Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Joseph Boland"'
Autor:
Jianxin Shi, Xing Hua, Bin Zhu, Sarangan Ravichandran, Mingyi Wang, Cu Nguyen, Seth A Brodie, Alessandro Palleschi, Marco Alloisio, Gianluca Pariscenti, Kristine Jones, Weiyin Zhou, Aaron J Bouk, Joseph Boland, Belynda Hicks, Adam Risch, Hunter Bennett, Brian T Luke, Lei Song, Jubao Duan, Pengyuan Liu, Takashi Kohno, Qingrong Chen, Daoud Meerzaman, Crystal Marconett, Ite Laird-Offringa, Ian Mills, Neil E Caporaso, Mitchell H Gail, Angela C Pesatori, Dario Consonni, Pier Alberto Bertazzi, Stephen J Chanock, Maria Teresa Landi
Publikováno v:
PLoS Medicine, Vol 13, Iss 12, p e1002162 (2016)
BACKGROUND:Lung adenocarcinoma (LUAD) is the most common histologic subtype of lung cancer and has a high risk of distant metastasis at every disease stage. We aimed to characterize the genomic landscape of LUAD and identify mutation signatures assoc
Externí odkaz:
https://doaj.org/article/30013d5f9ba74edfbd73493a4b002027
Autor:
Bari J Ballew, Vijai Joseph, Saurav De, Grzegorz Sarek, Jean-Baptiste Vannier, Travis Stracker, Kasmintan A Schrader, Trudy N Small, Richard O'Reilly, Chris Manschreck, Megan M Harlan Fleischut, Liying Zhang, John Sullivan, Kelly Stratton, Meredith Yeager, Kevin Jacobs, Neelam Giri, Blanche P Alter, Joseph Boland, Laurie Burdett, Kenneth Offit, Simon J Boulton, Sharon A Savage, John H J Petrini
Publikováno v:
PLoS Genetics, Vol 9, Iss 8, p e1003695 (2013)
Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome
Externí odkaz:
https://doaj.org/article/8227b26c0dbc4b9aa78d97185bee92cb
Autor:
Alexander Pemov, Hyojung Lee, Joseph Boland, Xijun Zhang, Andrea Baldwin, Heejong Sung, Brigitte C. Widemann, Douglas R. Stewart, Nisc Comparative Sequencing Program, Paula L. Hyland, Alexander F. Wilson, Sarah L. Ruppert, Jennifer L. Sloan, Sara Bass, Kristine Jones, James C. Mullikin
Publikováno v:
PLoS Genetics, Vol 10, Iss 10, p e1004575 (2014)
PLoS Genetics
PLoS Genetics
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
Autor:
Ji He, Joseph Boland, Meredith Yeager, Christina Brown, Jennifer J. Johnston, Richard A. Gatti, Alexander Pemov, Laurie Burdett, Sharon A. Savage, Blanche P. Alter, Douglas R. Stewart, Leslie G. Biesecker, Julie C. Sapp
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e98686 (2014)
PLoS ONE
PLoS ONE
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
Autor:
John F. Sullivan, Chris Manschreck, Kenneth Offit, Liying Zhang, Simon J. Boulton, Travis H. Stracker, Saurav De, Vijai Joseph, Kevin B. Jacobs, Kasmintan A. Schrader, Grzegorz Sarek, Trudy N. Small, Neelam Giri, Sharon A. Savage, Bari J. Ballew, Jean-Baptiste Vannier, John H.J. Petrini, Meredith Yeager, Joseph Boland, Richard J. O'Reilly, Laurie Burdett, Megan Harlan Fleischut, Kelly L. Stratton, Blanche P. Alter
Publikováno v:
PLoS Genetics, Vol 9, Iss 8, p e1003695 (2013)
PLoS Genetics
PLoS Genetics
Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome