Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Peter E.M. Taschner"'
Autor:
Hannah M. Mitchison, David J. Bernard, Nicholas D.E. Greene, Jonathan D. Cooper, Mohammed A. Junaid, Raju K. Pullarkat, Nanneke de Vos, Martijn H. Breuning, Jennie W. Owens, William C. Mobley, R.Mark Gardiner, Brian D. Lake, Peter E.M. Taschner, Robert L. Nussbaum
Publikováno v:
Neurobiology of Disease, Vol 6, Iss 5, Pp 321-334 (1999)
Batten disease, a degenerative neurological disorder with juvenile onset, is the most common form of the neuronal ceroid lipofuscinoses. Mutations in the CLN3 gene cause Batten disease. To facilitate studies of Batten disease pathogenesis and treatme
Externí odkaz:
https://doaj.org/article/8f16813b23e04b1faf17c5f92f82f082
Autor:
Hannah M. Mitchison, David J. Bernard, Nicholas D.E. Greene, Jonathan D. Cooper, Mohammed A. Junaid, Raju K. Pullarkat, Nanneke de Vos, Martijn H. Breuning, Jennie W. Owens, William C. Mobley, R.Mark Gardiner, Brian D. Lake, Peter E.M. Taschner, Robert L. Nussbaum
Publikováno v:
Neurobiology of Disease, Vol 7, Iss 2, Pp 127- (2000)
Externí odkaz:
https://doaj.org/article/3e808c3d85044289af96b93c4a8f61b7
Autor:
Thierry Soussi, Pierre Hainaut, Peter E.M. Taschner, Joseph F. Fraumeni, Thorsten Zenz, Robert Zeillinger, Patricia N. Tonin, Louise C. Strong, Sharon A. Savage, Davide Rossi, Patricia Ashton-Prolla, Sarka Pospisilova, Kim E. Nichols, Jeffrey N. Myers, Ute M. Moll, David Malkin, Phuong L. Mai, Jacqueline Lehmann-Che, Richard Iggo, Eva Hellstrom-Lindberg, Anita Langerød, Gianluca Gaidano, Pierre Fenaux, Wafik S. El-Deiry, Lawrence A. Donehower, Nicole Concin, Antony Braithwaite, Gareth L. Bond, Fanny Baran-Marszak, Mandy L. Ballinger, Bernard Leroy
Accurate assessment of TP53 gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li–Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic data from m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::287bd11319667648ab1c91bba0bb64f3
https://doi.org/10.1158/0008-5472.c.6509369
https://doi.org/10.1158/0008-5472.c.6509369
Autor:
Johan T. den Dunnen, Martijn Vermaat, Jonathan K. Vis, Mihai Lefter, Jeroen F.J. Laros, Peter E.M. Taschner
Publikováno v:
Bioinformatics, 37(18), 2811-2817. OXFORD UNIV PRESS
Motivation Unambiguous variant descriptions are of utmost importance in clinical genetic diagnostics, scientific literature and genetic databases. The Human Genome Variation Society (HGVS) publishes a comprehensive set of guidelines on how variants s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58f6fcdd50dacc1dfbf1f893173d16ed
https://doi.org/10.1101/2020.06.24.168583
https://doi.org/10.1101/2020.06.24.168583
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2017, 38 (4), pp.339-342. ⟨10.1002/humu.23163⟩
Human Mutation, 38(4), 339-342
Human Mutation, Wiley, 2017, 38 (4), pp.339-342. ⟨10.1002/humu.23163⟩
Human Mutation, 38(4), 339-342
International audience; Single-nucleotide variants (SNVs) are the most frequent genetic changes found in human cancer. Most driver alterations are missense and nonsense variants localized in the coding region of cancer genes. Unbiased cancer genome s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::008c20b910a9eb1fe08278c79e58780d
https://doi.org/10.1002/humu.23163
https://doi.org/10.1002/humu.23163
Publikováno v:
Human Mutation. 37:1110-1113
The 2016 scientific meeting of the Human Genome Variation Society (HGVS; http://www.hgvs.org) was held on the 20th of May in Barcelona, Spain, with the theme of "Clinical Interpretation of Variants from Next-Generation Sequencing."
