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Refinado por: assunto: Mutation remover
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1
Myocardial Fibrosis as an Early Manifestation of Hypertrophic Cardiomyopathy
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Artigo
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Myocardial Fibrosis as an Early Manifestation of Hypertrophic Cardiomyopathy

Ho, Carolyn Y ; López, Begoña ; Coelho-Filho, Otavio R ; Lakdawala, Neal K ; Cirino, Allison L ; Jarolim, Petr ; Kwong, Raymond ; González, Arantxa ; Colan, Steven D ; Seidman, J.G ; Seidman, Christine E ; Díez, Javier

The New England journal of medicine, 2010-08, Vol.363 (6), p.552-563 [Periódico revisado por pares]

Waltham, MA: Massachusetts Medical Society

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2
Genomic correlates of response to immune checkpoint therapies in clear cell renal cell carcinoma
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Genomic correlates of response to immune checkpoint therapies in clear cell renal cell carcinoma

Miao, Diana ; Margolis, Claire A ; Gao, Wenhua ; Voss, Martin H ; Li, Wei ; Martini, Dylan J ; Norton, Craig ; Bossé, Dominick ; Wankowicz, Stephanie M ; Cullen, Dana ; Horak, Christine ; Wind-Rotolo, Megan ; Tracy, Adam ; Giannakis, Marios ; Hodi, Frank Stephen ; Drake, Charles G ; Ball, Mark W ; Allaf, Mohamad E ; Snyder, Alexandra ; Hellmann, Matthew D ; Ho, Thai ; Motzer, Robert J ; Signoretti, Sabina ; Kaelin, Jr, William G ; Choueiri, Toni K ; Van Allen, Eliezer M

Science (American Association for the Advancement of Science), 2018-02, Vol.359 (6377), p.801-806 [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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3
Glioma progression is shaped by genetic evolution and microenvironment interactions
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Glioma progression is shaped by genetic evolution and microenvironment interactions

Varn, Frederick S. ; Johnson, Kevin C. ; Martinek, Jan ; Huse, Jason T. ; Wesseling, Pieter ; Cooper, Lee A.D. ; Malta, Tathiane M. ; Wade, Taylor E. ; Brat, Daniel ; Aldape, Kenneth ; Ismail, Azzam ; Kim, Hoon ; White, Kieron ; Pollock, Steven ; Goldfarb, Christine ; Lee, Ga-Hyun ; Anderson, Kevin J. ; Nehar-Belaid, Djamel ; Bakas, Spyridon ; Byrne, Annette T. ; D’Angelo, Fulvio ; Gan, Hui K. ; Khasraw, Mustafa ; Migliozzi, Simona ; Paek, Sun Ha ; Walenkamp, Annemiek M.E. ; Weiss, Tobias ; Poisson, Laila M. ; Noushmehr, Houtan ; Iavarone, Antonio ; Verhaak, Roel G.W. ; Varn, Frederick S. ; Huse, Jason T. ; Nasrallah, MacLean P. ; Wesseling, Pieter ; Cooper, Lee A.D. ; Malta, Tathiane M. ; Sabedot, Thais S. ; Brat, Daniel ; Gould, Peter V. ; Aldape, Kenneth ; Sivajothi, Santhosh K. ; Barthel, Floris P. ; Kocakavuk, Emre ; Ahmed, Nazia ; White, Kieron ; Moon, Hyo-Eun ; Pollock, Steven ; Lee, Ga-Hyun ; Garofano, Luciano ; Anderson, Kevin J. ; Nehar-Belaid, Djamel ; Barnholtz-Sloan, Jill S. ; Bakas, Spyridon ; Byrne, Annette T. ; Gan, Hui K. ; Khasraw, Mustafa ; Ryan Ormond, D. ; Ha Paek, Sun ; Van Meir, Erwin G. ; Walenkamp, Annemiek M.E. ; Watts, Colin ; Weiss, Tobias ; Weller, Michael ; Amin, Samirkumar B. ; Brodbelt, Andrew ; Bulsara, Ketan R. ; Castro, Ana Valeria ; Connelly, Jennifer M. ; Costello, Joseph F. ; Finocchiaro, Gaetano ; French, Pim J. ; Hau, Ann C. ; Hong, Chibo ; Horbinski, Craig ; Kannan, Kasthuri S. ; Kouwenhoven, Mathilde CM ; LaViolette, Peter S. ; Ligon, Keith L. ; Lowman, Allison K. ; Miletic, Hrvoje ; Niers, Johanna M. ; Phillips, Joanna J. ; Rabadan, Raul ; Rao, Ganesh ; Reifenberger, Guido ; Sanai, Nader ; Short, Susan C. ; Suzuki, Hiromichi ; Tabatabai, Ghazaleh ; Tomaszewski, William H. ; Wells, Michael ; Wheeler, Helen ; Xie, Jichun ; Alfred Yung, W.K. ; Zadeh, Gelareh ; Poisson, Laila M. ; Noushmehr, Houtan ; Iavarone, Antonio ; Verhaak, Roel GW

