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by Vidal, Silvia and Brandi, Núria and Pacheco, Paola and Gerotina, Edgar and Blasco, Laura and Trotta, Jean-Rémi and Derdak, Sophia and Del Mar O'Callaghan, Maria and Garcia-Cazorla, Àngels and Pineda, Mercè and Armstrong, Judith and Aguirre, Francisco Javier and Aleu, Montserrat and Alonso, Xènia and Alsius, Mercè and Inmaculada Amorós, Maria and Antiñolo, Guillermo and Aquino, Lourdes and Arellano, Carmen and Arriola, Gema and Arteaga, Rosa and Baena, Neus and Barcos, Montserrat and Belzunces, Nuria and Boronat, Susana and Camacho, Tomás and Campistol, Jaume and Del Campo, Miguel and Campo, Andrea and Cancho, Ramon and Candau, Ramon and Canós, Ignacio and Carrascosa, María Del Carmen and Carratalá-Marco, Francisco and Casano, Jovaní and Castro, Pedro and Cobo, Ana and Colomer, Jaime and Conejo, David and Corrales, Maria José and Cortés, Rocío and Cruz, Gabriel and Csányi, Gábor and De Santos, María Teresa and De Toledo, María and Toro, Mireia Del and Domingo, Rosario and Duat, Anna and Duque, Rosario and Esparza, Ana María and Fernández, Rosa and Fons, Maria Carme and Fontalba, Ana and Galán, Enrique and Gallano, Pia and Gamundi, María José and García, Pedro Luis and García, María Del Mar and García-Barcina, María and Garcia-Catalan, María Jesús and García-Miñaur, Sixto and Garcia-Peñas, Juan Jose and García-Silva, María Teresa and Gassio, Rosa and Geán, Esther and Gil, Belén and Gökben, Sarenur and Gonzalez, Luis and Gonzalez, Veronica and Gonzalez, Julieta and González, Gloria and Guillén, Encarna and Guitart, Miriam and Guitet, Montserrat and Gutierrez, Juan Manuel and Gutiérrez, Eva and Herranz, Jose Luís and Iglesias, Gemma and Karacic, Iva and Lahoz, Carlos H and Lao, José Ignacio and Lapunzina, Pablo and Lautre-Ecenarro, María Jesús and Lluch, María Dolores and López, Laura and López-Ariztegui, Asunción and Macaya, Alfons and Marín, Rosario and Marquez, Charles M. Lourenço and Martín, Elena and Martínez, Beatriz and Martínez-Salcedo, Eduardo and Mas, María José and Mateo, Gonzalo and Mendez, Pilar and Jimenez, Amparo Morant and Moreno, Sira and Mulas, Fernando and Narbona, Juan and Nascimento, Andrés and ... and Rett Working Grp and Rett Working Group
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 12288 - 11
... diagnostics in Rett syndrome Silvia Vidal1, Núria Brandi2, Paola Pacheco1, Edgar Gerotina1, Laura Blasco1, Jean-Rémi Trotta3, Sophia Derdak3, Maria del Mar... 
INTELLECTUAL DISABILITY | CRITERIA | AUTISM | DE-NOVO MUTATIONS | DATABASE | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | DYSFUNCTION | EPILEPSY | GENOME | DISCOVERY | Foxg1 protein | Methyl-CpG binding protein | MeCP2 protein | Etiology | Rett syndrome | Neurodevelopmental disorders | Age | Genetic screening
Journal Article
2006, 2. ed., Colección Universos personales, ISBN 9871125887, 287
Cuadernos LIRICO, ISSN 2263-2158, 09/2013
Este número de Cuadernos LIRICO está dedicado a Ana María Barrenechea, destacada profesora e investigadora argentina que fue maestra de varias generaciones... 
