Publications by authors named "Maria Isabel Tejada"

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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 Syndromes.
José Garcia-Pelaez, Rita Barbosa-Matos, Silvana Lobo, Alexandre Dias, Luzia Garrido, María-Isabel Tejada

Lancet Oncol· January 2023

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

Front Pediatr· February 2022

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The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Gijs A C Franken, Dominik Müller, Cyril Mignot, Boris Keren, Jonathan Lévy, María-Isabel Tejada

Hum Mutat· April 2021

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

Front Mol Biosci· July 2020

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

Clin Genet· May 2020

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Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome.
Maria Isabel Alvarez-Mora, Cristina Santos, Lidia Carreño-Gago, Irene Madrigal, Maria Isabel Tejada

Mitochondrion· May 2020

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Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.
Sergio Aguilera-Albesa, Ana Belén de la Hoz, Nekane Ibarluzea, Andrés R Ordóñez-Castillo, Olivia Busto-Crespo, María Isabel Tejada

Front Neurol· February 2020

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Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Nekane Ibarluzea, Ana Belén de la Hoz, Olatz Villate, Isabel Llano, Intzane Ocio, María-Isabel Tejada

Genes (Basel)· January 2020

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Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the Gene Found in a Large Spanish Basque Family (MRX82).
María Isabel Tejada, Olatz Villate, Nekane Ibarluzea, Ana Belén de la Hoz, Cristina Martínez-Bouzas

Front Genet· October 2019

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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.
María-Isabel Tejada, Xabier Elcoroaristizabal, Nekane Ibarluzea, María-Pilar Botella, Ana-Belén de la Hoz

Clin Genet· February 2019

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Functional Analyses of a Novel Splice Variant in the Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.
Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A Velasco, María-Isabel Tejada

Front Genet· January 2018

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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Roger L Milne, Karoline B Kuchenbaecker, Kyriaki Michailidou, Jonathan Beesley, Siddhartha Kar, Maria-Isabel Tejada

Nat Genet· December 2017

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Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.
Izaskun Rubio, Eduardo Ibáñez-Feijoo, Leire Andrés, Elena Aguirre, Judith Balmaña, Maria Isabel Tejada

Oncology· January 2017

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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.
Sonia Merino, Nekane Ibarluzea, Hiart Maortua, Begoña Prieto, Idoia Rouco, Maria-Isabel Tejada

Genes (Basel)· October 2016

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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, Maria-Isabel Tejada, Jozef Gecz

Hum Mutat· December 2015

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

Case Rep Genet· June 2015

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L-acetylcarnitine for treating fragile X syndrome.
José-Ramón Rueda, Virginia Guillén, Javier Ballesteros, Maria-Isabel Tejada, Ivan Solà

Cochrane Database Syst Rev· May 2015

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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
Timothy R Rebbeck, Nandita Mitra, Fei Wan, Olga M Sinilnikova, Sue Healey, Maria-Isabel Tejada

JAMA· April 2015

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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.
María-Isabel Tejada, Guillermo Glover, Francisco Martínez, Miriam Guitart, Yolanda de Diego-Otero

Biomed Res Int· February 2015

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Infectious and immunologic phenotype of MECP2 duplication syndrome.
Michael Bauer, Uwe Kölsch, Renate Krüger, Nadine Unterwalder, Karin Hameister, Maria Isabel Tejada

J Clin Immunol· February 2015

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

J Neurodev Disord· August 2014

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Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.
Ana Blanco, Miguel de la Hoya, Ana Osorio, Orland Diez, María Dolores Miramar, María-Isabel Tejada

PLoS One· March 2014

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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).
Hiart Maortua, Cristina Martínez-Bouzas, Ainhoa García-Ribes, María-Jesus Martínez, Encarna Guillen, María-Isabel Tejada

J Mol Diagn· September 2013

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Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration.
Alberto Plaja, Elisabet Lloveras, Cristina Martinez-Bouzas, Beatriz Barreña, Miguel Del Campo, Maria-Isabel Tejada

Am J Med Genet A· September 2013

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CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.
Hiart Maortua, Cristina Martínez-Bouzas, María-Teresa Calvo, Maria-Rosario Domingo, Feliciano Ramos, María-Isabel Tejada

BMC Med Genet· August 2012

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