المؤلفون: Remacha, Laura, Pirman, David, Mahoney, Christopher E, Coloma, Javier, Calsina, Bruna, Currás-Freixes, Maria, Letón, Rocío, Torres-Pérez, Rafael, Richter, Susan, Pita, Guillermo, Herráez, Belén, Cianchetta, Giovanni, Honrado, Emiliano, Maestre, Lorena, Urioste, Miguel, Aller, Javier, García-Uriarte, Óscar, Gálvez, María Ángeles, Luque, Raúl M, Lahera, Marcos, Moreno-Rengel, Cristina, Eisenhofer, Graeme, Montero-Conde, Cristina, Rodríguez-Antona, Cristina, Llorca, Óscar, Smolen, Gromoslaw A, Robledo, Mercedes, Cascón, Alberto

مصطلحات موضوعية: DLST, TCA cycle, cancer susceptibility gene, paraganglioma, pheochromocytoma, Acyltransferases, Adrenal Gland Neoplasms, Adult, Basic Helix-Loop-Helix Transcription Factors, Carcinogenesis, Catalytic Domain, Citric Acid Cycle, DNA Methylation, Female, Gene Expression Profiling, Gene Expression Regulation, Genetic Predisposition to Disease, Germ-Line Mutation, High-Throughput Nucleotide Sequencing, Humans, Loss of Heterozygosity, Male, Middle Aged

العلاقة: http://hdl.handle.net/10668/13773Test; PMC6451733; http://www.cell.com/article/S000292971930062X/pdfTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451733/pdfTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.017Test
http://hdl.handle.net/10668/13773Test
http://www.cell.com/article/S000292971930062X/pdfTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451733/pdfTest

المؤلفون: Remacha, Laura, Currás-Freixes, Maria, Torres-Ruiz, Raúl, Schiavi, Francesca, Torres-Pérez, Rafael, Calsina, Bruna, Letón, Rocío, Comino-Méndez, Iñaki, Roldán-Romero, Juan M, Montero-Conde, Cristina, Santos, María, Pérez, Lucía Inglada, Pita, Guillermo, Alonso, María R, Honrado, Emiliano, Pedrinaci, Susana, Crespo-Facorro, Benedicto, Percesepe, Antonio, Falcioni, Maurizio, Rodríguez-Perales, Sandra, Korpershoek, Esther, Ramón-Maiques, Santiago, Opocher, Giuseppe, Rodríguez-Antona, Cristina, Robledo, Mercedes, Cascón, Alberto

مصطلحات موضوعية: CRISPR/Cas9 gene editing, DNMT3A, exome sequencing, hypermethylation, paraganglioma, Adrenal Gland Neoplasms, Adult, CRISPR-Cas Systems, DNA (Cytosine-5-)-Methyltransferases, DNA Methylation, DNA Methyltransferase 3A, Female, Gain of Function Mutation, Genetic Predisposition to Disease, Genotype, Germ-Line Mutation, Humans, Male, Pheochromocytoma

العلاقة: http://hdl.handle.net/10668/12435Test; https://www.nature.com/articles/s41436-018-0003-y.pdfTest

الإتاحة: https://doi.org/10.1038/s41436-018-0003-yTest
http://hdl.handle.net/10668/12435Test
https://www.nature.com/articles/s41436-018-0003-y.pdfTest

المؤلفون: Currás-Freixes, Maria, Piñeiro-Yañez, Elena, Montero-Conde, Cristina, Apellániz-Ruiz, María, Calsina, Bruna, Mancikova, Veronika, Remacha, Laura, Richter, Susan, Ercolino, Tonino, Rogowski-Lehmann, Natalie, Deutschbein, Timo, Calatayud, María, Guadalix, Sonsoles, Álvarez-Escolá, Cristina, Lamas, Cristina, Aller, Javier, Sastre-Marcos, Julia, Lázaro, Conxi, Galofré, Juan C., Patiño-García, Ana, Meoro-Avilés, Amparo, Balmaña-Gelpi, Judith, De Miguel-Novoa, Paz, Balbín, Milagros, Matías-Guiu, Xavier, Letón, Rocío, Inglada-Pérez, Lucía, Torres-Pérez, Rafael, Roldán-Romero, Juan M., Rodríguez-Antona, Cristina, Fliedner, Stephanie M J, Opocher, Giuseppe, Pacak, Karel, Korpershoek, Esther, de Krijger, Ronald R., Vroonen, Laurent, Mannelli, Massimo, Fassnacht, Martin, Beuschlein, Felix, Eisenhofer, Graeme, Cascón, Alberto, Al-Shahrour, Fátima, Robledo, Mercedes

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Molecular Diagnostics, 19(4), 575. Association of Molecular Pathology

مصطلحات موضوعية: Adult, Male, DNA Mutational Analysis, Adrenal Gland Neoplasms, Genetic Variation, High-Throughput Nucleotide Sequencing, Regular Article, Pheochromocytoma, Middle Aged, Pathology and Forensic Medicine, Paraganglioma, Mutation, Journal Article, Molecular Medicine, Humans, Female

وصف الملف: application/pdf; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::273ceceb13119921a7bf41619b299ab4Test
https://hdl.handle.net/20.500.12530/39448Test