Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations

por Sjursen, Wenche, McPhillips, Mary, Scott, Rodney J., Talseth‐Palmer, Bente A.
Publicado 2016

Deletion Mutations in an Australian Series of HNPCC Patients

por McPhillips, Mary, Meldrum, Cliff J, Creegan, Rhona, Edkins, Edward, Scott, Rodney J
Publicado 2005

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer

por Talseth-Palmer, Bente A, McPhillips, Mary, Groombridge, Claire, Spigelman, Allan, Scott, Rodney J
Publicado 2010

Frequency of the Common MYH Mutations (G382D and Y165C) in MMR Mutation Positive and Negative HNPCC Patients

por Ashton, Katie A, Meldrum, Cliff J, McPhillips, Mary L, Kairupan, Carla F, Scott, Rodney J
Publicado 2005

The curious case of a woman with two BRCA1 mutations in trans

por Scott, Rodney J, Wong-Brown, Michelle, McPhillips, Mary, Dooley, Susan, Spigelman, Allan, Gleeson, Margaret, Meldrum, Cliff
Publicado 2015

The Association of the COMT V158M Polymorphism with Endometrial/Ovarian Cancer in HNPCC Families Adhering to the Amsterdam Criteria

por Ashton, Katie A, Meldrum, Cliff J, McPhillips, Mary L, Suchy, Janina, Kurzawski, Grzegorz, Lubinski, Jan, Scott, Rodney J
Publicado 2006

When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans

por Wong-Brown, Michelle, McPhillips, Mary, Gleeson, Margaret, Spigelman, Allan D., Meldrum, Cliff J., Dooley, Susan, Scott, Rodney J.
Publicado 2016

Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer

por Singh, Ashish Kumar, Talseth-Palmer, Bente, McPhillips, Mary, Lavik, Liss Anne Solberg, Xavier, Alexandre, Drabløs, Finn, Sjursen, Wenche
Publicado 2020

Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans

por Wong-Brown, Michelle, McPhillips, Mary, Gleeson, Margaret, Spigelman, Allan D., Meldrum, Cliff J., Dooley, Susan, Scott, Rodney J.
Publicado 2022

A Comparison Between Denaturing Gradient Gel Electrophoresis and Denaturing High Performance Liquid Chromatography in Detecting Mutations in Genes Associated with Hereditary Non-Po...

por Meldrum, Cliff J, McPhillips, Mary, Crooks, Renee, Thomas, Lesley, Edkins, Ted, Creegan, Rohanna, Miller, Ewan, Agrez, Michael, Scott, Rodney J
Publicado 2003

Targeted next‐generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families

por Talseth‐Palmer, Bente A., Bauer, Denis C., Sjursen, Wenche, Evans, Tiffany J., McPhillips, Mary, Proietto, Anthony, Otton, Geoffrey, Spigelman, Allan D., Scott, Rodney J.
Publicado 2016

Chromosome 8q23.3, 10p14 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome – a combined analysis of the Australian, Dutch and Polish Lynch syndrome cohorts

por Talseth-Palmer, Bente A, Wijnen, Juul T, Brenne, Ingvild S, Jagmohan-Changur, Shantie, Ashton, Katie A, Tops, Carli M, Evans, Tiffany-Jane, McPhillips, Mary, Groombridge, Claire, Suchy, Janina, Kurzawski, Grzegorz, Spigelman, Allan, Møller, Pål, Morreau, Hans M, Van Wezel, Tom, Lubinski, Jan, Vasen, Hans FA, Scott, Rodney J
Publicado 2012