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Refinado por: assunto: Dna Copy Number Variations remover
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Material Type:
Tese de Doutorado
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Caracterização citogenêmica da deleção do braço curto do cromossomo 5

Chehimi, Samar Nasser

Biblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Medicina 2021-03-25

Acesso online. A biblioteca também possui exemplares impressos.

2
Genomic and Transcriptomic Landscape of Triple-Negative Breast Cancers: Subtypes and Treatment Strategies
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Artigo
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Genomic and Transcriptomic Landscape of Triple-Negative Breast Cancers: Subtypes and Treatment Strategies

Jiang, Yi-Zhou ; Ma, Ding ; Suo, Chen ; Shi, Jinxiu ; Xue, Mengzhu ; Hu, Xin ; Xiao, Yi ; Yu, Ke-Da ; Liu, Yi-Rong ; Yu, Ying ; Zheng, Yuanting ; Li, Xiangnan ; Zhang, Chenhui ; Hu, Pengchen ; Zhang, Jing ; Hua, Qi ; Zhang, Jiyang ; Hou, Wanwan ; Ren, Luyao ; Bao, Ding ; Li, Bingying ; Yang, Jingcheng ; Yao, Ling ; Zuo, Wen-Jia ; Zhao, Shen ; Gong, Yue ; Ren, Yi-Xing ; Zhao, Ya-Xin ; Yang, Yun-Song ; Niu, Zhenmin ; Cao, Zhi-Gang ; Stover, Daniel G. ; Verschraegen, Claire ; Kaklamani, Virginia ; Daemen, Anneleen ; Benson, John R. ; Takabe, Kazuaki ; Bai, Fan ; Li, Da-Qiang ; Wang, Peng ; Shi, Leming ; Huang, Wei ; Shao, Zhi-Ming

Cancer cell, 2019-03, Vol.35 (3), p.428-440.e5 [Periódico revisado por pares]

United States: Elsevier Inc

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3
A copy number variation map of the human genome
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Artigo
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A copy number variation map of the human genome

Zarrei, Mehdi ; MacDonald, Jeffrey R ; Merico, Daniele ; Scherer, Stephen W

Nature reviews. Genetics, 2015-03, Vol.16 (3), p.172-183 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Pathogenic Germline Variants in 10,389 Adult Cancers
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Artigo
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Pathogenic Germline Variants in 10,389 Adult Cancers

Ritter, Deborah I. ; Reynolds, Sheila ; Houlahan, Kathleen E. ; Cho, Juok ; Reynolds, Sheila ; Akbani, Rehan ; Phillips, Sarah M. ; Zhang, Hongxin ; Balasundaram, Miruna ; Chuah, Eric ; Holt, Robert ; Schein, Jacqueline E. ; Sipahimalani, Payal ; Thiessen, Nina ; Beroukhim, Rameen ; Cope, Leslie ; Weisenberger, Daniel J. ; Hoyle, Alan P. ; Jefferys, Stuart R. ; Mieczkowski, Piotr A. ; Perou, Amy H. ; Shi, Yan ; Veluvolu, Umadevi ; Fan, Huihui ; Donehower, Lawrence A. ; Ding, Li ; Mardis, Elaine R. ; Curley, Erin ; Mallery, David ; Paulauskis, Joseph ; Lichtenberg, Tara M. ; Eschbacher, Jennifer ; Ittmann, Michael ; Andry, Chris ; Tavobilov, Mikhail ; Cramer, Daniel ; Barrett, Wendi ; Karlan, Beth Y. ; Zach, Leigh Anne ; Hu, Hai ; Swanson, Patricia ; Chabot, John ; Su, Tao ; Voronina, Olga ; Signoretti, Sabina ; Berchuck, Andrew ; Houck, John ; Hartmann, Arndt ; Hanh, Phan Thi ; Juhl, Hartmut ; Kopp, Karla ; Roberts, Lewis ; Yang, Ju Dong ; Moran, Cesar ; Ramondetta, Lois ; Troncoso, Patricia ; Tsao, Anne ; Wistuba, Ignacio ; Scolyer, Richard ; Stretch, Jonathan ; Wilmott, James ; Reuter, Victor ; Park, Joong-Won ; Hung, Nguyen Phi ; Kebebew, Electron ; Pinto, Peter A. ; Moncrieff, Marc ; Pass, Harvey ; Botnariuc, Natalia ; Pirtac, Maria ; Tamakawa, Raina ; Antenucci, Anna ; Facciolo, Francesco ; Chevalier, Simone ; Brewer, Cathy ; Pennell, Nathan A. ; Omberg, Larsson ; Pilarski, Robert ; Senecal, Kelly ; Schadendorf, Dirk ; Sauter, Guido ; Olabode, Oluwole ; Disaia, Philip ; Roggin, Kevin ; Mannelli, Massimo ; Postier, Russel ; Walker, Joan ; Feldman, Michael ; Dhir, Rajiv ; Luketich, James ; Prince, Mark ; Rozek, Laura ; Fong, Kwun M. ; Shriver, Craig D. ; Govindan, Ramaswamy ; Heath, Sharon ; Aredes, Natália D. ; Wendl, Michael C. ; Reimand, Jüri ; Meric-Bernstam, Funda

Cell, 2018-04, Vol.173 (2), p.355-370.e14 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p
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Artigo
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Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

Weiner, Daniel J ; Ling, Emi ; Erdin, Serkan ; Tai, Derek J C ; Yadav, Rachita ; Grove, Jakob ; Fu, Jack M ; Nadig, Ajay ; Carey, Caitlin E ; Baya, Nikolas ; Bybjerg-Grauholm, Jonas ; Berretta, Sabina ; Macosko, Evan Z ; Sebat, Jonathan ; O'Connor, Luke J ; Hougaard, David M ; Børglum, Anders D ; Talkowski, Michael E ; McCarroll, Steven A ; Robinson, Elise B

Nature genetics, 2022-11, Vol.54 (11), p.1630-1639 [Periódico revisado por pares]

United States: Nature Publishing Group

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6
TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis
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Artigo
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TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

Wu, Nan ; Ming, Xuan ; Xiao, Jianqiu ; Wu, Zhihong ; Chen, Xiaoli ; Shinawi, Marwan ; Shen, Yiping ; Yu, Guangju ; Liu, Jiaqi ; Xie, Hua ; Gucev, Zoran S ; Liu, Sen ; Yang, Nan ; Al-Kateb, Hussam ; Chen, Jun ; Zhang, Jian ; Hauser, Natalie ; Zhang, Ting ; Tasic, Velibor ; Liu, Pengfei ; Su, Xinlin ; Pan, Xuedong ; Liu, Chunyu ; Wang, Liwen ; Shen, Joseph ; Shen, Jianxiong ; Chen, Yulin ; Zhang, Ting ; Zhang, Jianguo ; Choy, Kwong Wai ; Wang, Jun ; Wang, Qiqi ; Li, Shugang ; Zhou, Weichen ; Guo, Jin ; Wang, Yipeng ; Zhang, Cheng ; Zhao, Hong ; An, Yu ; Zhao, Yu ; Wang, Jiucun ; Liu, Zhenlei ; Zuo, Yuzhi ; Tian, Ye ; Weng, Xisheng ; Sutton, V. Reid ; Wang, Hongyan ; Ming, Yue ; Kulkarni, Shashikant ; Zhong, Tao P ; Giampietro, Philip F ; Dunwoodie, Sally L ; Cheung, Sau Wai ; Zhang, Xue ; Jin, Li ; Lupski, James R ; Qiu, Guixing ; Zhang, Feng

The New England journal of medicine, 2015-01, Vol.372 (4), p.341-350 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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7
Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival
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Artigo
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Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival

Bai, Jiwei ; Shi, Jianxin ; Li, Chuzhong ; Wang, Shuai ; Zhang, Tongwu ; Hua, Xing ; Zhu, Bin ; Koka, Hela ; Wu, Ho-Hsiang ; Song, Lei ; Wang, Difei ; Wang, Mingyi ; Zhou, Weiyin ; Ballew, Bari J ; Zhu, Bin ; Hicks, Belynda ; Mirabello, Lisa ; Parry, Dilys M ; Zhai, Yixuan ; Li, Mingxuan ; Du, Jiang ; Wang, Junmei ; Zhang, Shuheng ; Liu, Qian ; Zhao, Peng ; Gui, Songbai ; Goldstein, Alisa M ; Zhang, Yazhuo ; Yang, Xiaohong R

Nature communications, 2021-02, Vol.12 (1), p.757-757, Article 757 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Copy number variation and neuropsychiatric illness
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Artigo
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Copy number variation and neuropsychiatric illness

Rees, Elliott ; Kirov, George

Current opinion in genetics & development, 2021-06, Vol.68, p.57-63 [Periódico revisado por pares]

England: Elsevier Ltd

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9
16p11.2 deletion syndrome
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Artigo
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16p11.2 deletion syndrome

Chung, Wendy K ; Roberts, Timothy PL ; Sherr, Elliott H ; Snyder, LeeAnne Green ; Spiro, John E

Current opinion in genetics & development, 2021-06, Vol.68, p.49-56 [Periódico revisado por pares]

England: Elsevier Ltd

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10
Complementary information derived from CRISPR Cas9 mediated gene deletion and suppression
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Artigo
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Complementary information derived from CRISPR Cas9 mediated gene deletion and suppression

Rosenbluh, Joseph ; Xu, Han ; Harrington, William ; Gill, Stanley ; Wang, Xiaoxing ; Vazquez, Francisca ; Root, David E ; Tsherniak, Aviad ; Hahn, William C

Nature communications, 2017-05, Vol.8 (1), p.15403-15403, Article 15403 [Periódico revisado por pares]

England: Nature Publishing Group

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