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Methods in molecular biology (Clifton, N.J.), ISSN 1064-3745, 2014, Volume 1168, pp. 263 - 273
In this chapter we aim to provide an overview of DNA variant databases, commonly known as Locus-Specific Databases (LSDBs), or Gene-Disease Specific Databases... 
Variant database | Phenotype | Disease | Gene | Ontology | Standards | Genetic Variation | Databases, Genetic | Software | Databases, Nucleic Acid | Humans | Computational Biology
Journal Article
by Thompson, Bryony A and Spurdle, Amanda B and Plazzer, John-Paul and Greenblatt, Marc S and Akagi, Kiwamu and Al-Mulla, Fahd and Bapat, Bharati and Bernstein, Inge and Capellá, Gabriel and den Dunnen, Johan T and du Sart, Desiree and Fabre, Aurelie and Farrell, Michael P and Farrington, Susan M and Frayling, Ian M and Frebourg, Thierry and Goldgar, David E and Heinen, Christopher D and Holinski-Feder, Elke and Kohonen-Corish, Maija and Robinson, Kristina Lagerstedt and Leung, Suet Yi and Martins, Alexana and Moller, Pal and Morak, Monika and Nystrom, Minna and Peltomaki, Paivi and Pineda, Marta and Qi, Ming and Ramesar, Rajkumar and Rasmussen, Lene Juel and Royer-Pokora, Brigitte and Scott, Rodney J and Sijmons, Rolf and Tavtigian, Sean V and Tops, Carli M and Weber, Thomas and Wijnen, Juul and Woods, Michael O and Macrae, Finlay and Genuardi, Maurizio and Castillejo, Adela and Sexton, Aienne and Chan, Anthony K. W and Viel, Alessana and Blanco, Amie and French, Amy and Laner, Aneas and Wagner, Anja and van den Ouweland, Ans and Mensenkamp, Arjen and Payá, Artemio and Betz, Beate and Redeker, Bert and Smith, Betsy and Espenschied, Carin and Cummings, Carole and Engel, Christoph and Fornes, Claudia and Valenzuela, Cristian and Alenda, Cristina and Buchanan, Daniel and Barana, Daniela and Konstantinova, Darina and Cairns, Dianne and Glaser, Elizabeth and Silva, Felipe and Lalloo, Fiona and Crucianelli, Francesca and Hogervorst, Frans and Casey, Graham and Tomlinson, Ian and Blanco, Ignacio and Villar, Isabel López and Garcia-Planells, Javier and Bigler, Jeanette and Shia, Jinru and Martinez-Lopez, Joaquin and Gille, Johan J. P and Hopper, John and Potter, John and Soto, José Luis and Kantelinen, Jukka and Ellis, Kate and Mann, Kirsty and Varesco, Liliana and Zhang, Liying and Le Marchand, Loic and Marafie, Makia J and Nordling, Margareta and Tibiletti, Maria Grazia and Kahan, Mariano Ariel and Ligtenberg, Marjolijn and Clendenning, Mark and Jenkins, Mark and Speevak, Marsha and Digweed, Martin and Kloor, Matthias and Hitchins, Megan and Myers, Megan and ... and InSiGHT and on behalf of InSiGHT and Sahlgrenska akademin and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 2, pp. 107 - 115
Journal Article
Gut, ISSN 0017-5749, 03/2017, Volume 66, Issue 3, pp. 464 - 472
Journal Article
Gut, ISSN 0017-5749, 07/2018, Volume 67, Issue 7, pp. 1306 - 1316
Journal Article
Gut, ISSN 0017-5749, 09/2017, Volume 66, Issue 9, pp. 1657 - 1664
Journal Article
by Vaccaro, Carlos Alberto and López‐Kostner, Francisco and Adriana, Della Valle and Palmero, Edenir Inez and Rossi, Benedito Mauro and Antelo, Marina and Solano, Angela and Carraro, Dirce Maria and Forones, Nora Manoukian and Bohorquez, Mabel and Lino‐Silva, Leonardo S and Buleje, Jose and Spirandelli, Florencia and Abe‐Sandes, Kiyoko and Nascimento, Ivana and Sullcahuaman, Yasser and Sarroca, Carlos and Gonzalez, Maria Laura and Herrando, Alberto Ignacio and Alvarez, Karin and Neffa, Florencia and Galvão, Henrique Camposreis and Esperon, Patricia and Golubicki, Mariano and Cisterna, Daniel and Cardoso, Florencia C and Torrezan, Giovana Tardin and Junior, Samuel Aguiar and Pimenta, Célia Aparecida Marques and Cruz Formiga, Maria Nirvana and Santos, Erika and Sá, Caroline U and Oliveira, Edite P and Fujita, Ricardo and Spirandelli, Enrique and Jimenez, Geiner and Guindalini, Rodrigo Santa Cruz and Azevedo, Renata Gondim Meira Velame and Bueno, Larissa Souza Mario and Santos Nogueira, Sonia Tereza and Loarte, Mariela Torres and Padron, Jorge and Carmen Castro‐Mujica, Maria and Monte, Julio Sanchez and Caballero, Carmelo and Peña, Carlos Mario Muñeton and Pinto, Joseph and Barletta‐Carrillo, Claudia and Melva, Gutiérrez Angulo and Piñero, Tamara and Beltran, Paola Montenegro and Ashton‐Prolla, Patricia and Rodriguez, Yenni and Quispe, Richard and Rossi, Norma Teresa and Martin, Claudia and Chialina, Sergio and Kalfayan, Pablo German and Bazo‐Alvarez, Juan Carlos and Cañete, Alcides Recalde and Dominguez‐Barrera, Constantino and Nuñez, Lina and Da Silva, Sabrina Daniela and Balavarca, Yesilda and Wernhoff, Patrik and Plazzer, John‐Paul and Møller, Pål and Hovig, Eivind and Dominguez‐Valentin, Mev and GETH and in collaboration with GETH
International Journal of Cancer, ISSN 0020-7136, 07/2019, Volume 145, Issue 2, pp. 318 - 326
Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and... 
