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Items: 12

1.

Novel inactivating mutation of the calcium-sensing receptor in a young woman with mild hypercalcaemia.

Kim DD, Que L, Raizis AM, Florkowski CM.

Intern Med J. 2014 Apr;44(4):413-6. doi: 10.1111/imj.12383.

PMID:
24754691
2.

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.

Am J Med Genet A. 2013 May;161A(5):1096-100. doi: 10.1002/ajmg.a.35748. Epub 2013 Mar 5.

PMID:
23463749
3.

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.

Ann Clin Biochem. 2011 May;48(Pt 3):286-90. doi: 10.1258/acb.2010.010139. Epub 2011 Mar 25.

PMID:
21441391
4.

Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.

Raizis AM, Saleem M, MacKay R, George PM.

N Z Med J. 2009 Jun 5;122(1296):21-8.

PMID:
19652677
5.

Effect of nonsense mutations on PTEN mRNA stability.

Raizis AM, Ferguson MM, George PM.

Hum Genet. 2000 Jul;107(1):24-7.

PMID:
10982030
6.

A novel 5' (4041insA) mutation in a patient with numerous manifestations of Cowden disease.

Raizis AM, Ferguson MM, Nicholls DT, Goodisson DW.

J Invest Dermatol. 2000 Mar;114(3):597-8. No abstract available.

7.

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.

Domest Anim Endocrinol. 1999 Feb;16(2):115-21.

PMID:
10219521
8.

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.

Mol Pathol. 1998 Dec;51(6):339-41.

9.

A bisulfite method of 5-methylcytosine mapping that minimizes template degradation.

Raizis AM, Schmitt F, Jost JP.

Anal Biochem. 1995 Mar 20;226(1):161-6.

PMID:
7785768
10.

Structural analysis of the human insulin-like growth factor-II P3 promoter.

Raizis AM, Eccles MR, Reeve AE.

Biochem J. 1993 Jan 1;289 ( Pt 1):133-9.

11.

Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells.

Reeve AE, Sih SA, Raizis AM, Feinberg AP.

Mol Cell Biol. 1989 Apr;9(4):1799-803.

12.

A mitotic recombination in Wilms tumor occurs between the parathyroid hormone locus and 11p13.

Raizis AM, Becroft DM, Shaw RL, Reeve AE.

Hum Genet. 1985;70(4):344-6.

PMID:
2991119

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