Detalhe da pesquisa
1.
Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry.
Int J Gynecol Cancer
; 31(6): 846-851, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33858951
2.
Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas.
Int J Gynecol Cancer
; 30(1): 94-99, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31699802
3.
Uptake of testing for germline BRCA mutations in patients with non-mucinous epithelial ovarian cancers in Western Australia: a comparison of different genetic counseling methods.
Int J Gynecol Cancer
; 29(6): 1038-1042, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31101686
4.
A Retrospective Exploration of the Impact of the 'Angelina Jolie Effect' on the Single State-Wide Familial Cancer Program in Perth, Western Australia.
J Genet Couns
; 26(1): 52-62, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27265404
5.
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Adv Exp Med Biol
; 1031: 55-94, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29214566
6.
Impact of Clinical Genetics Attendance at a Gynecologic Oncology Tumor Board on Referrals for Genetic Counseling and BRCA Mutation Testing.
Int J Gynecol Cancer
; 26(5): 892-7, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27051053
7.
A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.
Am J Med Genet A
; 167(7): 1659-67, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25851998
8.
Population-based screening for Lynch syndrome in Western Australia.
Int J Cancer
; 135(5): 1085-91, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24474394
9.
Opinions and experiences of recontacting patients: a survey of Australasian genetic health professionals.
J Community Genet
; 13(2): 193-199, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35013911
10.
Challenges in the diagnosis and management of Lynch Syndrome in an Indigenous family living in a remote West Australian community.
Rural Remote Health
; 11(4): 1836, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22188021
11.
Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test.
Int J Cancer
; 124(5): 1097-102, 2009 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19072991
12.
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Front Genet
; 10: 611, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31417602
13.
Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome.
Patient Educ Couns
; 101(5): 938-944, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29273311
14.
Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer.
J Mol Diagn
; 9(4): 472-8, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17652638
15.
Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.
Clin Cancer Res
; 12(11 Pt 1): 3389-93, 2006 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16740762
16.
3-Dimensional Facial Analysis-Facing Precision Public Health.
Front Public Health
; 5: 31, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28443272
17.
Initiating an undiagnosed diseases program in the Western Australian public health system.
Orphanet J Rare Dis
; 12(1): 83, 2017 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28468665
18.
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.
Orphanet J Rare Dis
; 11(1): 77, 2016 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27287197
19.
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.
Am J Med Genet A
; 149A(6): 1331-3, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19449425
20.
A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours.
Fam Cancer
; 11(1): 1-6, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22120844