Pesquisa | Portal de Pesquisa da BVS

1.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Bournazos, Adam M; Riley, Lisa G; Bommireddipalli, Shobhana; Ades, Lesley; Akesson, Lauren S; Al-Shinnag, Mohammad; Alexander, Stephen I; Archibald, Alison D; Balasubramaniam, Shanti; Berman, Yemima; Beshay, Victoria; Boggs, Kirsten; Bojadzieva, Jasmina; Brown, Natasha J; Bryen, Samantha J; Buckley, Michael F; Chong, Belinda; Davis, Mark R; Dawes, Ruebena; Delatycki, Martin; Donaldson, Liz; Downie, Lilian; Edwards, Caitlin; Edwards, Matthew; Engel, Amanda; Ewans, Lisa J; Faiz, Fathimath; Fennell, Andrew; Field, Michael; Freckmann, Mary-Louise; Gallacher, Lyndon; Gear, Russell; Goel, Himanshu; Goh, Shuxiang; Goodwin, Linda; Hanna, Bernadette; Harraway, James; Higgins, Megan; Ho, Gladys; Hopper, Bruce K; Horton, Ari E; Hunter, Matthew F; Huq, Aamira J; Josephi-Taylor, Sarah; Joshi, Himanshu; Kirk, Edwin; Krzesinski, Emma; Kumar, Kishore R; Lemckert, Frances; Leventer, Richard J.

Genet Med ; 24(1): 130-145, 2022 01.

Artigo em Inglês | MEDLINE | ID: mdl-34906502

2.

Lessons learnt from MDM2 fluorescence in-situ hybridisation analysis of 439 mature lipomatous lesions with an emphasis on atypical lipomatous tumour/well-differentiated liposarcoma lacking cytological atypia.

Vargas, Ana Cristina; Joy, Christopher; Cheah, Alison L; Jones, Martin; Bonar, Fiona; Brookwell, Ross; Garrone, Bernadette; Talbot, Joel; Harraway, James; Gill, Anthony J; Maclean, Fiona M.

Histopathology ; 80(2): 369-380, 2022 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-34523152

3.

WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.

Anderson, Erin; Aldridge, Melanie; Turner, Ross; Harraway, James; McManus, Sam; Stewart, Anna; Borzi, Peter; Trnka, Peter; Burke, John; Coman, David.

Pediatr Nephrol ; 37(10): 2369-2374, 2022 10.

Artigo em Inglês | MEDLINE | ID: mdl-35211794

4.

Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study.

Hui, Lisa; Pynaker, Cecilia; Bonacquisto, Leonard; Lindquist, Anthea; Poulton, Alice; Kluckow, Eliza; Hutchinson, Briohny; Norris, Fiona; Pertile, Mark D; Gugasyan, Lucy; Kulkarni, Abhijit; Harraway, James; Howden, Amanda; McCoy, Richard; da Silva Costa, Fabricio; Menezes, Melody; Palma-Dias, Ricardo; Nisbet, Debbie; Martin, Nicole; Bethune, Michael; Poulakis, Zeffie; Halliday, Jane.

Am J Obstet Gynecol ; 225(5): 527.e1-527.e12, 2021 11.

Artigo em Inglês | MEDLINE | ID: mdl-33957116

5.

A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort.

Hui, Lisa; Poulton, Alice; Kluckow, Eliza; Lindquist, Anthea; Hutchinson, Briohny; Pertile, Mark D; Bonacquisto, Leonard; Gugasyan, Lucy; Kulkarni, Abhijit; Harraway, James; Howden, Amanda; McCoy, Richard; Costa, Fabricio Da Silva; Menezes, Melody; Palma-Dias, Ricardo; Nisbet, Debbie; Martin, Nicole; Bethune, Michael; Poulakis, Zeffie; Halliday, Jane.

Hum Reprod ; 35(3): 694-704, 2020 03 27.

Artigo em Inglês | MEDLINE | ID: mdl-32207823

6.

Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio-economic status in Victoria, Australia: A population-based cohort study from 2015 to 2016.

Kluckow, Eliza; Halliday, Jane; Poulton, Alice; Lindquist, Anthea; Hutchinson, Briohny; Bethune, Michael; Bonacquisto, Leonard; Da Silva Costa, Fabricio; Gugasyan, Lucy; Harraway, James; Howden, Amanda; Kulkarni, Abhijit; Martin, Nicole; McCoy, Richard; Menezes, Melody; Nisbet, Debbie; Palma-Dias, Ricardo; Pertile, Mark D; Poulakis, Zeffie; Hui, Lisa.

Prenat Diagn ; 39(13): 1254-1261, 2019 12.

Artigo em Inglês | MEDLINE | ID: mdl-31691307

7.

Non-invasive prenatal testing.

Harraway, James.

Aust Fam Physician ; 46(10): 735-739, 2017 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-29036772

8.

Ovarian Microcystic Stromal Tumor: A Rare Clinical Manifestation of Familial Adenomatous Polyposis.

Liu, Cheng; Gallagher, Renee L; Price, Gareth R; Bolton, Elizabeth; Joy, Christopher; Harraway, James; Venter, Deon J; Armes, Jane E.

Int J Gynecol Pathol ; 35(6): 561-565, 2016 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-27015438

9.

Non-invasive prenatal testing: clinical utility and ethical concerns about recent advances.

Thomas, Joseph; Harraway, James; Kirchhoffer, David.

Med J Aust ; 215(8): 384-384.e1, 2021 10 18.

Artigo em Inglês | MEDLINE | ID: mdl-34571577

10.

