Search Results - "Tejada, María Isabel"

Non‐syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies by Tejada, María Isabel, Ibarluzea, Nekane

“…Since the discovery of the FMR1 gene and the clinical and molecular characterization of Fragile X Syndrome in 1991, more than 141 genes have been identified in…”
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The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2) by 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.

“…Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited…”
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A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism by Tejada, María‐Isabel, Elcoroaristizabal, Xabier, Ibarluzea, Nekane, Botella, María‐Pilar, de la Hoz, Ana‐Belén, Ocio, Intzane

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

“…Sotos syndrome is an autosomal dominant disorder characterized by overgrowth, macrocephaly, distinctive facial features and learning disabilities…”
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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) by 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

“…X-linked intellectual disability (XLID) is known to explain up to 10% of the intellectual disability in males. A large number of families in which intellectual…”
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Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis by 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

“…Hereditary spastic paraplegias (HSPs) are a heterogeneous group of genetic disorders with spastic paraparesis as the main clinical feature. Complex forms may…”
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Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer by GUTIERREZ-ENRIQUEZ, Sara, DE LA HOYA, Miguel, TEJADA, Maria-Isabel, CALDES, Trinidad, DIEZ, Orland, MARTINEZ-BOUZAS, Cristina, SANCHEZ DE ABAJO, Ana, RAMON Y CAJAL, Teresa, LLORT, Gemma, BLANCO, Ignacio, BERISTAIN, Elena, DIAZ-RUBIO, Eduardo, ALONSO, Carmen

“…Germ-line mutations in BRCA1 and BRCA2 are responsible for about 30-60% of the hereditary breast and ovarian cancer (HBOC). A large number of point mutations…”
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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability by 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

“…ABSTRACT To identify genetic causes of intellectual disability (ID), we screened a cohort of 986 individuals with moderate to severe ID for variants in 565…”
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Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability by 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

“…X-linked intellectual disability (XLID) is known to contribute up to 10% of intellectual disability (ID) in males and could explain the increased ratio of…”
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Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases by 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

“…The PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately…”
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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 by Villate, Olatz, Ibarluzea, Nekane, Fraile-Bethencourt, Eugenia, Valenzuela, Alberto, Velasco, Eladio A, Grozeva, Detelina, Raymond, F L, Botella, María P, Tejada, María-Isabel

“…Mutations in have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis…”
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Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families by 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

“…Recent reports have shown that mutations in the FANCJ/BRIP1 and FANCN/PALB2 Fanconi Anemia (FA) genes confer a moderate breast cancer risk. Discussion has been…”
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Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer by 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

“…It has been demonstrated that monoallelic PALB2 (Partner and Localizer of BRCA2) gene mutations predispose to familial breast cancer. Some of the families…”
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L-acetylcarnitine for treating fragile X syndrome by Rueda, José-Ramón, Guillén, Virginia, Ballesteros, Javier, Tejada, Maria-Isabel, Solà, Ivan

“…People with fragile X syndrome (FXS) have an intellectual dysfunction that can range from very mild to severe. Symptoms can include speech and language delays…”
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Effect of AGG Interruptions on FMR1 Maternal Transmissions by Villate, Olatz, Ibarluzea, Nekane, Maortua, Hiart, de la Hoz, Ana Belén, Rodriguez-Revenga, Laia, Izquierdo-Álvarez, Silvia, Tejada, María Isabel

“…There are four classes of CGG repeat alleles in the FMR1 gene: normal alleles have up to 44 repeats; patients with Fragile X Syndrome have more than 200…”
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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 by 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

“…Purpose: It is not clear that the published estimates of the breast and ovarian cancer penetrances of mutations in BRCA1 and BRCA2 can be used in genetic…”
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Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers by 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

“…Environmental or lifestyle factors are likely to explain part of the heterogeneity in breast and ovarian cancer risk among BRCA1 and BRCA2 mutation carriers…”
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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 by 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

“…Fragile X syndrome is the most common inherited form of intellectual disability. Here we report on a study based on a collaborative registry, involving 12…”
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A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3 by Tejada, María-Isabel, Martínez-Bouzas, Cristina, García-Ribes, Ainhoa, Larrucea, Susana, Acquadro, Francesco, Cigudosa, Juan-C, Belet, Stefanie, Froyen, Guy, López-Aríztegui, Maria-Asun

“…Multiplex ligation-dependent probe amplification (MLPA) and array- comparative genomic hybridization analysis have been proven to be useful in the…”
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Folic acid for fragile X syndrome by Rueda, José-Ramón, Ballesteros, Javier, Guillen, Virginia, Tejada, Maria-Isabel, Solà, Ivan

“…It has been argued that individuals with fragile X syndrome could have low folate levels in their bodies and that supplementing their dietary intake might…”
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