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Trilateral Retinoblastoma in a Patient With Peutz-Jeghers Syndrome

American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1096-1100

2013

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Spectrum of MECP2 mutations in New Zealand Rett syndrome patients

New Zealand medical journal, 2009-06, Vol.122 (1296), p.21-28

Raizis, Anthony M

2009

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Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene

Annals of clinical biochemistry, 2011-05, Vol.48 (Pt 3), p.286-290

2011

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A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp)

Annals of clinical biochemistry, 2018-09, Vol.55 (5), p.616-619

2018

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Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.2941-2950

2021

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Three families with Perry syndrome from distinct parts of the world

Parkinsonism & related disorders, 2014-08, Vol.20 (8), p.884-888

2014

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Three New Families With Perry Syndrome From Distinct Parts Of The World- Novel Mutation And Successful Treatment Attempt Of Respiratory Insufficiency (P3.086)

Neurology, 2014-04, Vol.82 (10_supplement)

2014

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A Novel 5′ (40^41insA) Mutation in a Patient with Numerous Manifestations of Cowden Disease

Journal of investigative dermatology, 2000-03, Vol.114 (3), p.597-598

2000

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Trilateral Retinoblastoma in a Patient With Peutz– J eghers Syndrome

American journal of medical genetics. Part A, 2013-05, Vol.161 (5), p.1096-1100

2013

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A Bisulfite Method of 5-Methylcytosine Mapping That Minimizes Template Degradation

Analytical biochemistry, 1995-03, Vol.226 (1), p.161-166

1995

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Role of genetic testing in retinoblastoma management at a tertiary referral centre

Clinical & experimental ophthalmology, 2010-04, Vol.38 (3), p.231-236

2010

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Effect of nonsense mutations on PTEN mRNA stability

Human genetics, 2000-07, Vol.107 (1), p.24-27

2000

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Type 1 diabetes: research hopes and their New Zealand implications

New Zealand medical journal, 2006-01, Vol.119 (1228), p.U1819-U1819

2006

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Improved clinical management of retinoblastoma through gene testing

New Zealand medical journal, 2002-05, Vol.115 (1154), p.231-234

Raizis, Anthony

2002

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Loss of Allelic Heterozygosity at a Second Locus on Chromosome 11 in Sporadic Wilms' Tumor Cells

Molecular and cellular biology, 1989-04, Vol.9 (4), p.1799-1803

1989

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Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies

Trilateral Retinoblastoma in a Patient With Peutz-Jeghers Syndrome

Spectrum of MECP2 mutations in New Zealand Rett syndrome patients

Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene

A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp)

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations

Three families with Perry syndrome from distinct parts of the world

Three New Families With Perry Syndrome From Distinct Parts Of The World- Novel Mutation And Successful Treatment Attempt Of Respiratory Insufficiency (P3.086)

A Novel 5′ (40^41insA) Mutation in a Patient with Numerous Manifestations of Cowden Disease

Trilateral Retinoblastoma in a Patient With Peutz– J eghers Syndrome

A Bisulfite Method of 5-Methylcytosine Mapping That Minimizes Template Degradation

Role of genetic testing in retinoblastoma management at a tertiary referral centre

Effect of nonsense mutations on PTEN mRNA stability

Type 1 diabetes: research hopes and their New Zealand implications

Improved clinical management of retinoblastoma through gene testing

Loss of Allelic Heterozygosity at a Second Locus on Chromosome 11 in Sporadic Wilms' Tumor Cells

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