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1دورية أكاديمية
المؤلفون: Palmero, Edenir I., Galvão, Henrique C.R., Fernandes, Gabriela C., Paula, André E. de, Oliveira, Junea C., Souza, Cristiano P., Andrade, Carlos E., Romagnolo, Luis G.C., Volc, Sahlua, C. Neto, Maximiliano, Sabato, Cristina, Grasel, Rebeca, Mauad, Edmundo, Reis, Rui M., Michelli, Rodrigo A.D.
المصدر: Genetics and Molecular Biology. June 2016 39(2)
مصطلحات موضوعية: oncogenetics, hereditary cancer, public health
وصف الملف: text/html
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2دورية أكاديمية
المؤلفون: Palmero, Edenir I., Caleffi, Maira, Schüler-Faccini, Lavínia, Roth, Fernanda L., Kalakun, Luciane, Netto, Cristina Brinkmann Oliveira, Skonieski, Giovana, Giacomazzi, Juliana, Weber, Bernadete, Giugliani, Roberto, Camey, Suzi A., Ashton-Prolla, Patricia
المصدر: Genetics and Molecular Biology. January 2009 32(3)
مصطلحات موضوعية: breast cancer, genetic counseling, hereditary cancer syndromes
وصف الملف: text/html
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3دورية أكاديمية
المؤلفون: Friebel, Tara M, Andrulis, Irene L, Balmaña, Judith, Blanco, Amie M, Couch, Fergus J, Daly, Mary B, Domchek, Susan M, Easton, Douglas F, Foulkes, William D, Ganz, Patricia A, Garber, Judy, Glendon, Gord, Greene, Mark H, Hulick, Peter J, Isaacs, Claudine, Jankowitz, Rachel C, Karlan, Beth Y, Kirk, Judy, Kwong, Ava, Lee, Annette, Lesueur, Fabienne, Lu, Karen H, Nathanson, Katherine L, Neuhausen, Susan L, Offit, Kenneth, Palmero, Edenir I, Sharma, Priyanka, Tischkowitz, Marc, Toland, Amanda E, Tung, Nadine, van Rensburg, Elizabeth J, Vega, Ana, Weitzel, Jeffrey N, Collaborators, GEMO Study, Hoskins, Kent F, Maga, Tara, Parsons, Michael T, McGuffog, Lesley, Antoniou, Antonis C, Chenevix‐Trench, Georgia, Huo, Dezheng, Olopade, Olufunmilayo I, Rebbeck, Timothy R
المصدر: Human Mutation. 40(10)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Breast Cancer, Cancer, Alleles, BRCA1 Protein, BRCA2 Protein, Black People, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Humans, Mutation, Population Surveillance, African ancestry, BRCA1, BRCA2, mutation, pathogenic sequence variant, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/662788ncTest
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4دورية أكاديمية
المؤلفون: Li, Hongyan, Engel, Christoph, de la Hoya, Miguel, Peterlongo, Paolo, Yannoukakos, Drakoulis, Livraghi, Luca, Radice, Paolo, Thomassen, Mads, Hansen, Thomas V.O., Gerdes, Anne Marie, Nielsen, Henriette R., Caputo, Sandrine M., Zambelli, Alberto, Borg, Ake, Solano, Angela, Thomas, Abigail, Parsons, Michael T., Antoniou, Antonis C., Leslie, Goska, Yang, Xin, Chenevix-Trench, Georgia, Caldes, Trinidad, Kwong, Ava, Pedersen, Inge Søkilde, Lautrup, Charlotte K., John, Esther M., Terry, Mary Beth, Hopper, John L., Southey, Melissa C., Andrulis, Irene L., Tischkowitz, Marc, Janavicius, Ramunas, Boonen, Susanne E., Kroeldrup, Lone, Varesco, Liliana, Hamann, Ute, Vega, Ana, Palmero, Edenir I., Garber, Judy, Montagna, Marco, Van Asperen, Christi J., Foretova, Lenka, Greene, Mark H., Selkirk, Tina, Moller, Pal, Toland, Amanda E., Domchek, Susan M., James, Paul A., Thorne, Heather, Eccles, Diana M., Goldgar, David E.
وصف الملف: text
العلاقة: https://eprints.soton.ac.uk/454437/1/GIM_2021_Li_Goldgar.pdfTest; Li, Hongyan, Engel, Christoph, de la Hoya, Miguel, Peterlongo, Paolo, Yannoukakos, Drakoulis, Livraghi, Luca, Eccles, Diana M. and Goldgar, David E. , ENIGMA Consortium and CIMBA Consortium (2022) Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. Genetics in Medicine, 24 (1), 119-129. (doi:10.1016/j.gim.2021.08.016 ).
