Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Tejada, Maria-Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy
Published in Human mutation (01.12.2015)
Published in Human mutation (01.12.2015)
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Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability
Ibarluzea, Nekane, Hoz, Ana Belén de la, Villate, Olatz, Llano, Isabel, Ocio, Intzane, Martí, Itxaso, Guitart, Miriam, Gabau, Elisabeth, Andrade, Fernando, Gener, Blanca, Tejada, María-Isabel
Published in Genes (02.01.2020)
Published in Genes (02.01.2020)
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Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases
Blanco, Ana, de la Hoya, Miguel, Osorio, Ana, Diez, Orland, Miramar, María Dolores, Infante, Mar, Martinez-Bouzas, Cristina, Torres, Asunción, Lasa, Adriana, Llort, Gemma, Brunet, Joan, Graña, Begoña, Perez Segura, Pedro, Garcia, María José, Gutiérrez-Enríquez, Sara, Carracedo, Ángel, Tejada, María-Isabel, Velasco, Eladio A, Calvo, María-Teresa, Balmaña, Judith, Benitez, Javier, Caldés, Trinidad, Vega, Ana
Published in PloS one (23.07.2013)
Published in PloS one (23.07.2013)
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Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome
Villate, Olatz, Ibarluzea, Nekane, Fraile-Bethencourt, Eugenia, Valenzuela, Alberto, Velasco, Eladio A, Grozeva, Detelina, Raymond, F L, Botella, María P, Tejada, María-Isabel
Published in Frontiers in genetics (26.01.2018)
Published in Frontiers in genetics (26.01.2018)
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Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families
García, María J, Fernández, Victoria, Osorio, Ana, Barroso, Alicia, LLort, Gemma, Lázaro, Conxi, Blanco, Ignacio, Caldés, Trinidad, de la Hoya, Miguel, Ramón y Cajal, Teresa, Alonso, Carmen, Tejada, María-Isabel, San Román, Carlos, Robles-Díaz, Luis, Urioste, Miguel, Benítez, Javier
Published in Breast cancer research and treatment (01.02.2009)
Published in Breast cancer research and treatment (01.02.2009)
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Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer
Blanco, Ana, de la Hoya, Miguel, Balmaña, Judith, Ramón y Cajal, Teresa, Teulé, Alex, Miramar, María-Dolores, Esteban, Eva, Infante, Mar, Benítez, Javier, Torres, Asunción, Tejada, María-Isabel, Brunet, Joan, Graña, Begoña, Balbín, Milagros, Pérez-Segura, Pedro, Osorio, Ana, Velasco, Eladio A., Chirivella, Isabel, Calvo, María-Teresa, Feliubadaló, Lidia, Lasa, Adriana, Díez, Orland, Carracedo, Angel, Caldés, Trinidad, Vega, Ana
Published in Breast cancer research and treatment (01.02.2012)
Published in Breast cancer research and treatment (01.02.2012)
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L-acetylcarnitine for treating fragile X syndrome
Rueda, José-Ramón, Guillén, Virginia, Ballesteros, Javier, Tejada, Maria-Isabel, Solà, Ivan
Published in Cochrane database of systematic reviews (19.05.2015)
Published in Cochrane database of systematic reviews (19.05.2015)
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The Average Cumulative Risks of Breast and Ovarian Cancer for Carriers of Mutations in BRCA1 and BRCA2 Attending Genetic Counseling Units in Spain
Milne, Roger L, Osorio, Ana, Cajal, Teresa Ramón Y, Vega, Ana, Llort, Gemma, de la Hoya, Miguel, Díez, Orland, Alonso, M Carmen, Lazaro, Conxi, Blanco, Ignacio, Sánchez-de-Abajo, Ana, Caldés, Trinidad, Blanco, Ana, Graña, Begoña, Durán, Mercedes, Velasco, Eladio, Chirivella, Isabel, Cardeñosa, Eva Esteban, Tejada, María-Isabel, Beristain, Elena, Miramar, María-Dolores, Calvo, María-Teresa, Martínez, Eduardo, Guillén, Carmen, Salazar, Raquel, San Román, Carlos, Antoniou, Antonis C, Urioste, Miguel, Benítez, Javier
Published in Clinical cancer research (01.05.2008)
Published in Clinical cancer research (01.05.2008)
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Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
Milne, Roger L, Osorio, Ana, Ramón y Cajal, Teresa, Baiget, Montserrat, Lasa, Adriana, Diaz-Rubio, Eduardo, de la Hoya, Miguel, Caldés, Trinidad, Teulé, Alex, Lázaro, Conxi, Blanco, Ignacio, Balmaña, Judith, Sánchez-Ollé, Gessamí, Vega, Ana, Blanco, Ana, Chirivella, Isabel, Esteban Cardeñosa, Eva, Durán, Mercedes, Velasco, Eladio, Martínez de Dueñas, Eduardo, Tejada, María-Isabel, Miramar, María-Dolores, Calvo, María-Teresa, Guillén-Ponce, Carmen, Salazar, Raquel, San Román, Carlos, Urioste, Miguel, Benítez, Javier
