Detalhe da pesquisa
1.
Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB's role in oncogenesis.
Hum Mol Genet
; 30(24): 2393-2401, 2021 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34274969
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33168572
3.
The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children.
J Paediatr Child Health
; 55(11): 1315-1322, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30756435
4.
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Genet Med
; 20(9): 1061-1068, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215649
5.
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
Hum Mutat
; 37(7): 695-702, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27038415
6.
Cancer risks for MLH1 and MSH2 mutation carriers.
Hum Mutat
; 34(3): 490-7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23255516
7.
Lynch syndrome-associated breast cancers do not overexpress chromosome 11-encoded mucins.
Mod Pathol
; 26(7): 944-54, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23370770
8.
Cancer risks for relatives of patients with serrated polyposis.
Am J Gastroenterol
; 107(5): 770-8, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22525305
9.
Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study.
Int J Colorectal Dis
; 25(6): 703-12, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20213458
10.
Outcomes of multimodality breast screening for women at increased risk of familial breast cancer.
World J Surg
; 34(5): 979-86, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20108093
11.
Molecular, pathologic, and clinical features of early-onset endometrial cancer: identifying presumptive Lynch syndrome patients.
Clin Cancer Res
; 14(6): 1692-700, 2008 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18310315
12.
Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation.
Kidney Med
; 1(5): 315-318, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32734212
13.
Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.
Breast Cancer Res
; 8(1): R12, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16507150
14.
Multiplicity and molecular heterogeneity of colorectal carcinomas in individuals with serrated polyposis.
Am J Surg Pathol
; 37(3): 434-42, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23211288
15.
Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome).
Fam Cancer
; 10(2): 245-54, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21165777
16.
Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics.
PLoS One
; 5(7): e11636, 2010 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20661287
17.
Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.
Clin Cancer Res
; 16(7): 2214-24, 2010 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20215533
18.
Dilemmas encountered with preimplantation diagnosis of aneuploidy in human embryos.
Aust N Z J Obstet Gynaecol
; 44(2): 117-23, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15089834
19.
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.
Am J Med Genet A
; 119A(3): 257-65, 2003 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12784289
20.
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Proc Natl Acad Sci U S A
; 101(21): 8090-5, 2004 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-15141091