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d051003d7bbb8b391f825272bec8acb
https://doi.org/10.1002/humu.23059
https://doi.org/10.1002/humu.23059
Autor:
Marc S. Greenblatt, Steven E. Brenner, Reece K. Hart, William S. Oetting, Shamil R. Sunyaev, Anthony J. Brookes, Rachel Karchin, Peter E.M. Taschner
Publikováno v:
Human Mutation. 37:406-411
There is now a convergence of two modes of genetic testing, that of testing a few candidate genes at a time based on suspicion of a specific genetic disease, and that of genomic testing, especially when a candidate gene(s) is not suspected or known.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a9a655bacf3af00089d92287b35c70f
https://doi.org/10.1002/humu.22958
https://doi.org/10.1002/humu.22958
Autor:
Christopher J. Mungall, Nara Sobreira, Melissa A. Haendel, Ganesh J. Swaminathan, Michael Brudno, Peter N. Robinson, Anthony J. Brookes, Kym M. Boycott, Sharon F. Terry, Ada Hamosh, Benedict Paten, Knox Carey, Andriy Misyura, Heidi L. Rehm, Danielle R. Azzariti, Peter E.M. Taschner, Matthew E. Hurles, Johan T. den Dunnen, Catherine A. Brownstein, Richard A. Gibbs, Nicole L. Washington, Michael A. Gonzalez, Cassie Doll, Justin Paschall, Helen V. Firth, Orion J. Buske, Sergiu Dumitriu, Marta Girdea, Ben Hutton, Han G. Brunner, Stephan Züchner, Joel B. Krier, Lijia Huang, Stephanie O.M. Dyke, Anthony A. Philippakis, Sergi Beltran, François Schiettecatte, Ingrid A. Holm
Publikováno v:
Philippakis, AA; Azzariti, DR; Beltran, S; Brookes, AJ; Brownstein, CA; Brudno, M; et al.(2015). The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation, 36(10), 915-921. doi: 10.1002/humu.22858. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/2mv1v458
Human mutation, vol 36, iss 10
Human Mutation, 36(10), 915-921
Human Mutation, 36(10), 915-921. Wiley
Human Mutation, 36, 915-21
Human Mutation, 36, 10, pp. 915-21
Human mutation, vol 36, iss 10
Human Mutation, 36(10), 915-921
Human Mutation, 36(10), 915-921. Wiley
Human Mutation, 36, 915-21
Human Mutation, 36, 10, pp. 915-21
Contains fulltext : 152806.pdf (Publisher’s version ) (Open Access) There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for "the needle in a haystack
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3674b7124c7ae62b984c8bc1cf290e80
https://doi.org/10.1002/humu.22858
https://doi.org/10.1002/humu.22858
Autor:
Pierre Fenaux, Louise C. Strong, Anita Langerød, Nicole Concin, B. Leroy, Patricia Ashton-Prolla, Gareth L. Bond, Sharon A. Savage, Mandy L. Ballinger, Davide Rossi, Robert Zeillinger, Lawrence A. Donehower, Gianluca Gaidano, Thorsten Zenz, Eva Hellström-Lindberg, Šárka Pospíšilová, Wafik S. El-Deiry, Patricia N. Tonin, Kim E. Nichols, Pierre Hainaut, Joseph F. Fraumeni, Fanny Baran-Marszak, Jeffrey N. Myers, Phuong L. Mai, Jacqueline Lehmann-Che, Ute M. Moll, Peter E.M. Taschner, David Malkin, Antony W. Braithwaite, Richard Iggo, Thierry Soussi
Publikováno v:
Cancer Research, 77(6), 1250-1260
Cancer Research
Cancer Research, American Association for Cancer Research, 2017, 77 (6), pp.1250-1260. ⟨10.1158/0008-5472.CAN-16-2179⟩
Cancer Research, 2017, 77 (6), pp.1250-1260. ⟨10.1158/0008-5472.CAN-16-2179⟩
Cancer Research
Cancer Research, American Association for Cancer Research, 2017, 77 (6), pp.1250-1260. ⟨10.1158/0008-5472.CAN-16-2179⟩
Cancer Research, 2017, 77 (6), pp.1250-1260. ⟨10.1158/0008-5472.CAN-16-2179⟩
Accurate assessment of TP53 gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li–Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic data from m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f51ab653f00096d1f7c5c138cc05217
http://hdl.handle.net/1887/94968
http://hdl.handle.net/1887/94968
Publikováno v:
Human Mutation, Volume 35(Issue 6, Special Issue: The TP53 Gene Network in a Post-Genomic Era), 766-778
The architecture of TP 53 , the most frequently mutated gene in human cancer, is more complex than previously thought. Using TP 53 variants as clinical biomarkers to predict response to treatment or patient outcome requires an unequivocal and standar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d843f574041c4f30a2601b5cabd24b78
https://doi.org/10.1002/humu.22561
https://doi.org/10.1002/humu.22561