Published in Breast cancer research and treatment (2010)
Published in Breast cancer research and treatment (2010)
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Molecular Testing for Fragile X : Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain
Hernández-Chico, Concepción, Pintado, Elizabet, Rosell, Jordi, Calvo, María-Teresa, Ayuso, Carmen, Ramos-Arroyo, María-Antonia, Maortua, Hiart, Milà, Montserrat, Tejada, María-Isabel, Ramos, Feliciano J., Fernández-Carvajal, Isabel, de Diego-Otero, Yolanda, Glover, Guillermo, Martínez, Francisco, Guitart, Miriam
Published in BioMed research international (01.01.2014)
Published in BioMed research international (01.01.2014)
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A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3
Tejada, María-Isabel, Martínez-Bouzas, Cristina, García-Ribes, Ainhoa, Larrucea, Susana, Acquadro, Francesco, Cigudosa, Juan-C, Belet, Stefanie, Froyen, Guy, López-Aríztegui, Maria-Asun
Published in Pediatrics (Evanston) (01.10.2011)
Published in Pediatrics (Evanston) (01.10.2011)
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Folic acid for fragile X syndrome
Rueda, José-Ramón, Ballesteros, Javier, Guillen, Virginia, Tejada, Maria-Isabel, Solà, Ivan
Published in Cochrane database of systematic reviews (11.05.2011)
Published in Cochrane database of systematic reviews (11.05.2011)
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Systematic review of pharmacological treatments in fragile X syndrome
Rueda, Jose-Ramon, Ballesteros, Javier, Tejada, Maria-Isabel
Published in BMC neurology (13.10.2009)
Published in BMC neurology (13.10.2009)
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Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration
Plaja, Alberto, Lloveras, Elisabet, Martinez-Bouzas, Cristina, Barreña, Beatriz, Campo, Miguel Del, Fernández, Asunción, Herrero, Marta, Barranco, Laura, Palau, Nuria, López-Aríztegui, M. Asunción, Català, Vicenç, Tejada, Maria-Isabel
Published in American journal of medical genetics. Part A (01.09.2013)
Published in American journal of medical genetics. Part A (01.09.2013)
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CHEK2 1100delC is present in familial breast cancer cases of the Basque Country
Martínez-Bouzas, Cristina, Beristain, Elena, Guerra, Isabel, Gorostiaga, Javier, Mendizabal, Jose-Luis, De-Pablo, Jose-Luis, García-Alegría, Eva, Sanz-Parra, Arantza, Tejada, Maria-Isabel
Published in Breast cancer research and treatment (01.05.2007)
Published in Breast cancer research and treatment (01.05.2007)
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MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males)
Maortua, Hiart, Martínez-Bouzas, Cristina, García-Ribes, Ainhoa, Martínez, María-Jesus, Guillen, Encarna, Domingo, María-Rosario, Calvo, María-Teresa, Guitart, Miriam, Gabau, Elisabeth, Botella, María-Pilar, Gener, Blanca, Rubio, Izaskun, López-Aríztegui, María-Asunción, Tejada, María-Isabel
Published in The Journal of molecular diagnostics : JMD (01.09.2013)
Published in The Journal of molecular diagnostics : JMD (01.09.2013)
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CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain
Maortua, Hiart, Martínez-Bouzas, Cristina, Calvo, María-Teresa, Domingo, Maria-Rosario, Ramos, Feliciano, García-Ribes, Ainhoa, Martínez, María-Jesús, López-Aríztegui, María-Asunción, Puente, Nerea, Rubio, Izaskun, Tejada, María-Isabel
Published in BMC genetics (06.08.2012)
Published in BMC genetics (06.08.2012)
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The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)
Franken, Gijs A. C., Müller, Dominik, Mignot, Cyril, Keren, Boris, Lévy, Jonathan, Tabet, Anne‐Claude, Germanaud, David, Tejada, María‐Isabel, Kroes, Hester Y., Nievelstein, Rutger A. J., Brimble, Elise, Ruzhnikov, Maria, Claverie‐Martin, Felix, Szczepańska, Maria, Ćuk, Martin, Latta, Femke, Konrad, Martin, Martínez‐Cruz, Luis A., Bindels, René J. M., Hoenderop, Joost G. J., Schlingmann, Karl‐Peter, Baaij, Jeroen H. F.
Published in Human mutation (01.04.2021)
Published in Human mutation (01.04.2021)
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