תוצאות חיפוש - Tejada, Maria-Isabel

Systematic review of pharmacological treatments in fragile X syndrome מאת Rueda, Jose-Ramon, Ballesteros, Javier, Tejada, Maria-Isabel

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RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome מאת Villate, Olatz, Maortua, Hiart, Tejada, María-Isabel, Llano-Rivas, Isabel

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Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2 מאת Beristain, Elena, Ibáñez, Berta, Vergara, Itziar, Martínez-Bouzas, Cristina, Guerra, Isabel, Tejada, Maria Isabel

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

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3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases מאת de la Hoz, Ana Belén, Maortua, Hiart, García-Rives, Ainhoa, Martínez-González, María Jesús, Ezquerra, Maitane, Tejada, María-Isabel

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Effect of AGG Interruptions on FMR1 Maternal Transmissions מאת Villate, Olatz, Ibarluzea, Nekane, Maortua, Hiart, de la Hoz, Ana Belén, Rodriguez-Revenga, Laia, Izquierdo-Álvarez, Silvia, Tejada, María Isabel

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Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes מאת Madrigal, Irene, Xunclà, Mar, Tejada, Maria Isabel, Martínez, Francisco, Fernández-Carvajal, Isabel, Pérez-Jurado, Luís Alberto, Rodriguez-Revenga, Laia, Milà, Montserrat

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Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI) מאת Sherman, Stephanie L, Curnow, Eliza C, Easley, Charles A, Jin, Peng, Hukema, Renate K, Tejada, Maria Isabel, Willemsen, Rob, Usdin, Karen

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Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models מאת García-Alegría, Eva, Ibáñez, Berta, Mínguez, Mónica, Poch, Marisa, Valiente, Alberto, Sanz-Parra, Arantza, Martinez-Bouzas, Cristina, Beristain, Elena, Tejada, Maria-Isabel

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

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

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

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

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Genome-wide Linkage Scan Reveals Three Putative Breast-Cancer-Susceptibility Loci מאת Rosa-Rosa, Juan Manuel, Pita, Guillermo, Urioste, Miguel, Llort, Gemma, Brunet, Joan, Lázaro, Conxi, Blanco, Ignacio, Ramón y Cajal, Teresa, Díez, Orland, de la Hoya, Miguel, Caldés, Trinidad, Tejada, Maria-Isabel, González-Neira, Anna, Benítez, Javier

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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 מאת 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

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

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

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

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

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Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome מאת 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

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