Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Cassandra Vakulin"'
Autor:
Renee Santoreneos, Cassandra Vakulin, Melissa Ellul, Lesley Rawlings, Tristan Hardy, Nicola Poplawski
Publikováno v:
American Journal of Medical Genetics Part A. 188:1583-1588
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b349ebfefae774fe1971292aaacbabb1
https://doi.org/10.1002/ajmg.a.62674
https://doi.org/10.1002/ajmg.a.62674
Autor:
Hamish S. Scott, Yun Li, Denae Henry, Bernd Wollnik, Mehgan Horsnell, Eric Smith, Silke Kaulfuß, Christian Müller, Cassandra Vakulin, Joanne P. Young, Reger R. Mikaeel, Wendy Uylaki, Lesley Rawlings, Yoko Tomita, Amanda R. Townsend, Arne Zibat, Gökhan Yigit, Jinghua Feng, Nicola K. Poplawski, Andrew Dubowsky, Timothy J. Price
Publikováno v:
Clinical geneticsREFERENCES. 101(1)
The role of RNF43 as a cause of an inherited predisposition to colorectal cancer (CRC) is yet to be fully explored. This report presents our findings of two individuals with CRC from a single family carrying a likely-pathogenic inherited germline var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05da1fd9361726861161688eb76d955f
https://pubmed.ncbi.nlm.nih.gov/34541672
https://pubmed.ncbi.nlm.nih.gov/34541672
Autor:
Lesley Rawlings, Gökhan Yigit, Jinghua Feng, Christian Müller, Nicola Poplawski, Arne Zibat, Timothy J. Price, Wendy Uylaki, Eric E. Smith, Bernd Wollnik, Yoko Tomita, Amanda R. Townsend, Andrew Dubowsky, Silke Kaulfuß, Hamish S. Scott, Reger R. Mikaeel, Yun Li, Cassandra Vakulin, Joanne P. Young, Mehgan Horsnell, Henry Denae
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::75143e900b4f2a95b25235a930f036f7
https://doi.org/10.1111/cge.14064/v2/response1
https://doi.org/10.1111/cge.14064/v2/response1
Autor:
Andrew Dubowsky, Jinghua Feng, Amanda Wells, Stefan Fröhling, Meryl Altree, Andreas W. Schreiber, Sue Morgan, Lesley Rawlings, Richard J D'Andrea, Anna L. Brown, Chan-Eng Chong, Joëlle Michaud, Andrew H. Wei, Georges Natsoulis, Jeffrey Suttle, Rachel Susman, Cassandra Vakulin, Tilmann Bochtler, Uday R. Popat, Mark S. Currie, Paul Wang, Milena Babic, Ella J Wilkins, Christopher N. Hahn, Miriam Fine, Xiaochun Li, Jessica Burdett, Belinda Mercorella, Catherine Carmichael, Nigel Patton, Denae Henry, Marshall S. Horwitz, Peer Arts, Kerry Phillips, Julian Cooney, Sarah Moore, Sally Mapp, Nicola K. Poplawski, Thuong Ha, Sarah L King-Smith, Louise Jaensch, Shai Izraeli, Devendra K Hiwase, Julia Dobbins, Lucy A. Godley, Cecily Forsyth, Kenneth F. Bradstock, Carolyn M. Butcher, Helen Mar Fan, Grace McKavanagh, Hugh Y. Rienhoff, Hamish S. Scott, Mario Nicola, Elli Papaemmanuil, Ping Cannon, Ian D. Lewis, Claire C. Homan, Peter J. Brautigan, Alwin Krämer
Publikováno v:
Blood advances. 4(6)
First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a well-established cause of familial platelet disorder with predisposition to myeloid malignancy (FPD-MM). We present the clinical phenotypes and genetic mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30cc21538186700c18e024f443315b4b
https://pubmed.ncbi.nlm.nih.gov/32208489
https://pubmed.ncbi.nlm.nih.gov/32208489
Autor:
Jane E. Churpek, Cassandra Vakulin, Miriam Fine, Sue Morgan, Jinghua Feng, Lucy A. Godley, Ping Cannon, Chan-Eng Chong, Carolyn M. Butcher, Xiaochun Li, Ian D. Lewis, Marshall S. Horwitz, Hamish S. Scott, Julian Cooney, Uday R. Popat, Alwin Krämer, Milena Babic, Andreas W. Schreiber, Kenneth F. Bradstock, Nicola K. Poplawski, Lesley Rawlings, Mark S. Currie, Meryl Altree, Helen Mar Fan, Louise Jaensch, Richard J D'Andrea, Anna L. Brown, Catherine Carmichael, Nigel Patton, Cecily Forsyth, Sally Mapp, Christopher N. Hahn, Carolyn Owen, April D. Sorrell, Joëlle Michaud, Devendra K Hiwase, Stefan Fröhling, Ella J Wilkins, Kerry Phillips, Rachel Susman
Publikováno v:
Blood. 128:1212-1212
Background: This year, germline predisposition to haematological malignancy (HM) debuts in the World Health Organization classification of myeloid neoplasms and acute leukemia (Blood, 2016;127:2391). It has been 17 years since germline mutations in R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::465b19ecd377dce556a31a36fcd2f70d
https://doi.org/10.1182/blood.v128.22.1212.1212
https://doi.org/10.1182/blood.v128.22.1212.1212
Autor:
Lesley Rawlings, X Li, Cassandra Vakulin, C Hahn, J Rossini, Hamish S. Scott, S Townshend, B Mercorella
Publikováno v:
Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A64 (2012)
Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A64 (2012)
Background Familial platelet disorder with a predisposition to acute myelogenous leukaemia (FPD-AML, omim#601399) is an autosomal dominant disorder that is linked to mutations within the RUNX1 gene. The RUNX1 gene, present on 21q22.1, plays a role as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2356f240590f7f6cc8dd031507326fcc
https://doi.org/10.1186/1897-4287-10-s2-a64
https://doi.org/10.1186/1897-4287-10-s2-a64
Autor:
A Tirimacco, J Seymour, DE Benn, Anthony J. Gill, Lesley Rawlings, Nicola K. Poplawski, Cassandra Vakulin
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 2, p A60 (2012)
Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice
Results between January 1999 and May 2011, 24 probands were referred to and assessed by our service. The clinical presentation and mutation pick up are presented in the table. Tumour tissue was available from 20 probands and SDHB-IHC was abnormal in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef8bca1bcdeff1f285a070b3f55b165e
http://www.hccpjournal.com/content/10/S2/A60
http://www.hccpjournal.com/content/10/S2/A60