Zobrazeno 1 - 10
of 173
pro vyhledávání: '"Douglas R Stewart"'
Autor:
Jung Kim, Danielle M Karyadi, Stephen W Hartley, Bin Zhu, Mingyi Wang, Dongjing Wu, Lei Song, Gregory T Armstrong, Smita Bhatia, Leslie L Robison, Yutaka Yasui, Brian Carter, Joshua N Sampson, Neal D Freedman, Alisa M Goldstein, Lisa Mirabello, Stephen J Chanock, Lindsay M Morton, Sharon A Savage, Douglas R Stewart
Publikováno v:
PLoS ONE, Vol 18, Iss 1, p e0280951 (2023)
The use of publicly available sequencing datasets as controls (hereafter, "public controls") in studies of rare variant disease associations has great promise but can increase the risk of false-positive discovery. The specific factors that could cont
Externí odkaz:
https://doaj.org/article/642131f437b34ce39db4400b1058a400
Autor:
Alexander Pemov, Heejong Sung, Paula L Hyland, Jennifer L Sloan, Sarah L Ruppert, Andrea M Baldwin, Joseph F Boland, Sara E Bass, Hyo Jung Lee, Kristine M Jones, Xijun Zhang, NISC Comparative Sequencing Program, James C Mullikin, Brigitte C Widemann, Alexander F Wilson, Douglas R Stewart
Publikováno v:
PLoS Genetics, Vol 10, Iss 10, p e1004575 (2014)
Neurofibromatosis type 1 (NF1) is an autosomal dominant, monogenic disorder of dysregulated neurocutaneous tissue growth. Pleiotropy, variable expressivity and few NF1 genotype-phenotype correlates limit clinical prognostication in NF1. Phenotype com
Externí odkaz:
https://doaj.org/article/61d966c166c5493f8b7e3ef1f0ceb36e
Autor:
Douglas R Stewart, Alexander Pemov, Jennifer J Johnston, Julie C Sapp, Meredith Yeager, Ji He, Joseph F Boland, Laurie Burdett, Christina Brown, Richard A Gatti, Blanche P Alter, Leslie G Biesecker, Sharon A Savage
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e98686 (2014)
Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect, and an increased risk of blood dyscrasia and malignancy. There is considerable phenotypic variability, suggesting
Externí odkaz:
https://doaj.org/article/2fa100a942dc4de6ae41f8672aa47066
Autor:
Kathryn G Ewens, Michelle R Jones, Wendy Ankener, Douglas R Stewart, Margrit Urbanek, Andrea Dunaif, Richard S Legro, Angela Chua, Ricardo Azziz, Richard S Spielman, Mark O Goodarzi, Jerome F Strauss
Publikováno v:
PLoS ONE, Vol 6, Iss 1, p e16390 (2011)
Polycystic ovary syndrome (PCOS) is the leading cause of anovulatory infertility in women. It is also associated with metabolic disturbances that place women at increased risk for obesity and type 2 diabetes. There is strong evidence for familial clu
Externí odkaz:
https://doaj.org/article/5aa4e5c8e7a347be916a2b69a3763120
Autor:
Esteban Astiazaran-Symonds, Gina M. Ney, Cecilia Higgs, Leatrisse Oba, Radhika Srivastava, Alicia A. Livinski, Philip S. Rosenberg, Douglas R. Stewart
Publikováno v:
British Journal of Cancer. 128:2089-2096
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5195e9db78bdf589816857fb5dc5ba23
https://doi.org/10.1038/s41416-023-02229-7
https://doi.org/10.1038/s41416-023-02229-7
Autor:
Louise C. Pyle, Jung Kim, Jonathan Bradfield, Scott M. Damrauer, Kurt D'Andrea, Lawrence H. Einhorn, Rama Godse, Hakon Hakonarson, Peter A. Kanetsky, Rachel L. Kember, Linda A. Jacobs, Kara N. Maxwell, Daniel J. Rader, David J. Vaughn, Benita Weathers, Bradley Wubbenhorst, null Regeneron Genetics Center Research Team, null Cancer Genomics Research Laboratory, Mark H. Greene, Katherine L. Nathanson, Douglas R. Stewart
Publikováno v:
European Urology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f08de52b731ff592a8f26929a5c61edb
https://doi.org/10.1016/j.eururo.2023.05.008
https://doi.org/10.1016/j.eururo.2023.05.008
Autor:
D. Ashley Hill, Yoav H. Messinger, Louis P. Dehner, David Malkin, Dominik T. Schneider, Daniel Orbach, A. Lindsay Frazier, Shari Baldinger, Laura A. Harney, Ann Garrity Carr, Kami Wolfe Schneider, Katherine Schneider, Rachana Shah, Joyce Turner, Andrew J. Bauer, Anne K. Harris, Douglas R. Stewart, Junne Kamihara, Gretchen M. Williams, Kris Ann P. Schultz
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord–stromal tumors, particu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31b8ca35c915f00323ec528d744f7b04
https://doi.org/10.1158/1078-0432.c.6525819
https://doi.org/10.1158/1078-0432.c.6525819
Autor:
D. Ashley Hill, Yoav H. Messinger, Louis P. Dehner, David Malkin, Dominik T. Schneider, Daniel Orbach, A. Lindsay Frazier, Shari Baldinger, Laura A. Harney, Ann Garrity Carr, Kami Wolfe Schneider, Katherine Schneider, Rachana Shah, Joyce Turner, Andrew J. Bauer, Anne K. Harris, Douglas R. Stewart, Junne Kamihara, Gretchen M. Williams, Kris Ann P. Schultz
Searches on PubMed using keyword(s) and DICER1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a77f34eccdfbb93c7a56362f48fe97d
https://doi.org/10.1158/1078-0432.22464828
https://doi.org/10.1158/1078-0432.22464828
Autor:
Douglas R. Stewart, Eric Legius, Luc De Smet, Raf Sciot, Chyi-Chia Richard Lee, Lawrence Yao, Jennifer L. Sloan, Victor Mautner, Kristel Peeters, Eline Beert, Kathleen Claes, Meena Upadhyaya, Ludwine Messiaen, Alexander Pemov, Ophélia Maertens, Caroline Park, Hilde Brems
Supplementary Figure 1 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac8536fc7dfef60248e9b409f1380755
https://doi.org/10.1158/0008-5472.22383468
https://doi.org/10.1158/0008-5472.22383468
Autor:
Douglas R. Stewart, Eric Legius, Luc De Smet, Raf Sciot, Chyi-Chia Richard Lee, Lawrence Yao, Jennifer L. Sloan, Victor Mautner, Kristel Peeters, Eline Beert, Kathleen Claes, Meena Upadhyaya, Ludwine Messiaen, Alexander Pemov, Ophélia Maertens, Caroline Park, Hilde Brems
Neurofibromatosis type 1 (NF1) is a common disorder that arises secondary to mutations in the tumor suppressor gene NF1. Glomus tumors are small, benign but painful tumors that originate from the glomus body, a thermoregulatory shunt concentrated in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fba75da6a413a1889550ffa28755e561
https://doi.org/10.1158/0008-5472.c.6500550
https://doi.org/10.1158/0008-5472.c.6500550