Zobrazeno 1 - 10
of 185
pro vyhledávání: '"Thomas W, Prior"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background Prion diseases are a group of lethal neurodegenerative conditions that occur when the normal, cellular form of the prion protein (PrPC) is converted into an abnormal, scrapie, form of the protein (PrPSc). Disease may be caused by
Externí odkaz:
https://doaj.org/article/53ce281deb924a6893c174d8b826a439
Autor:
Nicholas Brennecke, Ignazio Cali, Tze How Mok, Helen Speedy, Genomics England Research Consortium, Laszlo L. P. Hosszu, Christiane Stehmann, Laura Cracco, Gianfranco Puoti, Thomas W. Prior, Mark L. Cohen, Steven J. Collins, Simon Mead, Brian S. Appleby
Publikováno v:
Viruses, Vol 13, Iss 9, p 1794 (2021)
Genetic prion disease accounts for 10–15% of prion disease. While insertion of four or more octapeptide repeats are clearly pathogenic, smaller repeat insertions have an unclear pathogenicity. The goal of this case series was to provide an insight
Externí odkaz:
https://doaj.org/article/c04a6d71b61f49a99831430bef4d4116
Autor:
Nikolaus Jahn, Ekaterina Jahn, Maral Saadati, Lars Bullinger, Richard A. Larson, Tiziana Ottone, Sergio Amadori, Thomas W. Prior, Joseph M. Brandwein, Frederick R. Appelbaum, Bruno C. Medeiros, Martin S. Tallman, Gerhard Ehninger, Michael Heuser, Arnold Ganser, Celine Pallaud, Insa Gathmann, Julia Krzykalla, Axel Benner, Clara D. Bloomfield, Christian Thiede, Richard M. Stone, Hartmut Döhner, Konstanze Döhner
Publikováno v:
Leukemia. 36:2218-2227
The aim of this study was to characterize the mutational landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the randomized CALGB 10603/RATIFY trial evaluating intensive chemotherapy plus the multi-kinase inhibitor mid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdca00cf67fa054b8c6707f927bd96e4
https://doi.org/10.1038/s41375-022-01650-w
https://doi.org/10.1038/s41375-022-01650-w
Autor:
Albert de la Chapelle, Gary Reid, Jeffrey Bell, Luis Vaccarello, George Lewandowski, Jeffrey Fowler, Lynne Eaton, Larry Copeland, David E. Cohn, Patti Dunn, Janet Lombardi, Pamela Penzone, Mark Clendenning, Thomas W. Prior, Judith A. Westman, Hidewaki Nakagawa, Jennifer La Jeunesse, Ilene Comeras, Daniel Fix, Kaisa Sotamaa, Janet Lockman, Jenny Panescu, Wendy Frankel, Heather Hampel
Supplementary Table 2 from Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10f2623c3019c349612ce8e10696b0c4
https://doi.org/10.1158/0008-5472.22365396.v1
https://doi.org/10.1158/0008-5472.22365396.v1
Autor:
Albert de la Chapelle, Gary Reid, Jeffrey Bell, Luis Vaccarello, George Lewandowski, Jeffrey Fowler, Lynne Eaton, Larry Copeland, David E. Cohn, Patti Dunn, Janet Lombardi, Pamela Penzone, Mark Clendenning, Thomas W. Prior, Judith A. Westman, Hidewaki Nakagawa, Jennifer La Jeunesse, Ilene Comeras, Daniel Fix, Kaisa Sotamaa, Janet Lockman, Jenny Panescu, Wendy Frankel, Heather Hampel
Endometrial cancer is the most common cancer in women with Lynch syndrome. The identification of individuals with Lynch syndrome is desirable because they can benefit from increased cancer surveillance. The purpose of this study was to determine the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a91e8ac3166f8d33fb2e210382bbf136
https://doi.org/10.1158/0008-5472.c.6494682
https://doi.org/10.1158/0008-5472.c.6494682
Autor:
Brian H. Shirts, Peter G. Shields, Dan Jones, Lori Nelsen, Sameer Mahesh, Jo L. Freudenheim, Shyamal Bastola, Kisa Weeman, Yinong Liu, Electra D. Paskett, Esther H. Rehmus, Matthew F. Kalady, Wendy L. Frankel, Jeffrey Zangmeister, Paul J. Goodfellow, Brandie Heald, Christopher Bigley, Mitchell Haut, Shelly Cummings, Kristin Miller, Mark Arnold, Sharon Cole, Chaoyang Li, Albert de la Chapelle, Ian M. Paquette, Weiqiang Zhao, Rachel Pearlman, Ahmet Yilmaz, Filix Kencana, Heather Hampel, Peter P. Stanich, Albert Malcolm, Thomas W. Prior, Richard M. Goldberg, Joanna M. Brell, David J Draper, Aruna Gowda, Jason Bacher, Charles Bane, Ilene Lattimer, Angela Jacobson, Colin C. Pritchard, Benjamin Swanson
Publikováno v:
JCO Precis Oncol
PURPOSE Hereditary cancer syndromes infer high cancer risks and require intensive surveillance. Identification of high-risk individuals among patients with colorectal cancer (CRC) needs improvement. METHODS Three thousand three hundred ten unselected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22454ae340b5efe29cea1172370f2579
https://doi.org/10.1200/po.20.00525
https://doi.org/10.1200/po.20.00525
Autor:
Ben L. Sanford, Martin S. Tallman, Richard F. Schlenk, Lucas J. Huebner, Jürgen Krauter, Hartmut Döhner, Maria Teresa Voso, Hubert Serve, Andrew H. Wei, Jorge Sierra, Bruno C. Medeiros, Dietger Niederwieser, Arnold Ganser, Insa Gathmann, Miguel A. Sanz, Joseph Brandwein, Rebecca B. Klisovic, Sergio Amadori, Christian Thiede, Thomas W. Prior, Richard A. Larson, Theo de Witte, Konstanze Döhner, Kristina Laumann, Richard Stone, Clara D. Bloomfield, Frederick R. Appelbaum, Guido Marcucci, Gerhard Ehninger, Ilene Galinsky, Susan Geyer, Sumithra J. Mandrekar
Publikováno v:
Leukemia, 35, 9, pp. 2539-2551
Leukemia, 35, 2539-2551
Leukemia
LEUKEMIA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Leukemia, 35, 2539-2551
Leukemia
LEUKEMIA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Contains fulltext : 237748.pdf (Publisher’s version ) (Closed access) The prospective randomized, placebo-controlled CALGB 10603/RATIFY trial (Alliance) demonstrated a statistically significant overall survival benefit from the addition of midostau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32dbedd4a3766d3bcd8c06c784eca412
https://doi.org/10.1038/s41375-021-01179-4
https://doi.org/10.1038/s41375-021-01179-4
Autor:
Pinar Bayrak-Toydemir, Junqing Shen, Rong Mao, James D. Metcalf, Victoria M. Pratt, Aiko Iwata-Otsubo, Thomas W. Prior, Ty C. Lynnes, Shumaila Qureshi, Ha T. Pham, Francesco Vetrini, Kasinathan Muralidharan, Lisa V. Kalman, Deborah Requesens
Publikováno v:
The Journal of Molecular Diagnostics. 23:103-110
Spinal muscular atrophy (SMA) is an autosomal recessive disorder predominately caused by bi-allelic loss of the SMN1 gene. Increased copies of SMN2, a low functioning nearly identical paralog, are associated with a less severe phenotype. SMA was rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a44ca04c8730c66122101236280c7b9
https://doi.org/10.1016/j.jmoldx.2020.10.011
https://doi.org/10.1016/j.jmoldx.2020.10.011
Publikováno v:
The Application of Clinical Genetics
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which causes severe progressive hypotonia and muscular weakness. With a carrier frequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d496f850e7ef9c97780107a86c105c
http://europepmc.org/articles/PMC7846873
http://europepmc.org/articles/PMC7846873
Autor:
Douglas A. Kerr, Nancy L. Kuntz, John W. Day, Jacinda B. Sampson, Anne M. Connolly, R. Rodney Howell, Jacqueline J. Glascock, Katherine W. Klinger, Jill Jarecki, Thomas O. Crawford, Basil T. Darras, Richard S. Finkel, Perry B. Shieh, Thomas W. Prior
Publikováno v:
Journal of Neuromuscular Diseases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb7e511b53207dfa4b1309d0610d5f7
http://europepmc.org/articles/PMC7175931
http://europepmc.org/articles/PMC7175931