Search Results - "Rosell Andreo, Jordi"

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes by Delio, Maria, Guo, Tingwei, McDonald-McGinn, Donna M., Zackai, Elaine, Herman, Sean, Kaminetzky, Mark, Higgins, Anne Marie, Coleman, Karlene, Chow, Carolyn, Jarlbrzkowski, Maria, Bearden, Carrie E., Bailey, Alice, Vangkilde, Anders, Olsen, Line, Olesen, Charlotte, Skovby, Flemming, Werge, Thomas M., Templin, Ludivine, Busa, Tiffany, Philip, Nicole, Swillen, Ann, Vermeesch, Joris R., Devriendt, Koen, Schneider, Maude, Dahoun, Sophie, Eliez, Stephan, Schoch, Kelly, Hooper, Stephen R., Shashi, Vandana, Samanich, Joy, Marion, Robert, van Amelsvoort, Therese, Boot, Erik, Klaassen, Petra, Duijff, Sasja N., Vorstman, Jacob, Yuen, Tracy, Silversides, Candice, Chow, Eva, Bassett, Anne, Frisch, Amos, Weizman, Abraham, Gothelf, Doron, Niarchou, Maria, van den Bree, Marianne, Owen, Michael J., Suñer, Damian Heine, Andreo, Jordi Rosell, Armando, Marco, Vicari, Stefano, Digilio, Maria Cristina, Auton, Adam, Kates, Wendy R., Wang, Tao, Shprintzen, Robert J., Emanuel, Beverly S., Morrow, Bernice E.

“…Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous…”
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The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans by Ripoll Vera, Tomás, Monserrat Iglesias, Lorenzo, Hermida Prieto, Manuel, Ortiz, Martin, Rodriguez Garcia, Isabel, Govea Callizo, Nancy, Gómez Navarro, Carlos, Rosell Andreo, Jordi, Gámez Martínez, José María, Pons Lladó, Guillermo, Cremer Luengos, David, Torres Marqués, Joan

“…Abstract Background The R820W mutation in the MYBPC3 gene has been associated with the development of hypertrophic cardiomyopathy (HCM) in rag-doll cats, but…”
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Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes by Delio, Maria, Guo, Tingwei, McDonald-McGinn, Donna M., Zackai, Elaine, Herman, Sean, Kaminetzky, Mark, Higgins, Anne Marie, Coleman, Karlene, Chow, Carolyn, Jalbrzikowski, Maria, Bearden, Carrie E., Bailey, Alice, Vangkilde, Anders, Olsen, Line, Olesen, Charlotte, Skovby, Flemming, Werge, Thomas M., Templin, Ludivine, Busa, Tiffany, Philip, Nicole, Swillen, Ann, Vermeesch, Joris R., Devriendt, Koen, Schneider, Maude, Dahoun, Sophie, Eliez, Stephan, Schoch, Kelly, Hooper, Stephen R., Shashi, Vandana, Samanich, Joy, Marion, Robert, van Amelsvoort, Therese, Boot, Erik, Klaassen, Petra, Duijff, Sasja N., Vorstman, Jacob, Yuen, Tracy, Silversides, Candice, Chow, Eva, Bassett, Anne, Frisch, Amos, Weizman, Abraham, Gothelf, Doron, Niarchou, Maria, van den Bree, Marianne, Owen, Michael J., Suñer, Damian Heine, Andreo, Jordi Rosell, Armando, Marco, Vicari, Stefano, Digilio, Maria Cristina, Auton, Adam, Kates, Wendy R., Wang, Tao, Shprintzen, Robert J., Emanuel, Beverly S., Morrow, Bernice E.

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New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy by Caimi-Martinez, Fiama, Antoniutti, Guido, Blanco, Rocio, García de la Villa, Bernardo, Alvarenga, Nelson, Govea-Callizo, Nancy, Torres-Juan, Laura, Heine-Suñer, Damián, Rosell-Andreo, Jordi, Luengos, David Crémer, Alvarez-Rubio, Jorge, Ripoll-Vera, Tomás

“…Arrhythmogenic cardiomyopathy (ACM) is an inherited disease characterized by progressive fibroadipose replacement of cardiomyocytes. Its diagnosis is based on…”
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Post-mortem toxicology in the diagnosis of sudden death in young and middle-aged victims by Ripoll, T, García, A B, Gomila, I, Heine, D, Poncela, J L, Sánchez, N, Pérez, C, García, E, Hernández, E, Barceló, A, Busardo, F P, Barceló, B

“…We aimed to investigate the impact of the toxicological results found in cases of sudden death (SD) and to correlate the clinical, autopsy and genetic findings…”
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Sudden cardiac death in persons aged 50 years or younger: diagnostic yield of a regional molecular autopsy program using massive sequencing by Ripoll-Vera, Tomás, Pérez Luengo, Consuelo, Borondo Alcázar, Juan Carlos, García Ruiz, Ana Belén, Sánchez Del Valle, Nieves, Barceló Martín, Bernardino, Poncela García, Juan Luis, Gutiérrez Buitrago, Gloria, Dasi Martínez, Concepción, Canós Villena, Juan Carlos, Moyano Corvillo, Susana, Esgueva Pallarés, Raquel, Sancho Sancho, Juan Ramón, Guitart Pinedo, Gemma, Hernández Marín, Elena, García García, Estela, Vingut López, Albert, Álvarez Rubio, Jorge, Govea Callizo, Nancy, Gómez Pérez, Yolanda, Melià Mesquida, Catalina, Heine, Damián, Rosell Andreo, Jordi, Socías Crespí, Lorenzo

“…Sudden cardiac death (SCD) in young people often has a genetic cause. Consequently, the results of “molecular autopsy” may have important implications for…”
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Muerte súbita de jóvenes: rendimiento diagnóstico de un programa autonómico de autopsia molecular con secuenciación masiva by Ripoll-Vera, Tomás, Pérez Luengo, Consuelo, Borondo Alcázar, Juan Carlos, García Ruiz, Ana Belén, Sánchez Del Valle, Nieves, Barceló Martín, Bernardino, Poncela García, Juan Luis, Gutiérrez Buitrago, Gloria, Dasi Martínez, Concepción, Canós Villena, Juan Carlos, Moyano Corvillo, Susana, Esgueva Pallarés, Raquel, Sancho Sancho, Juan Ramón, Guitart Pinedo, Gemma, Hernández Marín, Elena, García García, Estela, Vingut López, Albert, Álvarez Rubio, Jorge, Govea Callizo, Nancy, Gómez Pérez, Yolanda, Melià Mesquida, Catalina, Heine, Damián, Rosell Andreo, Jordi, Socías Crespí, Lorenzo

“…La muerte súbita (MS) de personas jóvenes suele tener una causa genética, por lo cual la «autopsia molecular» puede tener implicaciones importantes para los…”
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The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans by Ripoll Vera, Tomás, Monserrat Iglesias, Lorenzo, Hermida Prieto, Manuel, Ortiz, Martin, Rodriguez Garcia, Isabel, Govea Callizo, Nancy, Gómez Navarro, Carlos, Rosell Andreo, Jordi, Gámez Martínez, José María, Pons Lladó, Guillermo, Cremer Luengos, David, Torres Marqués, Joan

“…BACKGROUNDThe R820W mutation in the MYBPC3 gene has been associated with the development of hypertrophic cardiomyopathy (HCM) in rag-doll cats, but had not…”
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