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Page 1
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J. Pascual-Alonso A, et al. Among authors: tejada mi. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567
Infectious and immunologic phenotype of MECP2 duplication syndrome.
Bauer M, Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H. Bauer M, et al. Among authors: tejada mi. J Clin Immunol. 2015 Feb;35(2):168-81. doi: 10.1007/s10875-015-0129-5. Epub 2015 Feb 27. J Clin Immunol. 2015. PMID: 25721700 Free PMC article.
Correction: Chaparro et al. Incidence, Clinical Characteristics and Management of Inflammatory Bowel Disease in Spain: Large-Scale Epidemiological Study. J. Clin. Med. 2021, 10, 2885.
Chaparro M, Garre A, Núñez Ortiz A, Diz-Lois Palomares MT, Rodríguez C, Riestra S, Vela M, Benítez JM, Fernández Salgado E, Sánchez Rodríguez E, Hernández V, Ferreiro-Iglesias R, Ponferrada Díaz Á, Barrio J, Huguet JM, Sicilia B, Martín-Arranz MD, Calvet X, Ginard D, Alonso-Abreu I, Fernández-Salazar L, Varela Trastoy P, Rivero M, Vera-Mendoza I, Vega P, Navarro P, Sierra M, Cabriada JL, Aguas M, Vicente R, Navarro-Llavat M, Echarri A, Gomollón F, Guerra Del Río E, Piñero C, Casanova MJ, Spicakova K, Ortiz de Zarate J, Torrella Cortés E, Gutiérrez A, Alonso-Galán H, Hernández-Martínez Á, Marrero JM, Lorente Poyatos R, Calafat M, Martí Romero L, Robledo P, Bosch O, Jiménez N, Esteve Comas M, Duque JM, Fuentes Coronel AM, Josefa Sampedro M, Sesé Abizanda E, Herreros Martínez B, Pozzati L, Fernández Rosáenz H, Crespo Suarez B, López Serrano P, Lucendo AJ, Muñoz Vicente M, Bermejo F, Ramírez Palanca JJ, Menacho M, Carmona A, Camargo R, Torra Alsina S, Maroto N, Nerín de la Puerta J, Castro E, Marín-Jiménez I, Botella B, Sapiña A, Cruz N, Forcelledo JLF, Bouhmidi A, Castaño-Milla C, Opio V, Nicolás I, Kutz M, Abraldes Bechiarelli A, Gordillo J, Ber Y, Torres Domínguez Y, Novella Durán … See abstract for full author list ➔ Chaparro M, et al. J Clin Med. 2022 Sep 30;11(19):5816. doi: 10.3390/jcm11195816. J Clin Med. 2022. PMID: 36233844 Free PMC article.
Incidence, Clinical Characteristics and Management of Inflammatory Bowel Disease in Spain: Large-Scale Epidemiological Study.
Chaparro M, Garre A, Núñez Ortiz A, Diz-Lois Palomares MT, Rodríguez C, Riestra S, Vela M, Benítez JM, Fernández Salgado E, Sánchez Rodríguez E, Hernández V, Ferreiro-Iglesias R, Ponferrada Díaz Á, Barrio J, Huguet JM, Sicilia B, Martín-Arranz MD, Calvet X, Ginard D, Alonso-Abreu I, Fernández-Salazar L, Varela Trastoy P, Rivero M, Vera-Mendoza I, Vega P, Navarro P, Sierra M, Cabriada JL, Aguas M, Vicente R, Navarro-Llavat M, Echarri A, Gomollón F, Guerra Del Río E, Piñero C, Casanova MJ, Spicakova K, Ortiz de Zarate J, Torrella Cortés E, Gutiérrez A, Alonso-Galán H, Hernández-Martínez Á, Marrero JM, Lorente Poyatos R, Calafat M, Martí Romero L, Robledo P, Bosch O, Jiménez N, Esteve Comas M, Duque JM, Fuentes Coronel AM, Josefa Sampedro M, Sesé Abizanda E, Herreros Martínez B, Pozzati L, Fernández Rosáenz H, Crespo Suarez B, López Serrano P, Lucendo AJ, Muñoz Vicente M, Bermejo F, Ramírez Palanca JJ, Menacho M, Carmona A, Camargo R, Torra Alsina S, Maroto N, Nerín de la Puerta J, Castro E, Marín-Jiménez I, Botella B, Sapiña A, Cruz N, Forcelledo JLF, Bouhmidi A, Castaño-Milla C, Opio V, Nicolás I, Kutz M, Abraldes Bechiarelli A, Gordillo J, Ber Y, Torres Domínguez Y, Novella Durán … See abstract for full author list ➔ Chaparro M, et al. J Clin Med. 2021 Jun 29;10(13):2885. doi: 10.3390/jcm10132885. J Clin Med. 2021. PMID: 34209680 Free PMC article.
EpidemIBD: rationale and design of a large-scale epidemiological study of inflammatory bowel disease in Spain.
Chaparro M, Barreiro-de Acosta M, Benítez JM, Cabriada JL, Casanova MJ, Ceballos D, Esteve M, Fernández H, Ginard D, Gomollón F, Lorente R, Nos P, Riestra S, Rivero M, Robledo P, Rodríguez C, Sicilia B, Torrella E, Garre A, García-Esquinas E, Rodríguez-Artalejo F, Gisbert JP; EpidemIBD study group of GETECCU. Chaparro M, et al. Therap Adv Gastroenterol. 2019 May 21;12:1756284819847034. doi: 10.1177/1756284819847034. eCollection 2019. Therap Adv Gastroenterol. 2019. PMID: 31205485 Free PMC article.
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.
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C. Garcia-Pelaez J, et al. Among authors: tejada mi. Lancet Oncol. 2023 Jan;24(1):91-106. doi: 10.1016/S1470-2045(22)00643-X. Epub 2022 Nov 24. Lancet Oncol. 2023. PMID: 36436516 Free PMC article.
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet AC, Germanaud D, Tejada MI, Kroes HY, Nievelstein RAJ, Brimble E, Ruzhnikov M, Claverie-Martin F, Szczepańska M, Ćuk M, Latta F, Konrad M, Martínez-Cruz LA, Bindels RJM, Hoenderop JGJ, Schlingmann KP, de Baaij JHF. Franken GAC, et al. Among authors: tejada mi. Hum Mutat. 2021 Apr;42(4):473-486. doi: 10.1002/humu.24182. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33600043 Free PMC article.
Effect of AGG Interruptions on FMR1 Maternal Transmissions.
Villate O, Ibarluzea N, Maortua H, de la Hoz AB, Rodriguez-Revenga L, Izquierdo-Álvarez S, Tejada MI. Villate O, et al. Among authors: tejada mi. Front Mol Biosci. 2020 Jul 14;7:135. doi: 10.3389/fmolb.2020.00135. eCollection 2020. Front Mol Biosci. 2020. PMID: 32766278 Free PMC article.
78 results