hereditary | colorectal cancer | lynch syndrome | Latin America | BREAST-CANCER | HEREDITARY CANCER | ONCOLOGY | MICROSATELLITE INSTABILITY | MUTATIONS | POLYMORPHISM | PREVALENCE | MLH1 | Genetic research | Research | Oncology, Experimental | Colorectal cancer | Cancer | MSH6 protein | MLH1 protein | Colorectal carcinoma | MSH2 protein | Genetic screening | Mini Review
Journal Article
BMC Research Notes, ISSN 1756-0500, 02/2016, Volume 9, Issue 1, p. 125
Databases for gene variants are very useful for sharing genetic data and to facilitate the understanding of the genetic basis of diseases. This report... 
Variant database | Sharing genetic data | Variation nomenclature | Genetic Variation | Asian Continental Ancestry Group | Databases, Genetic - standards | Information Dissemination - ethics | Humans | Female | Male | Malaysia | Genome, Human | Databases, Genetic - ethics
Journal Article
Database, ISSN 1758-0463, 2013, Volume 2013, pp. bat019 - bat019
This article introduces the Variome Annotation Schema, a schema that aims to capture the core concepts and relations relevant to cataloguing and interpreting... 
SYSTEM | LYNCH-SYNDROME | DISEASE | MATHEMATICAL & COMPUTATIONAL BIOLOGY | VALIDATION | CLASSIFICATION | TEXT | AUTOMATED EXTRACTION | MUTATION DATABASES | CANCER | SENTENCES | Genetic Variation | Disease - genetics | Publications | Semantics | Humans | Databases, Genetic | Statistics as Topic | Data Mining - methods
Journal Article
by Della Valle, Adriana and Rossi, Benedito Mauro and Rossi, Norma Teresa and Palmero, Edenir Inêz and Antelo, Marina and Vaccaro, Carlos Alberto and López-Kostner, Francisco and Alvarez, Karin and Cruz-Correa, Marcia and Bruno, Luisina Inés and Forones, Nora Manoukian and Mindiola, Jorge Andres Rugeles and Buleje, José and Spirandelli, Florencia and Spirandelli, Enrique and Bohorquez, Mabel and Cock-Rada, Alicia Maria and Sullcahuaman, Yasser and Nascimento, Ivana and Abe-Sandes, Kiyoko and Lino-Silva, Leonardo S and Petracchi, Florencia and Mampel, Alejandra and Rodriguez, Yeni and Yañez, Claudio Benavides and Rubio, Cladelis and Petta-Lajus, Tirzah Braz and Silveira-Lucas, Elizabeth Lemos and Jiménez, Geiner and Peña, Carlos Mario Muñeton and Reyes-Silva, Carlos and Ayala-Madrigal, María de la Luz and del Monte, Julio Sánchez and Quispe, Richard and Recalde, Alcides and Neffa, Florencia and Sarroca, Carlos and de Campos Reis Galvão, Henrique and Golubicki, Mariano and Piñero, Tamara A and Kalfayan, Pablo G and Ferro, Fabiana Alejandra and Gonzalez, Maria Laura and Pérez-Mayoral, Julyann and Pimenta, Celia Aparecida Marques and Uyaban, Sandra Patricia Bello and Protzel, Ana and Chávez, Guiliana and Dueñas, Milagros and Gil, María Luisa Guevara and Chialina, Sergio and Echeverry, Magdalena and Fuenmayor, Luis José Palacios and Torres, Mariela and Palma, Thais F.Bonfim and Héritas, Nadia Cambados and Martin, Claudia and Suárez, Alfonso and Vallejo, Michael and Rafaela de Souza Timoteo, Ana and Ayala, Carlos Afanador and Jaramillo-Koupermann, Gabriela and Hernández-Sandoval, Jesús Arturo and Guerrero, Angélica Hernandez and Dominguez-Barrera, Constantino and Bazo-Alvarez, Juan Carlos and Wernhoff, Patrik and Plazzer, John-Paul and Balavarca, Yesilda and Hovig, Eivind and Møller, Pål and Dominguez-Valentin, Mev and Collaboration LA-GETH and collaboration with LA-GETH
European Journal of Cancer, ISSN 0959-8049, 09/2019, Volume 119, pp. 112 - 121
We aimed to assess the current genetics practice to manage patients with Lynch syndrome (LS) across Latin America. A Latin American LS survey was sent out to... 
Genetic testing | Lynch syndrome | Latin America | ONCOLOGY | CANCER
Journal Article