Søgeresultater - Tejada, Maria-Isabel

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  1. 1
    Systematic review of pharmacological treatments in fragile X syndrome

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

    Udgivet 2009
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  2. 2
    RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome

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

    Udgivet 2022
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  3. 3
    Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2

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

    Udgivet 2010
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  4. 4
    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

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

    Udgivet 2016
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  5. 5
    3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

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

    Udgivet 2015
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  6. 6
    Effect of AGG Interruptions on FMR1 Maternal Transmissions

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

    Udgivet 2020
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  7. 7
    Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

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

    Udgivet 2011
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  8. 8
    Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)

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

    Udgivet 2014
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  9. 9
    Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models

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

    Udgivet 2007
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  10. 10
    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

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

    Udgivet 2018
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  11. 11
    Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

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

    Udgivet 2019
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  12. 12
    Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability

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

    Udgivet 2020
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  13. 13
    CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

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

    Udgivet 2012
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  14. 14
    Genome-wide Linkage Scan Reveals Three Putative Breast-Cancer-Susceptibility Loci

    Genome-wide Linkage Scan Reveals Three Putative Breast-Cancer-Susceptibility Loci af 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

    Udgivet 2009
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  15. 15
    Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

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

    Udgivet 2014
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  16. 16
    Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

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

    Udgivet 2020
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  17. 17
    Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

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

    Udgivet 2015
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  18. 18
    Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

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

    Udgivet 2013
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  19. 19
    The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

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

    Udgivet 2021
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  20. 20
    Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

    Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome af 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

    Udgivet 2015
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