Cell, 2022-06, Vol.185 (12), p.2184-2199.e16 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Truncations of Titin Causing Dilated Cardiomyopathy
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Truncations of Titin Causing Dilated Cardiomyopathy

Herman, Daniel S ; Lam, Lien ; Taylor, Matthew R.G ; Wang, Libin ; Teekakirikul, Polakit ; Christodoulou, Danos ; Conner, Lauren ; DePalma, Steven R ; McDonough, Barbara ; Sparks, Elizabeth ; Teodorescu, Debbie Lin ; Cirino, Allison L ; Banner, Nicholas R ; Pennell, Dudley J ; Graw, Sharon ; Merlo, Marco ; Di Lenarda, Andrea ; Sinagra, Gianfranco ; Bos, J. Martijn ; Ackerman, Michael J ; Mitchell, Richard N ; Murry, Charles E ; Lakdawala, Neal K ; Ho, Carolyn Y ; Barton, Paul J.R ; Cook, Stuart A ; Mestroni, Luisa ; Seidman, Christine E ; Seidman, J.G

The New England journal of medicine, 2012-02, Vol.366 (7), p.619-628 [Periódico revisado por pares]

Waltham, MA: Massachusetts Medical Society

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5
Ablation of lysophosphatidic acid receptor 1 attenuates hypertrophic cardiomyopathy in a mouse model
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Ablation of lysophosphatidic acid receptor 1 attenuates hypertrophic cardiomyopathy in a mouse model

Axelsson Raja, Anna ; Wakimoto, Hiroko ; DeLaughter, Daniel M ; Reichart, Daniel ; Gorham, Joshua ; Conner, David A ; Lun, Mingyue ; Probst, Clemens K ; Sakai, Norihiko ; Knipe, Rachel S ; Montesi, Sydney B ; Shea, Barry ; Adam, Leonard P ; Leinwand, Leslie A ; Wan, William ; Choi, Esther Sue ; Lindberg, Eric L ; Patone, Giannino ; Noseda, Michela ; Hübner, Norbert ; Seidman, Christine E ; Tager, Andrew M ; Seidman, J G ; Ho, Carolyn Y

Proceedings of the National Academy of Sciences - PNAS, 2022-07, Vol.119 (28), p.e2204174119-e2204174119 [Periódico revisado por pares]

United States: National Academy of Sciences

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6
The mutational landscape of adenoid cystic carcinoma
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Artigo
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The mutational landscape of adenoid cystic carcinoma

Ho, Allen S ; Kannan, Kasthuri ; Roy, David M ; Morris, Luc G T ; Ganly, Ian ; Katabi, Nora ; Ramaswami, Deepa ; Walsh, Logan A ; Eng, Stephanie ; Huse, Jason T ; Zhang, Jianan ; Dolgalev, Igor ; Huberman, Kety ; Heguy, Adriana ; Viale, Agnes ; Drobnjak, Marija ; Leversha, Margaret A ; Rice, Christine E ; Singh, Bhuvanesh ; Iyer, N Gopalakrishna ; Leemans, C Rene ; Bloemena, Elisabeth ; Ferris, Robert L ; Seethala, Raja R ; Gross, Benjamin E ; Liang, Yupu ; Sinha, Rileen ; Peng, Luke ; Raphael, Benjamin J ; Turcan, Sevin ; Gong, Yongxing ; Schultz, Nikolaus ; Kim, Seungwon ; Chiosea, Simion ; Shah, Jatin P ; Sander, Chris ; Lee, William ; Chan, Timothy A

Nature genetics, 2013-07, Vol.45 (7), p.791-798 [Periódico revisado por pares]

United States: Nature Publishing Group

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7
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study
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Artigo
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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

