Systematic review of pharmacological treatments in fragile X syndrome

por Rueda, Jose-Ramon, Ballesteros, Javier, Tejada, Maria-Isabel
Publicado 2009

RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome

por Villate, Olatz, Maortua, Hiart, Tejada, María-Isabel, Llano-Rivas, Isabel
Publicado 2022

Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study

por Merino, Sonia, Ibarluzea, Nekane, Maortua, Hiart, Prieto, Begoña, Rouco, Idoia, López-Aríztegui, Maria-Asunción, Tejada, Maria-Isabel
Publicado 2016

3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

por de la Hoz, Ana Belén, Maortua, Hiart, García-Rives, Ainhoa, Martínez-González, María Jesús, Ezquerra, Maitane, Tejada, María-Isabel
Publicado 2015

Effect of AGG Interruptions on FMR1 Maternal Transmissions

por Villate, Olatz, Ibarluzea, Nekane, Maortua, Hiart, de la Hoz, Ana Belén, Rodriguez-Revenga, Laia, Izquierdo-Álvarez, Silvia, Tejada, María Isabel
Publicado 2020

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)

por Sherman, Stephanie L, Curnow, Eliza C, Easley, Charles A, Jin, Peng, Hukema, Renate K, Tejada, Maria Isabel, Willemsen, Rob, Usdin, Karen
Publicado 2014

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 Syn...

por Villate, Olatz, Ibarluzea, Nekane, Fraile-Bethencourt, Eugenia, Valenzuela, Alberto, Velasco, Eladio A., Grozeva, Detelina, Raymond, F. L., Botella, María P., Tejada, María-Isabel
Publicado 2018

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

por Tejada, María Isabel, Villate, Olatz, Ibarluzea, Nekane, de la Hoz, Ana Belén, Martínez-Bouzas, Cristina, Beristain, Elena, Martínez, Francisco, Friez, Michael J., Sobrino, Beatriz, Barros, Francisco
Publicado 2019

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability

por Ibarluzea, Nekane, de la Hoz, Ana Belén, Villate, Olatz, Llano, Isabel, Ocio, Intzane, Martí, Itxaso, Guitart, Miriam, Gabau, Elisabeth, Andrade, Fernando, Gener, Blanca, Tejada, María-Isabel
Publicado 2020

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

por 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
Publicado 2012

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

por Tejada, María-Isabel, Glover, Guillermo, Martínez, Francisco, Guitart, Miriam, de Diego-Otero, Yolanda, Fernández-Carvajal, Isabel, Ramos, Feliciano J., Hernández-Chico, Concepción, Pintado, Elizabet, Rosell, Jordi, Calvo, María-Teresa, Ayuso, Carmen, Ramos-Arroyo, María-Antonia, Maortua, Hiart, Milà, Montserrat
Publicado 2014

Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

por Aguilera-Albesa, Sergio, de la Hoz, Ana Belén, Ibarluzea, Nekane, Ordóñez-Castillo, Andrés R., Busto-Crespo, Olivia, Villate, Olatz, Ibiricu-Yanguas, María Asunción, Yoldi-Petri, María E., García de Gurtubay, Iñaki, Perez de Nanclares, Guiomar, Pereda, Arrate, Tejada, María Isabel
Publicado 2020

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

por 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
Publicado 2015

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

por 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
Publicado 2013

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

por 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, de Baaij, Jeroen H. F.
Publicado 2021

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

por Bauer, Michael, Kölsch, Uwe, Krüger, Renate, Unterwalder, Nadine, Hameister, Karin, Kaiser, Fabian Marc, Vignoli, Aglaia, Rossi, Rainer, Botella, Maria Pilar, Budisteanu, Magdalena, Rosello, Monica, Orellana, Carmen, Tejada, Maria Isabel, Papuc, Sorina Mihaela, Patat, Oliver, Julia, Sophie, Touraine, Renaud, Gomes, Thusari, Wenner, Kirsten, Xu, Xiu, Afenjar, Alexandra, Toutain, Annick, Philip, Nicole, Jezela-Stanek, Aleksandra, Gortner, Ludwig, Martinez, Francisco, Echenne, Bernard, Wahn, Volker, Meisel, Christian, Wieczorek, Dagmar, El-Chehadeh, Salima, Van Esch, Hilde, von Bernuth, Horst
Publicado 2015

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk...

por Garcia-Pelaez, José, Barbosa-Matos, Rita, Lobo, Silvana, Dias, Alexandre, Garrido, Luzia, Castedo, Sérgio, Sousa, Sónia, Pinheiro, Hugo, Sousa, Liliana, Monteiro, Rita, Maqueda, Joaquin J, Fernandes, Susana, Carneiro, Fátima, Pinto, Nádia, Lemos, Carolina, Pinto, Carla, Teixeira, Manuel R, Aretz, Stefan, Bajalica-Lagercrantz, Svetlana, Balmaña, Judith, Blatnik, Ana, Benusiglio, Patrick R, Blanluet, Maud, Bours, Vincent, Brems, Hilde, Brunet, Joan, Calistri, Daniele, Capellá, Gabriel, Carrera, Sergio, Colas, Chrystelle, Dahan, Karin, de Putter, Robin, Desseignés, Camille, Domínguez-Garrido, Elena, Egas, Conceição, Evans, D Gareth, Feret, Damien, Fewings, Eleanor, Fitzgerald, Rebecca C, Coulet, Florence, Garcia-Barcina, María, Genuardi, Maurizio, Golmard, Lisa, Hackmann, Karl, Hanson, Helen, Holinski-Feder, Elke, Hüneburg, Robert, Krajc, Mateja, Lagerstedt-Robinson, Kristina, Lázaro, Conxi, Ligtenberg, Marjolijn J L, Martínez-Bouzas, Cristina, Merino, Sonia, Michils, Geneviève, Novaković, Srdjan, Patiño-García, Ana, Ranzani, Guglielmina Nadia, Schröck, Evelin, Silva, Inês, Silveira, Catarina, Soto, José L, Spier, Isabel, Steinke-Lange, Verena, Tedaldi, Gianluca, Tejada, María-Isabel, Woodward, Emma R, Tischkowitz, Marc, Hoogerbrugge, Nicoline, Oliveira, Carla
Publicado 2023