Non-invasive prenatal testing: clinical utility and ethical concerns about recent advances.

Thomas, Joseph; Harraway, James; Kirchhoffer, David.

Med J Aust ; 214(4): 168-170.e1, 2021 03.

Artigo em Inglês | MEDLINE | ID: mdl-33423294

11.

Complete penoscrotal transposition: case report and review of the literature.

Sexton, Philippa; Thomas, Joseph T; Petersen, Scott; Brown, Nicole; Arms, Jane E; Bryan, Jenny; Harraway, James; Gardener, Glenn.

Fetal Diagn Ther ; 37(1): 70-4, 2015.

Artigo em Inglês | MEDLINE | ID: mdl-25115217

12.

Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy.

Kamien, Benjamin; Harraway, James; Lundie, Ben; Smallhorne, Lex; Gibbs, Vicki; Heath, Anna; Fullerton, Janice M.

Am J Med Genet A ; 164A(3): 782-8, 2014 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-24357335

13.

Reduced sensitivity for EGFR T790M mutations using the Idylla EGFR Mutation Test.

Lee, Eric; Jones, Victoria; Topkas, Eleni; Harraway, James.

J Clin Pathol ; 74(1): 43-47, 2021 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-32467321

14.

Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy: additional information.

Kamien, Benjamin; Harraway, James; Lundie, Ben; Smallhorne, Lex; Gibbs, Vicki; Heath, Anna; Fullerton, Janice M.

Am J Med Genet A ; 167(6): 1424, 2015 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-25846131

15.

Prevalence of the EGFR T790M and other resistance mutations in the Australian population and histopathological correlation in a small subset of cases.

Kim, Roger H; Lapuk, Anna; Harraway, James; Lee, Eric; Walsh, Michael; Topkas, Eleni; Jones, Victoria; Burn, Julie; Baillie, Tina; Lim, Cathy; Nejad, Kambin; Muljono, Anita; Gagne, Eric; McConechy, Melissa K; Zein, Yesser; Maclean, Fiona; Gill, Anthony J; Vargas, Ana Cristina.

Pathology ; 52(4): 410-420, 2020 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-32359774

16.

IDH1 p.R132C mutation in prostatic carcinoma with psammomatous calcifications: report of two cases.

Galea, Laurence A; Flynn, Maria; Jones, Victoria; Harraway, James; Appu, Sree; Sangoi, Ankur R.

Pathology ; 56(3): 419-421, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-37716816

17.

DNA extraction from placental, fetal and neonatal tissue at autopsy: what organ to sample for DNA in the genomic era?

Matsika, Admire; Gallagher, Renee; Williams, Mark; Joy, Christopher; Lowe, Emma; Price, Gareth; Webb, Lachlan; Marquart, Louise; Pelecanos, Anita; Harraway, James; Venter, Deon J; Armes, Jane E.

Pathology ; 51(7): 705-710, 2019 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-31635948

18.

The potential utility of single nucleotide polymorphism microarray (SNP array) in low-grade dedifferentiated liposarcomas.

Vargas, A Cristina; Barton, Narelle; Jones, Victoria; Joy, Christopher; Harraway, James; Cheah, Alison; Maclean, Fiona.

Pathology ; 55(6): 879-883, 2023 10.

Artigo em Inglês | MEDLINE | ID: mdl-37507332

19.

Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death.

Armes, Jane E; Williams, Mark; Price, Gareth; Wallis, Tristan; Gallagher, Renee; Matsika, Admire; Joy, Christopher; Galea, Melanie; Gardener, Glenn; Leach, Rick; Swagemakers, Sigrid Ma; Tearle, Rick; Stubbs, Andrew; Harraway, James; van der Spek, Peter J; Venter, Deon J.

Pediatr Dev Pathol ; 21(1): 54-67, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-28641477

20.

Dedifferentiated melanoma with MDM2 gene amplification mimicking dedifferentiated liposarcoma.

Yousef, Samer; Joy, Christopher; Velaiutham, Shanta; Maclean, Fiona M; Harraway, James; Gill, Anthony J; Vargas, Ana Cristina.

Pathology ; 54(3): 371-374, 2022 04.

Artigo em Inglês | MEDLINE | ID: mdl-34420795

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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Lessons learnt from MDM2 fluorescence in-situ hybridisation analysis of 439 mature lipomatous lesions with an emphasis on atypical lipomatous tumour/well-differentiated liposarcoma lacking cytological atypia.

WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.

Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study.

A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort.

Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio-economic status in Victoria, Australia: A population-based cohort study from 2015 to 2016.

Non-invasive prenatal testing.

Ovarian Microcystic Stromal Tumor: A Rare Clinical Manifestation of Familial Adenomatous Polyposis.

Non-invasive prenatal testing: clinical utility and ethical concerns about recent advances.

Non-invasive prenatal testing: clinical utility and ethical concerns about recent advances.

Complete penoscrotal transposition: case report and review of the literature.

Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy.

Reduced sensitivity for EGFR T790M mutations using the Idylla EGFR Mutation Test.

Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy: additional information.

Prevalence of the EGFR T790M and other resistance mutations in the Australian population and histopathological correlation in a small subset of cases.

IDH1 p.R132C mutation in prostatic carcinoma with psammomatous calcifications: report of two cases.

DNA extraction from placental, fetal and neonatal tissue at autopsy: what organ to sample for DNA in the genomic era?

The potential utility of single nucleotide polymorphism microarray (SNP array) in low-grade dedifferentiated liposarcomas.

Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death.

Dedifferentiated melanoma with MDM2 gene amplification mimicking dedifferentiated liposarcoma.