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Material Type: Artigo
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Síndrome de microdeleção 2q32 em paciente da Amazônia ocidental; 2q32 microdeletion syndrome in a patient from the western AmazonOliveira, Wilyan Dias Cosmo; Silva, Christian Rogers Gomes Da; Andrade, Christopher Harrison Salomão; Borges, Edilson Moreira; Sá, Gabriele Batista De; Rocha, Joshua Werner Bicalho DaMedicina (Ribeirao Preto); Vol. 56 No. 2 (2023); e-194793Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto 2023-08-15Acesso online |
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Material Type: Livro
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Molecular genetics of chromosome 21 and Down syndrome proceedings of the Sixth Annual National Down Syndrome Society Symposium, held in New York, New York, December 7-8, 1989National Down Syndrome Society (U.S.) Symposium New York, N.Y.) 1989 David Patterson 1944-; Charles J EpsteinNew York Wiley-Liss c1990Localização: FOB - Fac. Odontologia de Bauru (616.042 M732 )(Acessar) |
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Material Type: Artigo
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Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome ActivationZhong, Franklin L. ; Mamaï, Ons ; Sborgi, Lorenzo ; Boussofara, Lobna ; Hopkins, Richard ; Robinson, Kim ; Szeverényi, Ildikó ; Takeichi, Takuya ; Balaji, Reshmaa ; Lau, Aristotle ; Tye, Hazel ; Roy, Keya ; Bonnard, Carine ; Ahl, Patricia J. ; Jones, Leigh Ann ; Baker, Paul J. ; Lacina, Lukas ; Otsuka, Atsushi ; Fournie, Pierre R. ; Malecaze, François ; Lane, E. Birgitte ; Akiyama, Masashi ; Kabashima, Kenji ; Connolly, John E. ; Masters, Seth L. ; Soler, Vincent J. ; Omar, Salma Samir ; McGrath, John A. ; Nedelcu, Roxana ; Gribaa, Moez ; Denguezli, Mohamed ; Saad, Ali ; Hiller, Sebastian ; Reversade, BrunoCell, 2016-09, Vol.167 (1), p.187-202.e17 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancerChilds, Erica J ; Mocci, Evelina ; Campa, Daniele ; Bracci, Paige M ; Gallinger, Steven ; Goggins, Michael ; Li, Donghui ; Neale, Rachel E ; Olson, Sara H ; Scelo, Ghislaine ; Amundadottir, Laufey T ; Bamlet, William R ; Bijlsma, Maarten F ; Blackford, Amanda ; Borges, Michael ; Brennan, Paul ; Brenner, Hermann ; Bueno-de-Mesquita, H Bas ; Canzian, Federico ; Capurso, Gabriele ; Cavestro, Giulia M ; Chaffee, Kari G ; Chanock, Stephen J ; Cleary, Sean P ; Cotterchio, Michelle ; Foretova, Lenka ; Fuchs, Charles ; Funel, Niccola ; Gazouli, Maria ; Hassan, Manal ; Herman, Joseph M ; Holcatova, Ivana ; Holly, Elizabeth A ; Hoover, Robert N ; Hung, Rayjean J ; Janout, Vladimir ; Key, Timothy J ; Kupcinskas, Juozas ; Kurtz, Robert C ; Landi, Stefano ; Lu, Lingeng ; Malecka-Panas, Ewa ; Mambrini, Andrea ; Mohelnikova-Duchonova, Beatrice ; Neoptolemos, John P ; Oberg, Ann L ; Orlow, Irene ; Pasquali, Claudio ; Pezzilli, Raffaele ; Rizzato, Cosmeri ; Saldia, Amethyst ; Scarpa, Aldo ; Stolzenberg-Solomon, Rachael Z ; Strobel, Oliver ; Tavano, Francesca ; Vashist, Yogesh K ; Vodicka, Pavel ; Wolpin, Brian M ; Yu, Herbert ; Petersen, Gloria M ; Risch, Harvey A ; Klein, Alison PNature genetics, 2015-08, Vol.47 (8), p.911-916 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Circos: an information aesthetic for comparative genomicsKrzywinski, Martin ; Schein, Jacqueline ; Birol, Inanç ; Connors, Joseph ; Gascoyne, Randy ; Horsman, Doug ; Jones, Steven J ; Marra, Marco AGenome Research, 2009-09, Vol.19 (9), p.1639-1645 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |
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Material Type: Artigo