Journal Article
by Abad-Arranz, María and Moran-Rodríguez, Ana and Mascarós Balaguer, Enrique and Quintana Velasco, Carmen and Abad Polo, Laura and Núñez Palomo, Sara and Gonzálvez Rey, Jaime and Fernández Vargas, Ana María and Hidalgo Requena, Antonio and Helguera Quevedo, Jose Manuel and García Pardo, Marina and Lopez-Campos, Jose Luis and Morán Rodríguez, Ana and Abad-Arranz, María and Fernández Vargas, Ana M and Elorza Maza, Beatriz and Pulido Vázquez, Cristina and De Haro Muñoz, Eloy and Pérez Ortiz, Enrique and López Verde, Fernando and Guirado Hidalgo, Francisco José and Martínez Ríos, Irene and Lopez López, Jose María and Lara González, Juan Antonio and Navarro González, Juan Carlos and Del Rey Pérez, Manolo and Resa Alcalá, Manuel and Franco Reins, Ramon Nicolas and Rabaneda Bueno, Raúl and Galván Espinosa, José and Cerón, José Miguel and Núñez Montenegro, Antonio and Contreras, Eugenio and Crisán, Andra and Quevedo Benyto, Bárbara and Sanchís Yago, Beatriz and Cañardo Alastuey, Clara and Lanuzzelli Barroso, Clara and López Mas, Clara and Rubio Castro, Daniel and Rojo Calderón, Arancha and Toca Incera, Carmen and Rueda Alonso, Esperanza and Bermejo Ruiz, Helena and López Caro, Juan Carlos and Sainz De Rozas Arpide, Luis and Fernández Lerones, María Jesús and Romero De Ávila Cabezón, Gabriel and Chapela Villa, Carlos and Otero González, Ruth and Parada Jorgal, Jose Ramón and Valle González, Irene and Espantoso Romero, Maite and Friande Pereira, Susana and Montero Costa, Alejandra and Jorge Formariz, Alicia and Hernández Regalado, Ana Isabel and Rey López, Ana Maria and Val, Ángel Alonso and Laguna, Ángel Luis and Quijada Monso, Ángel and Casado Aguado, Ángeles and Bordzynska Michalska, Beata and Orozco Carratalá, Beatriz and Solans Aisa, Beatriz and Mateo Pascual, Carmen and Vieira Pascual, Carmen and Alvarez Alonso, Cristina and García Lombardia, Cristina and González Gallardo, David and Morata Perelló, Dolores and Valinoti, Eleonora and Astorga García, Elisabet and Santos Montealegre, Encarnación and Rodríguez De Mingo, Enrique and Sánchez Martín, Francisco and Viñas Fernández, Gloria and López Fernández, Guillermina and Valero Infantes, Itziar and Marín Cañada, Jaime and Martínez Carrasco, José Luis and Sánchez Picón, José Ramón and Moreno Fernández, Juan Carlos and Pinar Manzanet, Juan Miguel and Caballer Rodilla, Julia and Martínez Irazusta, Juncal and Pérez Esteban, Leticia and Toledano Rubio, Luis and García Benito, Maria Belén and Ortega Trompeta, Maria Belén and Díez Pérez, María Cruz and Tuñón Leiva, María Dolores and Lougedo Calderón, María José and Lorenzo Borda, María Sol and Jimeno Rodríguez, Margarita and Lobón Agúndez, Maria Carmen and García Granado, Maria Dolores and Ruesga Estébanez, Marta and Adriaá Sanz, Mercedes and Capitán Caldas, Mercedes and ... and COACH Study Investigators and COACH study investigators and on behalf of the COACH study investigators
BMC Medical Research Methodology, ISSN 1471-2288, 07/2018, Volume 18, Issue 1, pp. 68 - 13
Journal Article
by Xiol, C and Vidal, S and Pascual-Alonso, A and Blasco, L and Brandi, N and Pacheco, P and Gerotina, E and O'Callaghan, M and Pineda, M and Armstrong, J and Aguirre, FJ and Aleu, M and Alonso, X and Alsius, M and Amoros, M and Antinolo, G and Aquino, L and Arellano, C and Arriola, G and Arteaga, R and Baena, N and Barcos, M and Belzunces, N and Boronat, S and Camacho, T and Campistol, J and del Campo, M and Campo, A and Cancho, R and Candau, R and Canos, I and Carrascosa, MD and Carratala-Marco, F and Casano, J and Castro, P and Cobo, A and Colomer, J and Conejo, D and Corrales, MJ and Cortes, R and Cruz, G and Csanyi, G and de Santos, MT and de Toledo, M and Del Campo, M and Del Toro, M and Domingo, R and Duat, A and Duque, R and Esparza, AM and Fernandez, R and Fons, MC and Fontalba, A and Galan, E and Gallano, P and Gamundi, MJ and Garcia, PL and Garcia, MD and Garcia-Barcina, M and Garcia-Catalan, MJ and Garcia-Cazorla, A and Garcia-Minaur, S and Garcia-Penas, JJ and Garcia-Silva, MT and Gassio, R and Gean, E and Gil, B and Gokben, S and Gonzalez, L and Gonzalez, V and Gonzalez, J and Gonzalez, G and Guillen, E and Guitart, M and Guitet, M and Gutierrez, JM and Gutierrez, E and Herranz, JL and Iglesias, G and Karacic, I and Lahoz, CH and Lao, JI and Lapunzina, P and Lautre-Ecenarro, MJ and Lluch, MD and Lopez, L and Lopez-Ariztegui, A and Macaya, A and Marin, R and Marquez, CML and Martin, E and Martinez, B and Martinez-Salcedo, E and Mas, MJ and Mateo, G and Mendez, P and Jimenez, AM and Moreno, S and Mulas, F and Narbona, J and ... and Rett Working Grp and Rett Working Group
SCIENTIFIC REPORTS, ISSN 2045-2322, 08/2019, Volume 9, Issue 1, pp. 11983 - 9
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X... 
MECP2 MUTATIONS | PATTERNS | METHYLATION | GENE | MULTIDISCIPLINARY SCIENCES | BRAIN | Phenotypes | Transcription | Phenotypic variations | Blood | Neurological diseases | Methyl-CpG binding protein | MeCP2 protein | X Chromosomes | Rett syndrome | Alleles | Mutation | Methylation | Chromosomes
Journal Article
by Delgado, E and Benito, S and Montero, V and Cuevas, MT and Fernandez-Garcia, A and Sanchez-Martinez, M and Garcia-Bodas, E and Diez-Fuertes, F and Gil, H and Canada, J and Carrera, C and Martinez-Lopez, J and Sintes, M and Perez-Alvarez, L and Thomson, MM and Munoz, J and Nieto, MC and Zubero, MZ and Hernaez-Crespo, S and Otazua, LE and Soria, LL and Agirrebengoa, K and de Goicoechea, MJL and Mayo, J and Cilla, G and Arrizabalaga, J and Iribarren, JA and Bustinduy, MJ and Echevarria, MJ and Lezaun, MJ and Portu, JJ and Gomez-Gonzalez, C and Marino, A and Ordonez, P and Alvarez, H and Valcarce, N and Canizares, A and Castro, MA and Coira, MA and Lopez-Alvarez, MJ and Rabunal, R and Garcia-Costa, J and Fernandez-Rodriguez, R and Rodriguez-Perez, R and Guitian, J and Ocampo, A and Miralles, C and Perez-Castro, S and Trigo, M and Diz-Aren, J and Pallares, MA and Baquedano, CE and Aguinaga, A and de Alda, MGR and del Romero, J and Rodriguez, C and Vera, M and Ayerdi, O and Garcia-Arata, MI and Prieto-Menchero, S and Culebras, E and Rodriguez-Avial, I and Tellez, R and Gorgolas, M and Fernandez-Guerrero, M and Calabia, O and Garcia-Delgado, R and Quevedo, SM and Puente, L and Alamo, M and Alfange, A and de la Fuente, S and Hinojosa, C and Duenas, C and Monteagudo, B and Sanchez, E and Sanchez, CR and Bachiller, P and Guillen, H and Martinez-Dominguez, T and Martinez-Gonzalez, R and Blanco, JR and Blasco, M and Martinez-Sapina, AM and Larrea, DO and Gomez-Hernando, C and Largo-Pau, J and Bunuel, F and Infante, A and Spanish Grp Study New HIV Diagnose and Spanish Group for the Study of New HIV Diagnoses and The Spanish Group for the Study of New HIV Diagnoses
FRONTIERS IN MICROBIOLOGY, ISSN 1664-302X, 04/2019, Volume 10, p. 655
Journal Article
PLOS ONE, ISSN 1932-6203, 10/2019, Volume 14, Issue 10, p. e0223536
Journal Article
JAIDS Journal of Acquired Immune Deficiency Syndromes, ISSN 1525-4135, 07/2018, Volume 78, Issue 3, pp. 329 - 337
BACKGROUND:The objective of this study was to investigate the long-term impact of low-level viremia (LLV) on all-cause mortality, AIDS and non-AIDS events... 
Virological failure | AIDS event | Death | Non-AIDS event | Low-level viremia | MORTALITY | low-level viremia | INFECTIOUS DISEASES | death | INTERMITTENT | RISK | HIV-1-INFECTED PATIENTS | DRUG-RESISTANCE | PREVALENCE | IMMUNOLOGY | THERAPY | REPLICATION | non-AIDS event | CONSEQUENCES | virological failure
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2018, Volume 13, Issue 6, p. e0197876
Journal Article