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1
Diagnóstico molecular na prática clínica: visão do endocrinologista; Molecular diagnosis in the clinical practice: an endocrinologist’s perspective
Diagnóstico molecular na prática clínica: visão do endocrinologista; Molecular diagnosis in the clinical practice: an endocrinologist’s perspective
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Diagnóstico molecular na prática clínica: visão do endocrinologista; Molecular diagnosis in the clinical practice: an endocrinologist’s perspective

Ferraz-De-Souza, Bruno

Revista de Medicina; v. 94 n. 4 (2015); 201-210

Universidade de São Paulo. Faculdade de Medicina 2015-12-22

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2
Synaptic, transcriptional and chromatin genes disrupted in autism
Synaptic, transcriptional and chromatin genes disrupted in autism
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Synaptic, transcriptional and chromatin genes disrupted in autism

De Rubeis, Silvia ; He, Xin ; Goldberg, Arthur P ; Poultney, Christopher S ; Samocha, Kaitlin ; Cicek, A Erucment ; Kou, Yan ; Liu, Li ; Fromer, Menachem ; Walker, Susan ; Singh, Tarinder ; Klei, Lambertus ; Kosmicki, Jack ; Shih-Chen, Fu ; Aleksic, Branko ; Biscaldi, Monica ; Bolton, Patrick F ; Brownfeld, Jessica M ; Cai, Jinlu ; Campbell, Nicholas G ; Carracedo, Angel ; Chahrour, Maria H ; Chiocchetti, Andreas G ; Coon, Hilary ; Crawford, Emily L ; Curran, Sarah R ; Dawson, Geraldine ; Duketis, Eftichia ; Fernandez, Bridget A ; Gallagher, Louise ; Geller, Evan ; Guter, Stephen J ; Hill, R Sean ; Ionita-Laza, Juliana ; Jimenz Gonzalez, Patricia ; Kilpinen, Helena ; Klauck, Sabine M ; Kolevzon, Alexander ; Lee, Irene ; Lei, Irene ; Lei, Jing ; Lehtimäki, Terho ; Lin, Chiao-Feng ; Ma'ayan, Avi ; Marshall, Christian R ; McInnes, Alison L ; Neale, Benjamin ; Owen, Michael J ; Ozaki, Noriio ; Parellada, Mara ; Parr, Jeremy R ; Purcell, Shaun ; Puura, Kaija ; Rajagopalan, Deepthi ; Rehnström, Karola ; Reichenberg, Abraham ; Sabo, Aniko ; Sachse, Michael ; Sanders, Stephan J ; Schafer, Chad ; Schulte-Rüther, Martin ; Skuse, David ; Stevens, Christine ; Szatmari, Peter ; Tammimies, Kristiina ; Valladares, Otto ; Voran, Annette ; Li-San, Wang ; Weiss, Lauren A ; Willsey, A Jeremy ; Yu, Timothy W ; Yuen, Ryan K C ; Cook, Edwin H ; Freitag, Christine M ; Gill, Michael ; Hultman, Christina M ; Lehner, Thomas ; Palotie, Aaarno ; Schellenberg, Gerard D ; Sklar, Pamela ; State, Matthew W ; Sutcliffe, James S ; Walsh, Christiopher A ; Scherer, Stephen W ; Zwick, Michael E ; Barett, Jeffrey C ; Cutler, David J ; Roeder, Kathryn ; Devlin, Bernie ; Daly, Mark J ; Buxbaum, Joseph D

Nature (London), 2014-11, Vol.515 (7526), p.209-215 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Mutation of A677 in histone methyltransferase EZH2 in human B-cell lymphoma promotes hypertrimethylation of histone H3 on lysine 27 (H3K27)
Mutation of A677 in histone methyltransferase EZH2 in human B-cell lymphoma promotes hypertrimethylation of histone H3 on lysine 27 (H3K27)
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Mutation of A677 in histone methyltransferase EZH2 in human B-cell lymphoma promotes hypertrimethylation of histone H3 on lysine 27 (H3K27)

McCabe, Michael T ; Graves, Alan P ; Ganji, Gopinath ; Diaz, Elsie ; Halsey, Wendy S ; Jiang, Yong ; Smitheman, Kimberly N ; Ott, Heidi M ; Pappalardi, Melissa B ; Allen, Kimberly E ; Chen, Stephanie B ; Della Pietra, Anthony III ; Dul, Edward ; Hughes, Ashley M ; Gilbert, Seth A ; Thrall, Sara H ; Tummino, Peter J ; Kruger, Ryan G ; Brandt, Martin ; Schwartz, Benjamin ; Creasy, Caretha L

Proceedings of the National Academy of Sciences - PNAS, 2012-02, Vol.109 (8), p.2989-2994 [Periódico revisado por pares]

United States: National Academy of Sciences

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4
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

WU, Chi-Hong ; FALLINI, Claudia ; KOST, Jason E ; GONZALEZ-PEREZ, Paloma ; FOX, Andrew D ; ADAMS, Jenni ; TARONI, Franco ; TILOCA, Cinzia ; LYN LECLERC, Ashley ; CHAFE, Shawn C ; MANGROO, Dev ; MOORE, Melissa J ; TICOZZI, Nicola ; ZITZEWITZ, Jill A ; XU, Zuo-Shang ; DEN BERG, Leonard H. Van ; GLASS, Jonathan D ; SICILIANO, Gabriele ; CIRULLI, Elizabeth T ; GOLDSTEIN, David B ; SALACHAS, Francois ; MEININGER, Vincent ; ROSSOLL, Wilfried ; KEAGLE, Pamela J ; RATTI, Antonia ; GELLERA, Cinzia ; BOSCO, Daryl A ; BASSELL, Gary J ; SILANI, Vincenzo ; DRORY, Vivian E ; BROWN, Robert H ; LANDERS, John E ; SAPP, Peter C ; PIOTROWSKA, Katarzyna ; LOWE, Patrick ; KOPPERS, Max ; MCKENNA-YASEK, Diane ; BARON, Desiree M

Nature (London), 2012-08, Vol.488 (7412), p.499-503 [Periódico revisado por pares]

London: Nature Publishing Group

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5
Landscape of somatic mutations and clonal evolution in mantle cell lymphoma
Landscape of somatic mutations and clonal evolution in mantle cell lymphoma
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Landscape of somatic mutations and clonal evolution in mantle cell lymphoma

Beà, Sílvia ; Valdés-Mas, Rafael ; Navarro, Alba ; Salaverria, Itziar ; Martín-Garcia, David ; Jares, Pedro ; Giné, Eva ; Pinyol, Magda ; Royo, Cristina ; Nadeu, Ferran ; Conde, Laura ; Juan, Manel ; Clot, Guillem ; Vizán, Pedro ; Di Croce, Luciano ; Puente, Diana A. ; López-Guerra, Mónica ; Moros, Alexandra ; Roue, Gael ; Aymerich, Marta ; Villamor, Neus ; Colomo, Lluís ; Martínez, Antonio ; Valera, Alexandra ; Martín-Subero, José I. ; Amador, Virginia ; Hernández, Luis ; Rozman, Maria ; Enjuanes, Anna ; Forcada, Pilar ; Muntañola, Ana ; Hartmann, Elena M. ; Calasanz, María J. ; Rosenwald, Andreas ; Ott, German ; Hernández-Rivas, Jesús M. ; Klapper, Wolfram ; Siebert, Reiner ; Wiestner, Adrian ; Wilson, Wyndham H. ; Colomer, Dolors ; López-Guillermo, Armando ; López-Otín, Carlos ; Puente, Xose S. ; Campo, Elías

Proceedings of the National Academy of Sciences - PNAS, 2013-11, Vol.110 (45), p.18250-18255 [Periódico revisado por pares]

United States: National Academy of Sciences

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6
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
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Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Zhang, Michael Y ; Churpek, Jane E ; Keel, Siobán B ; Walsh, Tom ; Lee, Ming K ; Loeb, Keith R ; Gulsuner, Suleyman ; Pritchard, Colin C ; Sanchez-Bonilla, Marilyn ; Delrow, Jeffrey J ; Basom, Ryan S ; Forouhar, Melissa ; Gyurkocza, Boglarka ; Schwartz, Bradford S ; Neistadt, Barbara ; Marquez, Rafael ; Mariani, Christopher J ; Coats, Scott A ; Hofmann, Inga ; Lindsley, R Coleman ; Williams, David A ; Abkowitz, Janis L ; Horwitz, Marshall S ; King, Mary-Claire ; Godley, Lucy A ; Shimamura, Akiko

Nature genetics, 2015-02, Vol.47 (2), p.180-185 [Periódico revisado por pares]

United States: Nature Publishing Group

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7
Oncogenically active MYD88 mutations in human lymphoma
Oncogenically active MYD88 mutations in human lymphoma
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Oncogenically active MYD88 mutations in human lymphoma

NGO, Vu N ; YOUNG, Ryan M ; SHAFFER, Arthur L ; ROMESSER, Paul ; WRIGHT, George ; POWELL, John ; ROSENWALD, Andreas ; MULLER-HERMELINK, Hans Konrad ; OTT, German ; GASCOYNE, Randy D ; CONNORS, Joseph M ; RIMSZA, Lisa M ; SCHMITZ, Roland ; CAMPO, Elias ; JAFFE, Elaine S ; DELABIE, Jan ; SMELAND, Erlend B ; FISHER, Richard I ; BRAZIEL, Rita M ; TUBBS, Raymond R ; COOK, J. R ; WEISENBURGER, Denny D ; CHAN, Wing C ; JHAVAR, Sameer ; STAUDT, Louis M ; WENMING XIAO ; LIM, Kian-Huat ; KOHLHAMMER, Holger ; WEIHONG XU ; YANDAN YANG ; HONG ZHAO

Nature (London), 2011-02, Vol.470 (7332), p.115-119 [Periódico revisado por pares]

London: Nature Publishing Group

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8
Heritable and precise zebrafish genome editing using a CRISPR-Cas system
Heritable and precise zebrafish genome editing using a CRISPR-Cas system
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Heritable and precise zebrafish genome editing using a CRISPR-Cas system

Hwang, Woong Y ; Fu, Yanfang ; Reyon, Deepak ; Maeder, Morgan L ; Kaini, Prakriti ; Sander, Jeffry D ; Joung, J Keith ; Peterson, Randall T ; Yeh, Jing-Ruey Joanna Xu, Xiaolei

PloS one, 2013-07, Vol.8 (7), p.e68708 [Periódico revisado por pares]

United States: Public Library of Science

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9
Mutation effects predicted from sequence co-variation
Mutation effects predicted from sequence co-variation
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Mutation effects predicted from sequence co-variation

Hopf, Thomas A ; Ingraham, John B ; Poelwijk, Frank J ; Schärfe, Charlotta P I ; Springer, Michael ; Sander, Chris ; Marks, Debora S

Nature biotechnology, 2017-02, Vol.35 (2), p.128-135 [Periódico revisado por pares]

United States: Nature Publishing Group

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10
TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism
TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism
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TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism

Rachakonda, P. Sivaramakrishna ; Hosen, Ismail ; de Verdier, Petra J. ; Fallah, Mahdi ; Heidenreich, Barbara ; Ryk, Charlotta ; Wiklund, N. Peter ; Steineck, Gunnar ; Schadendorf, Dirk ; Hemminki, Kari ; Kumar, Rajiv

Proceedings of the National Academy of Sciences - PNAS, 2013-10, Vol.110 (43), p.17426-17431 [Periódico revisado por pares]

United States: National Academy of Sciences

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Deste Autor:

  1. Ferraz de Souza, B

Neste Assunto:

  1. Molecular Sequence Data
  2. Molecular Sequence Data
  3. Science & Technology
  4. Life Sciences & Biomedicine
  5. Mutation

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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