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5دورية أكاديمية
المؤلفون: Solano, Ángela R., Palmero, Edenir I., Delgado, Lucía, Carraro, Dirce M., Ortíz López, Rocío, Carranza, Claudia L., Santamaría, Carlos, Cifuentes, Laura, Jara Sosa, Lilian, Toland, Amanda E.
المصدر: NPJ Genomic Medicine
مصطلحات موضوعية: Prevalence, Mutations, Breast
وصف الملف: application/pdf
العلاقة: NPJ Genomic Medicine (2020) 5:22; https://repositorio.uchile.cl/handle/2250/175744Test
الإتاحة: https://doi.org/10.1038/s41525-020-0126-3Test
https://repositorio.uchile.cl/handle/2250/175744Test -
6دورية أكاديمية
المؤلفون: Pinto, Emilia M., Figueiredo, Bonald C., Chen, Wenan, Galvao, Henrique C.R., Formiga, Maria Nirvana, Fragoso, Maria Candida B.V., Ashton-Prolla, Patricia, Ribeiro, Enilze M.S.F., Felix, Gabriela, Costa, Tatiana E.B., Savage, Sharon A., Yeager, Meredith, Palmero, Edenir I., Volc, Sahlua, Salvador, Hector, Fuster-Soler, Jose Luis, Lavarino, Cinzia, Chantada, Guillermo, Vaur, Dominique, Odone-Filho, Vicente, Brugières, Laurence, Else, Tobias, Stoffel, Elena M., Maxwell, Kara N., Achatz, Maria Isabel, Kowalski, Luis, de Andrade, Kelvin C., Pappo, Alberto, Letouze, Eric, Latronico, Ana Claudia, Mendonca, Berenice B., Almeida, Madson Q., Brondani, Vania B., Bittar, Camila M., Soares, Emerson W.S., Mathias, Carolina, Ramos, Cintia R.N., Machado, Moara, Zhou, Weiyin, Jones, Kristine, Vogt, Aurelie, Klincha, Payal P., Santiago, Karina M., Komechen, Heloisa, Paraizo, Mariana M., Parise, Ivy Z.S., Hamilton, Kayla V., Wang, Jinling, Rampersaud, Evadnie, Clay, Michael R.
المساهمون: American Lebanese Syrian Associated Charities - ALSAC
المصدر: Science Advances ; volume 6, issue 26 ; ISSN 2375-2548
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7دورية أكاديمية
المؤلفون: Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lidia, Aalfs, Cora M., Agata, Simona, Aittomäki, Kristiina, Alducci, Elisa, Alonso-Cerezo, María Concepción, Arnold, Norbert, Auber, Bernd, Austin, Rachel, Azzollini, Jacopo, Balmaña, Judith, Barbieri, Elena, Bartram, Claus R., Blanco, Ana, Blümcke, Britta, Bonache, Sandra, Bonanni, Bernardo, Borg, Åke, Bortesi, Beatrice, Brunet, Joan, Bruzzone, Carla, Bucksch, Karolin, Cagnoli, Giulia, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Capone, Gabriele L., Caputo, Sandrine M., Carnevali, Ileana, Carrasco, Estela, Caux-Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia, Clarke, Edward M., Concolino, Paola, Cops, Elisa J., Cortesi, Laura, Couch, Fergus J., Darder, Esther, de la Hoya, Miguel, Dean, Michael, Debatin, Irmgard, del Valle, Jesús, Delnatte, Capucine, Derive, Nicolas, Diez, Orland, Ditsch, Nina, Domchek, Susan M., Dutrannoy, Véronique, Eccles, Diana M., Ehrencrona, Hans, Enders, Ute, Evans, D. Gareth, Faust, Ulrike, Felbor, Ute, Feroce, Irene, Fine, Miriam, Galvao, Henrique C. R., Gambino, Gaetana, Gehrig, Andrea, Gensini, Francesca, Gerdes, Anne-Marie, Germani, Aldo, Giesecke, Jutta, Gismondi, Viviana, Gómez, Carolina, Gómez Garcia, Encarna B., González, Sara, Grau, Elia, Grill, Sabine, Gross, Eva, Guerrieri-Gonzaga, Aliana, Guillaud-Bataille, Marine, Gutiérrez-Enríquez, Sara, Haaf, Thomas, Hackmann, Karl, Hansen, Thomas V. O., Harris, Marion, Hauke, Jan, Heinrich, Tilman, Hellebrand, Heide, Herold, Karen N., Honisch, Ellen, Horvath, Judit, Houdayer, Claude, Hübbel, Verena, Iglesias, Silvia, Izquierdo, Angel, James, Paul A., Janssen, Linda A. M., Jeschke, Udo, Kaulfuß, Silke, Keupp, Katharina, Kiechle, Marion, Kölbl, Alexandra, Krieger, Sophie, Kruse, Torben