Ross, Owen A, Dr ; Soto-Ortolaza, Alexandra I, BSc ; Heckman, Michael G, MS ; Aasly, Jan O, Prof ; Abahuni, Nadine, MD ; Annesi, Grazia, Prof ; Bacon, Justin A, BSc ; Bardien, Soraya, PhD ; Bozi, Maria, MD ; Brice, Alexis, Prof ; Brighina, Laura, MD ; Van Broeckhoven, Christine, Prof ; Carr, Jonathan, Prof ; Chartier-Harlin, Marie-Christine, Prof ; Dardiotis, Efthimios, MD ; Dickson, Dennis W, Prof ; Diehl, Nancy N, BS ; Elbaz, Alexis, Prof ; Ferrarese, Carlo, Prof ; Ferraris, Alessandro, MD ; Fiske, Brian, PhD ; Gibson, J Mark, Prof ; Gibson, Rachel, PhD ; Hadjigeorgiou, Georgios M, MD ; Hattori, Nobutaka, Prof ; Ioannidis, John PA, Prof ; Jasinska-Myga, Barbara, MD ; Jeon, Beom S, Prof ; Kim, Yun Joong, Prof ; Klein, Christine, Prof ; Kruger, Rejko, MD ; Kyratzi, Elli, MD ; Lesage, Suzanne, PhD ; Lin, Chin-Hsien, MD ; Lynch, Timothy, Prof ; Maraganore, Demetrius M, Prof ; Mellick, George D, PhD ; Mutez, Eugénie, MD ; Nilsson, Christer, Prof ; Opala, Grzegorz, Prof ; Park, Sung Sup, Prof ; Puschmann, Andreas, MD ; Quattrone, Aldo, Prof ; Sharma, Manu, PhD ; Silburn, Peter A, Prof ; Sohn, Young Ho, Prof ; Stefanis, Leonidas, MD ; Tadic, Vera, MD ; Theuns, Jessie, PhD ; Tomiyama, Hiroyuki, MD ; Uitti, Ryan J, Prof ; Valente, Enza Maria, Prof ; van de Loo, Simone, PhD ; Vassilatis, Demetrios K, PhD ; Vilariño-Güell, Carles, PhD ; White, Linda R, Prof ; Wirdefeldt, Karin, MD ; Wszolek, Zbigniew K, Prof ; Wu, Ruey-Meei, Prof ; Farrer, Matthew J, Prof

Lancet neurology, 2011-10, Vol.10 (10), p.898-908 [Periódico revisado por pares]

England: Elsevier Ltd

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8
Gene mutations in apical hypertrophic cardiomyopathy
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Artigo
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Gene mutations in apical hypertrophic cardiomyopathy

ARAD, Michael ; PENAS-LADO, Manual ; SEIDMAN, J. G ; SEIDMAN, Christine E ; MONSERRAT, Lorenzo ; MARON, Barry J ; SHERRID, Mark ; HO, Carolyn Y ; BARR, Scott ; KARIM, Ahmad ; OLSON, Timothy M ; KAMISAGO, Mitsohiro

Circulation (New York, N.Y.), 2005-11, Vol.112 (18), p.2805-2811 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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9
Major p53 immunohistochemical patterns in in situ and invasive squamous cell carcinomas of the vulva and correlation with TP53 mutation status
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Artigo
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Major p53 immunohistochemical patterns in in situ and invasive squamous cell carcinomas of the vulva and correlation with TP53 mutation status

Tessier-Cloutier, Basile ; Kortekaas, Kim E ; Thompson, Emily ; Pors, Jennifer ; Chen, Julia ; Ho, Julie ; Prentice, Leah M ; McConechy, Melissa K ; Chow, Christine ; Proctor, Lily ; McAlpine, Jessica N ; Huntsman, David G ; Gilks, C Blake ; Bosse, Tjalling ; Hoang, Lynn N

Modern pathology, 2020-08, Vol.33 (8), p.1595-1605 [Periódico revisado por pares]

United States: Nature Publishing Group

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10
Cytoplasmic body pathology in severe ACTA1 -related myopathy in the absence of typical nemaline rods
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Cytoplasmic body pathology in severe ACTA1 -related myopathy in the absence of typical nemaline rods

Donkervoort, Sandra ; Chan, Sophelia HS ; Hotchkiss, Leslie ; Bradley, Nathaniel ; Nguyen, David ; Leach, Meganne E ; Mohassel, Payam ; Hu, Ying ; Thangarajh, Mathula ; Bharucha-Goebel, Diana ; Kan, Amanda ; Ho, Ronnie SL ; Reyes, Christine ; Nance, Jessica ; Moore, Steven A ; Foley, A. Reghan ; Bönnemann, Carsten G

Neuromuscular disorders : NMD, 2017-06, Vol.27 (6), p.531-536 [Periódico revisado por pares]

England: Elsevier B.V

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