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A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13Leslie, Elizabeth J ; Carlson, Jenna C ; Shaffer, John R ; Feingold, Eleanor ; Wehby, George ; Laurie, Cecelia A ; Jain, Deepti ; Laurie, Cathy C ; Doheny, Kimberly F ; McHenry, Toby ; Resick, Judith ; Sanchez, Carla ; Jacobs, Jennifer ; Emanuele, Beth ; Vieira, Alexandre R ; Neiswanger, Katherine ; Lidral, Andrew C ; Valencia-Ramirez, Luz Consuelo ; Lopez-Palacio, Ana Maria ; Valencia, Dora Rivera ; Arcos-Burgos, Mauricio ; Czeizel, Andrew E ; Field, L Leigh ; Padilla, Carmencita D ; Cutiongco-de la Paz, Eva Maria C ; Deleyiannis, Frederic ; Christensen, Kaare ; Munger, Ronald G ; Lie, Rolv T ; Wilcox, Allen ; Romitti, Paul A ; Castilla, Eduardo E ; Mereb, Juan C ; Poletta, Fernando A ; Orioli, Iêda M ; Carvalho, Flavia M ; Hecht, Jacqueline T ; Blanton, Susan H ; Buxó, Carmen J ; Butali, Azeez ; Mossey, Peter A ; Adeyemo, Wasiu L ; James, Olutayo ; Braimah, Ramat O ; Aregbesola, Babatunde S ; Eshete, Mekonen A ; Abate, Fikre ; Koruyucu, Mine ; Seymen, Figen ; Ma, Lian ; de Salamanca, Javier Enríquez ; Weinberg, Seth M ; Moreno, Lina ; Murray, Jeffrey C ; Marazita, Mary LHuman molecular genetics, 2016-07, Vol.25 (13), p.2862-2872 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Exploratory trial of a biepitopic CAR T-targeting B cell maturation antigen in relapsed/refractory multiple myelomaXu, Jie ; Chen, Li-Juan ; Yang, Shuang-Shuang ; Sun, Yan ; Wu, Wen ; Liu, Yuan-Fang ; Xu, Ji ; Zhuang, Yan ; Zhang, Wu ; Weng, Xiang-Qin ; Wu, Jing ; Wang, Yan ; Wang, Jin ; Yan, Hua ; Xu, Wen-Bin ; Jiang, Hua ; Du, Juan ; Ding, Xiao-Yi ; Li, Biao ; Li, Jun-Min ; Fu, Wei-Jun ; Zhu, Jiang ; Zhu, Li ; Chen, Zhu ; Fan, Xiao-Hu (Frank) ; Hou, Jian ; Li, Jian-Yong ; Mi, Jian-Qing ; Chen, Sai-JuanProceedings of the National Academy of Sciences - PNAS, 2019-05, Vol.116 (19), p.9543-9551 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populationsDaya, Michelle ; Rafaels, Nicholas ; Brunetti, Tonya M ; Chavan, Sameer ; Levin, Albert M ; Shetty, Aniket ; Gignoux, Christopher R ; Boorgula, Meher Preethi ; Wojcik, Genevieve ; Campbell, Monica ; Vergara, Candelaria ; Torgerson, Dara G ; Ortega, Victor E ; Doumatey, Ayo ; Johnston, Henry Richard ; Acevedo, Nathalie ; Araujo, Maria Ilma ; Avila, Pedro C ; Belbin, Gillian ; Bleecker, Eugene ; Bustamante, Carlos ; Caraballo, Luis ; Cruz, Alvaro ; Dunston, Georgia M ; Eng, Celeste ; Faruque, Mezbah U ; Ferguson, Trevor S ; Figueiredo, Camila ; Ford, Jean G ; Gan, Weiniu ; Gourraud, Pierre-Antoine ; Hansel, Nadia N ; Hernandez, Ryan D ; Herrera-Paz, Edwin Francisco ; Jiménez, Silvia ; Kenny, Eimear E ; Knight-Madden, Jennifer ; Kumar, Rajesh ; Lange, Leslie A ; Lange, Ethan M ; Lizee, Antoine ; Maul, Pissamai ; Maul, Trevor ; Mayorga, Alvaro ; Meyers, Deborah ; Nicolae, Dan L ; O'Connor, Timothy D ; Oliveira, Ricardo Riccio ; Olopade, Christopher O ; Olopade, Olufunmilayo ; Qin, Zhaohui S ; Rotimi, Charles ; Vince, Nicolas ; Watson, Harold ; Wilks, Rainford J ; Wilson, James G ; Salzberg, Steven ; Ober, Carole ; Burchard, Esteban G ; Williams, L Keoki ; Beaty, Terri H ; Taub, Margaret A ; Ruczinski, Ingo ; Mathias, Rasika A ; Barnes, Kathleen CNature communications, 2019-02, Vol.10 (1), p.880-880, Article 880 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetesBARRETT, Jeffrey C ; CLAYTON, David G ; PLAGNOL, Vincent ; POCIOT, Flemming ; SCHUILENBURG, Helen ; SMYTH, Deborah J ; STEVENS, Helen ; TODD, John A ; WALKER, Neil M ; RICH, Stephen S ; CONCANNON, Patrick ; AKOLKAR, Beena ; COOPER, Jason D ; ERLICH, Henry A ; JULIER, Cécile ; MORAHAN, Grant ; NERUP, Jørn ; NIERRAS, ConcepcionNature genetics, 2009-06, Vol.41 (6), p.703-707 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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PSORS2 Is Due to Mutations in CARD14Jordan, Catherine T. ; Cao, Li ; Roberson, Elisha D.O. ; Pierson, Katherine C. ; Yang, Chi-Fan ; Joyce, Cailin E. ; Ryan, Caitriona ; Duan, Shenghui ; Helms, Cynthia A. ; Liu, Yin ; Chen, Yongqing ; McBride, Alison A. ; Hwu, Wuh-Liang ; Wu, Jer-Yuarn ; Chen, Yuan-Tsong ; Menter, Alan ; Goldbach-Mansky, Raphaela ; Lowes, Michelle A. ; Bowcock, Anne M.American journal of human genetics, 2012-05, Vol.90 (5), p.784-795 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |