RT info:eu-repo/semantics/article
T1 The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
A1 Vidal, Silvia
A1 Brandi, Núria
A1 Pacheco, Paola
A1 Gerotina, Edgar
A1 Blasco, Laura
A1 Trotta, Jean-Rémi
A1 Derdak, Sophia
A1 del Mar O’Callaghan, Maria
A1 García Cazorla, Àngels
A1 Pineda, Mercè
A1 Armstrong, Judith
A1 Aguirre, Francisco Javier
A1 Aleu, Montserrat
A1 Alonso, Xènia
A1 Alsius, Mercè
A1 Inmaculada Amorós, Maria
A1 Antiñolo, Guillermo
A1 Aquino, Lourdes
A1 Arellano, Carmen
A1 Arriola, Gema
A1 Arteaga, Rosa
A1 Baena, Neus
A1 Barcos, Montserrat
A1 Belzunces, Nuria
A1 Boronat, Susana
A1 Camacho, Tomás
A1 Campistol, Jaume
A1 del Campo, Miguel
A1 Campo, Andrea
A1 Candau, Ramon
A1 Canós, Ignacio
A1 Carrascosa, María del Carmen
A1 Carratalá-Marco, Francisco
A1 Casano, Jovaní
A1 Castro, Pedro
A1 Cobo, Ana
A1 Colomer, Jaime
A1 Conejo, David
A1 Corrales, Maria José
A1 Cortés, Rocío
A1 Cruz, Gabriel
A1 Csányi, Gábor
A1 de Santos, María Teresa
A1 de Toledo, María
A1 Toro, Mireia Del
A1 Domingo, Rosario
A1 Duat, Anna
A1 Duque, Rosario
A1 Esparza, Ana María
A1 Fernández, Rosa
A1 Fons, Maria Carme
A1 Fontalba, Ana
A1 Galán, Enrique
A1 Gallano, Pia
A1 Gamundi, María José
A1 García, Pedro Luis
A1 García, María del Mar
A1 García-Barcina, María
A1 Garcia-Catalan, María Jesús
A1 García-Miñaur, Sixto
A1 Garcia-Peñas, Juan Jose
A1 García-Silva, María Teresa
A1 Gassio, Rosa
A1 Geán, Esther
A1 Gil, Belén
A1 Gökben, Sarenur
A1 Gonzalez, Luis
A1 Gonzalez, Veronica
A1 Gonzalez, Julieta
A1 González, Gloria
A1 Guillén, Encarna
A1 Guitart, Miriam
A1 Guitet, Montserrat
A1 Gutierrez, Juan Manuel
A1 Gutiérrez, Eva
A1 Herranz, Jose Luís
A1 Iglesias, Gemma
A1 Karacic, Iva
A1 Lahoz, Carlos H.
A1 Lao, José Ignacio
A1 Lapunzina, Pablo
A1 Lautre-Ecenarro, María Jesús
A1 Lluch, María Dolores
A1 López, Laura
A1 López-Ariztegui, Asunción
A1 Macaya, Alfons
A1 Marín, Rosario
A1 Marquez, Charles M. Lourenço
A1 Martín, Elena
A1 Martínez, Beatriz
A1 Martínez-Salcedo, Eduardo
A1 Mas, María José
A1 Mateo, Gonzalo
A1 Mendez, Pilar
A1 Jimenez, Amparo Morant
A1 Moreno, Sira
A1 Mulas, Fernando
A1 Narbona, Juan
A1 Nascimento, Andrés
A1 Nieto, Manuel
A1 Nunes, Tania Fabiola
A1 Núñez, Núria
A1 Obón, María
A1 Onsurbe, Ignacio
A1 Ortez, Carlos Ignacio
A1 Orts, Emilio
A1 Martinez, Francisco
A1 Parrilla, Rafael
A1 Pascual, Samuel Ignacio
A1 Patiño, Ana
A1 Pérez-Poyato, Maria
A1 Pérez-Dueñas, Belén
A1 Póo, Pilar
A1 Puche, Eliodoro
A1 Ramos, Feliciano
A1 Raspall, Miquel
A1 Roche, Ana
A1 Roldan, Susana
A1 Rosell, Jordi
A1 Ruiz, Cesar
A1 Ruiz-Falcó, María Luz
A1 Russi, Maria Eugenia
A1 Samarra, Jordi
A1 Antonio, Victoria San
A1 Sanchez, Ivan
A1 Sanmartin, Xavier
A1 Sans, Ana
A1 Santacana, Alfredo
A1 Scholl-Bürgi, Sabine
A1 Serrano, Nuria
A1 Serrano, Mercedes
A1 Martin-Tamayo, Pilar
A1 Tendero, Adrián
A1 Torrents, Jaime
A1 Tortosa, Diego
A1 Triviño, Emma
A1 Troncoso, Ledia
A1 Turrón, Eulalia
A1 Vázquez, Pilar
A1 Vázquez, Carlos
A1 Velázquez, Ramón
A1 Ventura, Clara
A1 Verdú, Alfonso
A1 Vernet, Anna
A1 Vila, M. Tomás
A1 Villar, Cristina
A1 Cancho Candela, Ramón
AB Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because of the quickness and affordability of the method. To evaluate the usefulness of NGS in genetic diagnosis, we present the genetic study of RTT like patients using different techniques based on this technology. We studied 1577 patients with RTT like clinical diagnoses and reviewed patients who were previously studied and thought to have RTT genes by Sanger sequencing. Genetically, 477 of 1577 patients with a RTT-like suspicion have been diagnosed. Positive results were found in 30% by Sanger sequencing, 23% with a custom panel, 24% with a commercial panel and 32% with whole exome sequencing. A genetic study using NGS allows the study of a larger number of genes associated with RTT-like symptoms simultaneously, providing genetic study of a wider group of patients as well as significantly reducing the response time and cost of the study
PB Nature
YR 2017
FD 2017
LK https://uvadoc.uva.es/handle/10324/64712
UL https://uvadoc.uva.es/handle/10324/64712
LA spa
NO Scientific Reports. 25 sept 2017 5;7(1):12288
NO Producción Científica
DS UVaDOC
RD 05-oct-2025