Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Chan-Eng Chong"'
Autor:
Joanna Lim, Rick A. C. M. Boonen, Milan Sharma, Ern Yu Tan, Craig Luccarini, Su-Ming Tan, Jingmei Li, Douglas F. Easton, Sabine Knaup, Benita Kiat Tee Tan, Soo Hwang Teo, Weang Kee Ho, Alison M. Dunning, Chan Eng Chong, Shivaani Mariapun, Kartini Rahmat, Sara Carvalho, Rob M. van Dam, Mee Hoong See, Eldarina Wijaya, Pei Sze Ng, Caroline Baynes, Swee Ho Lim, Antonis C. Antoniou, Sook-Yee Yoon, Haico van Attikum, Mikael Hartman, Cheng Har Yip, Nur Aishah Taib, Veronique Kiat-Mien Tan
Publikováno v:
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Journal of Medical Genetics
BackgroundRare protein-truncating variants (PTVs) in partner and localiser of BRCA2 (PALB2) confer increased risk to breast cancer, but relatively few studies have reported the prevalence in South-East Asian populations. Here, we describe the prevale
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::648d9944879181cb2e14eb769eb5b278
https://doi.org/10.1136/jmedgenet-2020-107471
https://doi.org/10.1136/jmedgenet-2020-107471
Autor:
Pei Sze, Ng, Rick Acm, Boonen, Eldarina, Wijaya, Chan Eng, Chong, Milan, Sharma, Sabine, Knaup, Shivaani, Mariapun, Weang Kee, Ho, Joanna, Lim, Sook-Yee, Yoon, Nur Aishah, Mohd Taib, Mee Hoong, See, Jingmei, Li, Swee Ho, Lim, Ern Yu, Tan, Benita Kiat-Tee, Tan, Su-Ming, Tan, Veronique Kiat-Mien, Tan, Rob Martinus, van Dam, Kartini, Rahmat, Cheng Har, Yip, Sara, Carvalho, Craig, Luccarini, Caroline, Baynes, Alison M, Dunning, Antonis, Antoniou, Haico, van Attikum, Douglas F, Easton, Mikael, Hartman, Soo Hwang, Teo
Publikováno v:
Journal of medical genetics. 59(5)
Rare protein-truncating variants (PTVs) in partner and localiser of BRCA2 (Mutation testing was performed on germline DNA (n=15 768) using targeted sequencing panels. The functional impact of missense variants was tested in mouse embryonic stem cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::572839743e475ed4a963c58eb7c3b99e
https://pubmed.ncbi.nlm.nih.gov/33811135
https://pubmed.ncbi.nlm.nih.gov/33811135
Autor:
David T Yeung, Peter J. Brautigan, Chan Eng Chong, Young Koung Lee, Milena Babic, Parvathy Venugopal, Hamish S. Scott, Jacqueline M. Matthews, Grant A Engler, Christopher N. Hahn, Manuela Klingler-Hoffmann, Philippa H. Stokes, Richard J D'Andrea, Steven W. Lane, Anna L. Brown
Publikováno v:
Leukemia
Heterozygous GATA2 mutations underlie an array of complex hematopoietic and lymphatic diseases. Analysis of the literature reporting three recurrent GATA2 germline (g) mutations (gT354M, gR396Q and gR398W) revealed different phenotype tendencies. Alt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22d969107041dfe40fb0813f042e0e8a
https://doi.org/10.1038/leu.2017.196
https://doi.org/10.1038/leu.2017.196
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:
Chan-Eng Chong, Quenten Schwarz, Hamish S. Scott, Christopher P. Barnett, Young Kyung Lee, Jinghua Feng, Damien L. Bruno, Christopher N. Hahn, Andrew J McPhee, Jill Lipsett, Nathalie Nataren, Manuela Klingler-Hoffmann, Andreas W. Schreiber
Publikováno v:
Human Mutation. 37:955-963
Ectrodactyly/split hand-foot malformation is genetically heterogeneous with more than 100 syndromic associations. Acinar dysplasia is a rare congenital lung lesion of unknown etiology, which is frequently lethal postnatally. To date, there have been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::691359c343f796bb0908721083996c75
https://doi.org/10.1002/humu.23032
https://doi.org/10.1002/humu.23032
Autor:
Syahril Abdullah, Norshariza Nordin, Pike See Cheah, Chan-Eng Chong, Sze-Zheng Fam, King Hwa Ling, Shahidee Zainal Abidin
Publikováno v:
Gene. 697
MicroRNA-3099 is highly expressed during neuronal differentiation and development of the central nervous system. Here we characterised the role of miR-3099 during neural differentiation and embryonic brain development using a stable and regulatable m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b094169da4df9d5b2b905a2c1d3a24e
https://pubmed.ncbi.nlm.nih.gov/30769142
https://pubmed.ncbi.nlm.nih.gov/30769142
Autor:
Natasha L. Harvey, Jan Kazenwadel, Chan-Eng Chong, Genevieve A. Secker, Jacqueline M. Matthews, David M. Lawrence, Kelly L. Betterman, Sébastien Tabruyn, Cansaran Saygili Demir, Philippa H. Stokes, Yan Agalarov, Naoyuki Miura, Young Koung Lee, Tatiana V. Petrova, Drew L. Sutton, Marjo Salminen, Hamish S. Scott, Christopher N. Hahn
Publikováno v:
The Journal of clinical investigation
Journal of Clinical Investigation, vol. 125, no. 8, pp. 2979-2994
Journal of Clinical Investigation, vol. 125, no. 8, pp. 2979-2994
Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been shown to underlie a range of clinical phenotypes, including Emberger syndrome, a disorder characterized by lymphedema and predisposition to myelodysplast
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43aca03c3f9848871d2d9da91a70335f
https://www.jci.org/articles/view/78888
https://www.jci.org/articles/view/78888
Autor:
Boon-San Lim1, Chan-Eng Chong1, Zamrod, Zulkeflie1, Nathan, Sheila1,2 sheila@pkrisc.cc.ukm.my, Mohamed, Rahmah1,2
Publikováno v:
In Silico Biology. 2007, Vol. 7 Issue 4/5, p389-397. 9p. 2 Diagrams, 1 Chart.
Autor:
Chan-Eng Chong1,2, Boon-San Lim1,2, Nathan, Sheila1,2 sheila@pkrisc.cc.ukm.my, Mohamed, Rahmah1,2
Publikováno v:
In Silico Biology. 2006, Vol. 6 Issue 4, p341-346. 6p.
Autor:
Christopher P, Barnett, Nathalie J, Nataren, Manuela, Klingler-Hoffmann, Quenten, Schwarz, Chan-Eng, Chong, Young K, Lee, Damien L, Bruno, Jill, Lipsett, Andrew J, McPhee, Andreas W, Schreiber, Jinghua, Feng, Christopher N, Hahn, Hamish S, Scott
Publikováno v:
Human mutation. 37(9)
Ectrodactyly/split hand-foot malformation is genetically heterogeneous with more than 100 syndromic associations. Acinar dysplasia is a rare congenital lung lesion of unknown etiology, which is frequently lethal postnatally. To date, there have been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a4f4ec09ce7f7b2e74c7d9717c96362e
https://pubmed.ncbi.nlm.nih.gov/27323706
https://pubmed.ncbi.nlm.nih.gov/27323706