A., Kvist, Anders, Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa L., Lautrup, Charlotte, Ledig, Susanne, Leinert, Elena, Lewis, Alexandra L., Lim, Joanna, Loeffler, Markus, López-Fernández, Adrià, Lucci-Cordisco, Emanuela, Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica, Matricardi, Laura, Meindl, Alfons, Michelli, Rodrigo D., Moghadasi, Setareh, Moles-Fernández, Alejandro, Montagna, Marco, Montalban, Gemma, Monteiro, Alvaro N., Montes, Eva, Mori, Luigi, Moserle, Lidia, Müller, Clemens R., Mundhenke, Christoph, Naldi, Nadia, Nathanson, Katherine L., Navarro, Matilde, Nevanlinna, Heli, Nichols, Cassandra B., Niederacher, Dieter, Nielsen, Henriette R., Ong, Kai-ren, Pachter, Nicholas, Palmero, Edenir I., Papi, Laura, Pedersen, Inge Sokilde, Peissel, Bernard, Pérez-Segura, Pedro, Pfeifer, Katharina, Pineda, Marta, Pohl-Rescigno, Esther, Poplawski, Nicola K., Porfirio, Berardino, Quante, Anne S., Ramser, Juliane, Reis, Rui M., Revillion, Françoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela, Rofes, Paula, Rump, Andreas, Salinas, Monica, Sánchez de Abajo, Ana María, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiß, Jochen, Solanes, Ares, Steinemann, Doris, Stiller, Mathias, Stoppa-Lyonnet, Dominique, Sullivan, Kelly J., Susman, Rachel, Sutter, Christian, Tavtigian, Sean V., Teo, Soo H., Teulé, Alex, Thomassen, Mads, Tibiletti, Maria Grazia, Tognazzo, Silvia, Toland, Amanda E., Tornero, Eva, Törngren, Therese, Torres-Esquius, Sara, Toss, Angela, Trainer, Alison H., van Asperen, Christi J., van Mackelenbergh, Marion T., Varesco, Liliana, Vargas-Parra, Gardenia, Varon, Raymonda, Vega, Ana, Velasco, Ángela, Vesper, Anne-Sophie, Viel, Alessandra, Vreeswijk, Maaike P. G., Wagner, Sebastian A., Waha, Anke, Walker, Logan C., Walters, Rhiannon J., Wang-Gohrke, Shan, Weber, Bernhard H. F., Weichert, Wilko, Wieland, Kerstin, Wiesmüller, Lisa, Witzel, Isabell, Wöckel, Achim, Woodward, Emma R., Zachariae, Silke, Zampiga, Valentina, Zeder-Göß, Christine, Lázaro, Conxi, De Nicolo, Arcangela, Radice, Paolo, Engel, Christoph, Schmutzler, Rita K., Goldgar, David E., Spurdle, Amanda B.
المساهمون: Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lidia, Aalfs, Cora M., Agata, Simona, Aittomäki, Kristiina, Alducci, Elisa, Alonso-Cerezo, María Concepción, Arnold, Norbert, Auber, Bernd, Austin, Rachel, Azzollini, Jacopo, Balmaña, Judith, Barbieri, Elena, Bartram, Claus R., Blanco, Ana, Blümcke, Britta, Bonache, Sandra, Bonanni, Bernardo, Borg, Åke, Bortesi, Beatrice, Brunet, Joan, Bruzzone, Carla, Bucksch, Karolin, Cagnoli, Giulia, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Capone, Gabriele L., Caputo, Sandrine M., Carnevali, Ileana, Carrasco, Estela, Caux-Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia, Clarke, Edward M., Concolino, Paola, Cops, Elisa J., Cortesi, Laura, Couch, Fergus J., Darder, Esther, de la Hoya, Miguel, Dean, Michael, Debatin, Irmgard, del Valle, Jesú, Delnatte, Capucine, Derive, Nicola, Diez, Orland, Ditsch, Nina, Domchek, Susan M., Dutrannoy, Véronique, Eccles, Diana M., Ehrencrona, Han, Enders, Ute, Evans, D. Gareth, Faust, Ulrike, Felbor, Ute, Feroce, Irene, Fine, Miriam, Galvao, Henrique C. R., Gambino, Gaetana, Gehrig, Andrea, Gensini, Francesca, Gerdes, Anne-Marie, Germani, Aldo, Giesecke, Jutta, Gismondi, Viviana, Gómez, Carolina, Gómez Garcia, Encarna B., González, Sara, Grau, Elia, Grill, Sabine, Gross, Eva, Guerrieri-Gonzaga, Aliana, Guillaud-Bataille, Marine, Gutiérrez-Enríquez, Sara, Haaf, Thoma, Hackmann, Karl, Hansen, Thomas V. O., Harris, Marion, Hauke, Jan, Heinrich, Tilman, Hellebrand, Heide, Herold, Karen N., Honisch, Ellen, Horvath, Judit, Houdayer, Claude, Hübbel, Verena, Iglesias, Silvia, Izquierdo, Angel, James, Paul A., Janssen, Linda A. M., Jeschke, Udo, Kaulfuß, Silke, Keupp, Katharina, Kiechle, Marion
