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Items: 10


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.

Merino S, Ibarluzea N, Maortua H, Prieto B, Rouco I, López-Aríztegui MA, Tejada MI.

Genes (Basel). 2016 Oct 21;7(10). pii: E90.


Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.

Rubio I, Ibáñez-Feijoo E, Andrés L, Aguirre E, Balmaña J, Blay P, Llort G, González-Santiago S, Maortua H, Tejada MI, Martinez-Bouzas C.

Oncology. 2016;91(3):171-6. doi: 10.1159/000447972.


The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

Schönewolf-Greulich B, Tejada MI, Stephens K, Hadzsiev K, Gauthier J, Brøndum-Nielsen K, Pfundt R, Ravn K, Maortua H, Gener B, Martínez-Bouzas C, Piton A, Rouleau G, Clayton-Smith J, Kleefstra T, Bisgaard AM, Tümer Z.

Clin Genet. 2016 Jun;89(6):733-8. doi: 10.1111/cge.12769.


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

de la Hoz AB, Maortua H, García-Rives A, Martínez-González MJ, Ezquerra M, Tejada MI.

Case Rep Genet. 2015;2015:876348. doi: 10.1155/2015/876348.


Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.

Tejada MI, Glover G, Martínez F, Guitart M, de Diego-Otero Y, Fernández-Carvajal I, Ramos FJ, Hernández-Chico C, Pintado E, Rosell J, Calvo MT, Ayuso C, Ramos-Arroyo MA, Maortua H, Milà M.

Biomed Res Int. 2014;2014:195793. doi: 10.1155/2014/195793.


MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

Maortua H, Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR, Calvo MT, Guitart M, Gabau E, Botella MP, Gener B, Rubio I, López-Aríztegui MA, Tejada MI.

J Mol Diagn. 2013 Sep;15(5):723-9. doi: 10.1016/j.jmoldx.2013.05.002.


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

Maortua H, Martínez-Bouzas C, Calvo MT, Domingo MR, Ramos F, García-Ribes A, Martínez MJ, López-Aríztegui MA, Puente N, Rubio I, Tejada MI.

BMC Med Genet. 2012 Aug 6;13:68. doi: 10.1186/1471-2350-13-68.


Impact of acute otitis media pathogen shifts on the clinical efficacy of several antibiotics: a therapeutic outcomes model.

Canut A, Martin-Herrero JE, Maortua H, Labora A, Isla A, Rodriguez-Gascon A.

J Chemother. 2009 Aug;21(4):408-13.


[Relationship between in-hospital bacterial resistance and antimicrobial use over a 13-year period].

Maortua H, Canut A, Ibáñez B, Martínez D, de Domingo MA, Labora A.

Enferm Infecc Microbiol Clin. 2009 Oct;27(8):441-8. doi: 10.1016/j.eimc.2008.09.017. Spanish.

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