Search Results - "Raizis, Anthony"

Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies by Rushlow, Diane E, BSc, Mol, Berber M, MSc, Kennett, Jennifer Y, MSc, Yee, Stephanie, MSc, Pajovic, Sanja, PhD, Thériault, Brigitte L, PhD, Prigoda-Lee, Nadia L, MSc, Spencer, Clarellen, BSc, Dimaras, Helen, PhD, Corson, Timothy W, PhD, Pang, Renée, MA, Massey, Christine, MSc, Godbout, Roseline, Prof, Jiang, Zhe, BSc, Zacksenhaus, Eldad, PhD, Paton, Katherine, MD, Moll, Annette C, MD, Houdayer, Claude, PhD, Raizis, Anthony, PhD, Halliday, William, MD, Lam, Wan L, Prof, Boutros, Paul C, PhD, Lohmann, Dietmar, Prof, Dorsman, Josephine C, PhD, Gallie, Brenda L, Prof

“…Summary Background Retinoblastoma is the childhood retinal cancer that defined tumour-suppressor genes. Previous work shows that mutation of both alleles of…”
Get full text

Trilateral Retinoblastoma in a Patient With Peutz-Jeghers Syndrome by Raizis, Anthony M., Van Mater, David, Aaltonen, Lauri A., Lohmann, Dietmar, Cheale, Michelle S., Bickley, Vivienne M., George, Peter M., Zhou, Yaolin, Rosoff, Philip M.

“…Germline loss of function mutations in tumor suppressor genes RB1 and LKB1/STK11 are associated with the autosomal dominant cancer predisposing syndromes…”
Get full text

Spectrum of MECP2 mutations in New Zealand Rett syndrome patients by Raizis, Anthony M

“…Investigates the spectrum and frequency of MECP2 mutations in NZ Rett syndrome patients and evaluates whether available clinical criteria were sufficient to…”
Get full text

Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene by Schouten, Belinda J, Raizis, Anthony M, Soule, Steven G, Cole, David R, Frengley, Patrick A, George, Peter M, Florkowski, Christopher M

“…We present four cases with clinical and biochemical hypocalcaemia and evidence supportive of hypoparathyroidism. One case had been previously ascribed a…”
Get more information

A Novel 5′ (40^41insA) Mutation in a Patient with Numerous Manifestations of Cowden Disease by Raizis, Anthony M., Ferguson, Martin M., Nicholls, David T., Goodisson, Derek W., George, Peter M.

Get full text

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations by Stutterd, Chloe A., Kidd, Alexa, Florkowski, Chris, Janus, Edward, Fanjul, Miriam, Raizis, Anthony, Wu, Teddy Y., Archer, John, Leventer, Richard J., Amor, David J., Lukic, Vesna, Bahlo, Melanie, Gow, Paul, Lockhart, Paul J., Knaap, Marjo S., Delatycki, Martin B.

“…Pathogenic heterozygous variants in HMBS encoding the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase, cause acute…”
Get full text

Three families with Perry syndrome from distinct parts of the world by Tacik, Pawel, Fiesel, Fabienne C, Fujioka, Shinsuke, Ross, Owen A, Pretelt, Felipe, Castañeda Cardona, Camilo, Kidd, Alexa, Hlavac, Michael, Raizis, Anthony, Okun, Michael S, Traynor, Sharleen, Strongosky, Audrey J, Springer, Wolfdieter, Wszolek, Zbigniew K

“…Abstract Objectives Perry syndrome consists of autosomal dominant Parkinsonism, depression, weight loss, and central hypoventilation. Eight mutations in 16…”
Get full text

Three New Families With Perry Syndrome From Distinct Parts Of The World- Novel Mutation And Successful Treatment Attempt Of Respiratory Insufficiency (P3.086) by Tacik, Pawel, Fujioka, Shinsuke, Ross, Owen, Springer, Wolfdieter, Fiesel, Fabienne, Pretelt, Felipe, Castañeda Cardona, Camilo, Kidd, Alexa, Hlavac, Michael, Raizis, Anthony, Okun, Michael, Wszolek, Zbigniew

“…Abstract only…”
Get full text

Trilateral Retinoblastoma in a Patient With Peutz– J eghers Syndrome by Raizis, Anthony M., Van Mater, David, Aaltonen, Lauri A., Lohmann, Dietmar, Cheale, Michelle S., Bickley, Vivienne M., George, Peter M., Zhou, Yaolin, Rosoff, Philip M.

“…Abstract Germline loss of function mutations in tumor suppressor genes RB1 and LKB1 / STK11 are associated with the autosomal dominant cancer predisposing…”
Get full text

Role of genetic testing in retinoblastoma management at a tertiary referral centre by Pradhan, Monika A, Ng, Yvonne, Strickland, Adrienne, George, Peter M, Raizis, Anthony, Warrington, Jenny, Vincent, Andrea L

“…Background:  Retinoblastoma (MIM +180 200) is a malignant neoplasm affecting embryonal retina, associated with mutations in the RB1 gene. This paper…”
Get full text

A Bisulfite Method of 5-Methylcytosine Mapping That Minimizes Template Degradation by Raizis, A.M., Schmitt, F., Jost, J.P.

“…The bisulfite method is a highly sensitive approach to 5-methylcytosine mapping that utilizes the capability of the polymerase chain reaction to exponentially…”
Get full text

Type 1 diabetes: research hopes and their New Zealand implications by Willis, Jinny, Raizis, Anthony, Darlow, Brian, Scott, Russell, Beaven, Donald

“…A research question that remains largely unexplored is whether or not the autoimmune memory effect observed in pancreatic transplants between twins,5 is due to…”
Get full text

Improved clinical management of retinoblastoma through gene testing by Raizis, Anthony

“…Investigates the relative benefits of retinoblastoma gene testing over conventional opthalmological screening methods in a NZ setting. Determines the…”
Get full text

Effect of nonsense mutations on PTEN mRNA stability by RAIZIS, A. M, FERGUSON, M. M, GEORGE, P. M

“…Cowden disease is an autosomal dominant disorder associated with an elevated risk of breast, thyroid and skin cancers, in which germline mutations of a tumour…”
Get full text

Loss of Allelic Heterozygosity at a Second Locus on Chromosome 11 in Sporadic Wilms' Tumor Cells by Reeve, Anthony E., Sih, Sharon A., Raizis, Anthony M., Feinberg, Andrew P.

“…Children with associated Wilms' tumor, aniridia, genitourinary malformations, and mental retardation (WAGR syndrome) frequently have a cytogenetically visible…”
Get full text