نتائج البحث - "Bryony Thompson"

1

دورية أكاديمية

P534: Piloting an Australian quality assurance program interpretive module for genomic testing

المؤلفون: Alicia Byrne, Dimitar Azmanov, Sze Chai, John Christodoulou, Matilda Haas, Karin Kassahn, Ben Lundie, Sebastian Lunke, Ami Stott, Bryony Thompson, Tony Badrick, Bruce Bennetts

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101433- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S294977442400579XTest; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/ad48ee23ee7d4d6bbc57b0f0c1b693b2Test

View record in DOAJ

النص الكامل

2

دورية أكاديمية

P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100095- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S294977442300095XTest; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/4293f81e35c44437b2760aac2b4577aeTest

View record in DOAJ

النص الكامل

3

Predictive functional assay-based classification of PMS2 variants in Lynch syndrome

المؤلفون: Emily Rayner, Yvonne Tiersma, Cristina Fortuno, Sandrine van Hees‐Stuivenberg, Mark Drost, Bryony Thompson, Amanda B. Spurdle, Niels de Wind

المساهمون: Clinical Genetics

المصدر: Human Mutation: Variation, Informatics and Disease, 43(9), 1249-1258. WILEY
Human Mutation, 43(9), 1249-1258. Wiley-Liss Inc.

مصطلحات موضوعية: variants of uncertain significance, DNA mismatch repair, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA-Binding Proteins, MutS Homolog 2 Protein, Lynch syndrome, PMS2, SDG 3 - Good Health and Well-being, Genetics, Humans, Genetic Testing, MutL Protein Homolog 1, diagnostic assessment, functional analysis-based classification, Genetics (clinical), Mismatch Repair Endonuclease PMS2

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2ec2056b4957075ebe626b0d9fa110dTest
http://www.scopus.com/inward/record.url?scp=85128910091&partnerID=8YFLogxKTest

4

TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members

المؤلفون: Rachel, Delahunty, Linh, Nguyen, Stuart, Craig, Belinda, Creighton, Dinuka, Ariyaratne, Dale W, Garsed, Elizabeth, Christie, Sian, Fereday, Lesley, Andrews, Alexandra, Lewis, Sharne, Limb, Ahwan, Pandey, Joy, Hendley, Nadia, Traficante, Natalia, Carvajal, Amanda B, Spurdle, Bryony, Thompson, Michael T, Parsons, Victoria, Beshay, Mila, Volcheck, Timothy, Semple, Richard, Lupat, Kenneth, Doig, Jiaan, Yu, Xiao Qing, Chen, Anna, Marsh, Christopher, Love, Sanela, Bilic, Maria, Beilin, Cassandra B, Nichols, Christina, Greer, Yeh Chen, Lee, Susan, Gerty, Lynette, Gill, Emma, Newton, Julie, Howard, Rachel, Williams, Christie, Norris, Andrew N, Stephens, Erin, Tutty, Courtney, Smyth, Shona, O'Connell, Thomas, Jobling, Colin J R, Stewart, Adeline, Tan, Stephen B, Fox, Nicholas, Pachter, Jason, Li, Jason, Ellul, Gisela, Mir Arnau, Mary-Anne, Young, Louisa, Gordon, Laura, Forrest, Marion, Harris, Karen, Livingstone, Jane, Hill, Georgia, Chenevix-Trench, Paul A, Cohen, Penelope M, Webb, Michael, Friedlander, Paul, James, David, Bowtell, Kathryn, Alsop

المصدر: Journal of Clinical Oncology. 40:2036-2047

مصطلحات موضوعية: Male, Ovarian Neoplasms, Cancer Research, Australia, Breast Neoplasms, Pilot Projects, Carcinoma, Ovarian Epithelial, Oncology, Humans, Family, Female, Genetic Predisposition to Disease, Genetic Testing, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d66ca017250ec5b60c0dd8770470563Test
https://doi.org/10.1200/jco.21.02108Test

5

Rivaroxaban in the treatment of TEK ‐related venous malformation

المؤلفون: Hnin P, Oo, Sant-Rayn, Pasricha, Bryony, Thompson, Ingrid, Winship, Laura, Scardamaglia

المصدر: Australasian Journal of Dermatology. 63

مصطلحات موضوعية: Adult, Rivaroxaban, Vascular Malformations, Quality of Life, Humans, Pain, Female, Dermatology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e3dadddef52d37a3ef5bc2b50d0d933Test
https://doi.org/10.1111/ajd.13856Test

6

Functional assay-based classification of PMS2 variants in Lynch Syndrome

المؤلفون: Emily Rayner, Yvonne Tiersma, Cristina Fortuno, Sandrine van Hees-Stuivenberg, Mark Drost, Bryony Thompson, Amanda Spurdle, Niels de Wind

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, digestive system diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::72a9f5958ef5ba812299a7b8744f09e6Test
https://doi.org/10.22541/au.163772741.15317643/v1Test

7

Clinical impact of whole-genome sequencing in patients with early-onset dementia

المصدر: Journal of neurology, neurosurgery, and psychiatry.

مصطلحات موضوعية: Psychiatry and Mental health, Neurology & Neurosurgery, 11 Medical and Health Sciences, 17 Psychology and Cognitive Sciences, Surgery, Neurology (clinical)

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9d083ad4e1b13b90b5135f6ea9a2a3fTest
https://pubmed.ncbi.nlm.nih.gov/35906014Test

8

دورية أكاديمية

Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

المؤلفون: Bryony Thompson, Amanda Spurdle

المصدر: Genes; Volume 6; Issue 2; Pages: 150-162

مصطلحات موضوعية: lynch syndrome, variants of uncertain significance, mismatch repair, variant classification, multifactorial likelihood model

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes6020150Test

الإتاحة: https://doi.org/10.3390/genes6020150Test

View record in BASE

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