مصطلحات موضوعية: BRCA1, BRCA2, classification, clinical, multifactorial, quantitative, uncertain significance, variant
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31131967; info:eu-repo/semantics/altIdentifier/wos/WOS:000485994200033; volume:40; issue:9; firstpage:1557; lastpage:1578; numberofpages:22; journal:HUMAN MUTATION; http://hdl.handle.net/11380/1179823Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072233740
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8دورية أكاديمية
المؤلفون: de Oliveira, Junea C., Viana, Danilo V., Zanardo, Cleyton, Santos, Erika M. M., de Paula, André E., Palmero, Edenir I., Rossi, Benedito M.
المساهمون: Financiadora de Estudos e Projetos
المصدر: Cancer Medicine ; volume 8, issue 5, page 2114-2122 ; ISSN 2045-7634 2045-7634
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9دورية أكاديميةGenotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study
المؤلفون: Maciel, Rui M B, Camacho, Cleber P, Assumpção, Lígia V M, Bufalo, Natassia E, Carvalho, André L, de Carvalho, Gisah A, Castroneves, Luciana A, de Castro, Francisco M, Ceolin, Lucieli, Cerutti, Janete M, Corbo, Rossana, Ferraz, Tânia M B L, Ferreira, Carla V, França, M Inez C, Galvão, Henrique C R, Germano-Neto, Fausto, Graf, Hans, Jorge, Alexander A L, Kunii, Ilda S, Lauria, Márcio W, Leal, Vera L G, Lindsey, Susan C, Lourenço, Delmar M, Maciel, Léa M Z, Magalhães, Patrícia K R, Martins, João R M, Martins-Costa, M Cecília, Mazeto, Gláucia M F S, Impellizzeri, Anelise I, Nogueira, Célia R, Palmero, Edenir I, Pessoa, Cencita H C N, Prada, Bibiana, Siqueira, Débora R, Sousa, Maria Sharmila A, Toledo, Rodrigo A, Valente, Flávia O F, Vaisman, Fernanda, Ward, Laura S, Weber, Shana S, Weiss, Rita V, Yang, Ji H, Dias-da-Silva, Magnus R, Hoff, Ana O, Toledo, Sergio P A, Maia, Ana L
المصدر: Endocrine Connections ; volume 8, issue 3, page 289-298 ; ISSN 2049-3614
الإتاحة: https://doi.org/10.1530/ec-18-0506Test
https://ec.bioscientifica.com/view/journals/ec/8/3/EC-18-0506.xmlTest
https://ec.bioscientifica.com/downloadpdf/journals/ec/8/3/EC-18-0506.xmlTest -
10دورية أكاديمية
المؤلفون: Torrezan, Giovana T., Almeida, Fernanda G. dos Santos R. de, Figueiredo, Márcia C. P., Barros, Bruna D. de Figueiredo, Paula, Cláudia A. A. de, Valieris, Renan, Souza, Jorge E. S. de, Ramalho, Rodrigo F., Silva, Felipe C. C. da, Ferreira, Elisa N., Nóbrega, Amanda F. de, Felicio, Paula S., Achatz, Maria I., Souza, Sandro José de, Palmero, Edenir I., Carraro, Dirce M.
مصطلحات موضوعية: cancer predisposition genes, hereditary breast cancer, whole-exome sequencing, germline pathogenic variants, cancer susceptibility, DNA repair genes
وصف الملف: application/pdf
العلاقة: TORREZAN, G.T. Complex landscape of germline variants in brazilian patients with hereditary and early onset breast cancer. Front. Genet., v.9, n.161, maio/2018.; https://doi.org/10.3389/fgene.2018.00161Test; https://repositorio.ufrn.br/jspui/handle/123456789/25458Test
الإتاحة: https://doi.org/10.3389/fgene.2018.00161Test
https://repositorio.ufrn.br/jspui/handle/123456789/25458Test