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1.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
J Transl Med
; 21(1): 282, 2023 04 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-37101184
2.
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
J Med Genet
; 58(12): 853-858, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33168572
3.
Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals.
Hered Cancer Clin Pract
; 20(1): 18, 2022 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35509103
4.
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
Lancet Oncol
; 22(11): 1618-1631, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34678156
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33858951
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31699802
7.
Patients With Genetic Heart Disease and COVID-19: A Cardiac Society of Australia and New Zealand (CSANZ) Consensus Statement.
Heart Lung Circ
; 29(7): e85-e87, 2020 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-32418874
8.
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Hum Mol Genet
; 26(24): 4849-4860, 2017 12 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29036646
9.
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Genet Med
; 21(5): 1111-1120, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30293987
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31101686
11.
Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children.
J Transl Med
; 16(1): 42, 2018 02 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-29482591
12.
Peritumoral granulomatous reaction in endometrial carcinoma: association with DNA mismatch repair protein deficiency, particularly loss of PMS2 expression.
Histopathology
; 73(3): 428-437, 2018 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-29710374
13.
Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.
Adv Exp Med Biol
; 1031: 511-520, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-29214589
14.
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Adv Exp Med Biol
; 1031: 55-94, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-29214566
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27051053
16.
Population-based screening for Lynch syndrome in Western Australia.
Int J Cancer
; 135(5): 1085-91, 2014 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24474394
17.
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.
JCO Precis Oncol
; 8: e2300453, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38412388
18.
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.
Cancers (Basel)
; 15(20)2023 Oct 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37894291
19.
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Circ Genom Precis Med
; 16(1): e003672, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36580316
20.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
medRxiv
; 2023 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36909643