls DT, Goodisson DW. Raizis AM, et al. J Invest Dermatol. 2000 Mar;114(3):597-8. doi: 10.1046/j.1523-1747.2000.02002.x. J Invest Dermatol. 2000. PMID: 10777358 Free article. No abstract available.
The characterization of ovine genes for atrial, brain, and C-type natriuretic peptides.
Aitken GD, Raizis AM, Yandle TG, George PM, Espiner EA, Cameron VA. Aitken GD, et al. Among authors: raizis am. Domest Anim Endocrinol. 1999 Feb;16(2):115-21. doi: 10.1016/s0739-7240(99)00005-3. Domest Anim Endocrinol. 1999. PMID: 10219521
Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome.
Raizis AM, Ferguson MM, Robinson BA, Atkinson CH, George PM. Raizis AM, et al. Mol Pathol. 1998 Dec;51(6):339-41. doi: 10.1136/mp.51.6.339. Mol Pathol. 1998. PMID: 10193515 Free PMC article.
A bisulfite method of 5-methylcytosine mapping that minimizes template degradation.
Raizis AM, Schmitt F, Jost JP. Raizis AM, et al. Anal Biochem. 1995 Mar 20;226(1):161-6. doi: 10.1006/abio.1995.1204. Anal Biochem. 1995. PMID: 7785768
Structural analysis of the human insulin-like growth factor-II P3 promoter.
Raizis AM, Eccles MR, Reeve AE. Raizis AM, et al. Biochem J. 1993 Jan 1;289 ( Pt 1)(Pt 1):133-9. doi: 10.1042/bj2890133. Biochem J. 1993. PMID: 8424751 Free PMC article.
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