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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA. Bijlsma EK, et al. Among authors: minguez m. Eur J Med Genet. 2012 Jun;55(6-7):404-13. doi: 10.1016/j.ejmg.2012.02.009. Epub 2012 Mar 29. Eur J Med Genet. 2012. PMID: 22522176 Free PMC article.
Gene symbol: MECP2. Disease: Rett syndrome (atypical).
Penagarikano O, Martinez-Bouzas C, Mínguez M, Sanz-Parra A, García-Alegría E, Beristain E, Tejada MI. Penagarikano O, et al. Among authors: minguez m. Hum Genet. 2005 Dec;118(3-4):547. Hum Genet. 2005. PMID: 16521306 No abstract available.
Risk of cognitive impairment in female premutation carriers of fragile X premutation: analysis by means of robust segmented linear regression models.
Mínguez M, Ibáñez B, Ribate MP, Ramos F, García-Alegría E, Fernández-Rivas A, Ruiz-Parra E, Poch M, Alonso A, Martinez-Bouzas C, Beristain E, Tejada MI. Mínguez M, et al. Am J Med Genet B Neuropsychiatr Genet. 2009 Mar 5;150B(2):262-70. doi: 10.1002/ajmg.b.30803. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18563710
Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry.
Guerra I, Barros F, Chaparro M, Benítez JM, Martín-Arranz MD, de Francisco R, Piqueras M, de Castro L, Carbajo AY, Bermejo F, Mínguez M, Gutiérrez A, Mesonero F, Cañete F, González-Muñoza C, Calvo M, Sicilia B, Alfambra E, Rivero M, Lucendo AJ, Tardillo CA, Almela P, Bujanda L, van Domselaar M, Ramos L, Fernández Sánchez M, Hinojosa E, Verdejo C, Gimenez A, Rodríguez-Lago I, Manceñido N, Pérez Calle JL, Moreno MDP, Delgado-Guillena PG, Antolín B, Ramírez de la Piscina P, Casanova MJ, Soto Escribano P, Martín Arranz E, Pérez-Martínez I, Mena R, García Morales N, Granja A, Boscá Watts MM, Francés R, Fernández C, Calafat M, Roig-Ramos C, Vera MI, Carracedo Á, Domènech E, Gisbert JP; ENEIDA Project of GETECCU. Guerra I, et al. Among authors: minguez m. Dig Dis. 2024;42(3):257-264. doi: 10.1159/000537782. Epub 2024 Mar 8. Dig Dis. 2024. PMID: 38452742
Clinical and treatment outcomes of a second subcutaneous or intravenous anti-TNF in patients with ulcerative colitis treated with two consecutive anti-TNF agents: data from the ENEIDA registry.
Calafat M, Torres P, Tosca-Cuquerella J, Sánchez-Aldehuelo R, Rivero M, Iborra M, González-Vivo M, Vera I, de Castro L, Bujanda L, Barreiro-de Acosta M, González-Muñoza C, Calvet X, Benítez JM, Llorente-Barrio M, Surís G, Cañete F, Arias-García L, Monfort D, Castaño-García A, Garcia-Alonso FJ, Huguet JM, Marín-Jímenez I, Lorente R, Martín-Cardona A, Ferrer JÁ, Camo P, Gisbert JP, Pajares R, Gomollón F, Castro-Poceiro J, Morales-Alvarado J, Llaó J, Rodríguez A, Rodríguez C, Pérez-Galindo P, Navarro M, Jiménez-García N, Carrillo-Palau M, Blázquez-Gómez I, Sesé E, Almela P, Ramírez de la Piscina P, Taxonera C, Rodríguez-Lago I, Cabrinety L, Vela M, Mínguez M, Mesonero F, García MJ, Aguas M, Márquez L, Silva Porto M, Pineda JR, García-Etxebarría K, Bertoletti F, Brunet E, Mañosa M, Domènech E. Calafat M, et al. Among authors: minguez m. Therap Adv Gastroenterol. 2024 Jan 5;17:17562848231221713. doi: 10.1177/17562848231221713. eCollection 2024. Therap Adv Gastroenterol. 2024. PMID: 38187926 Free PMC article.
[Real-world experience with mild-moderate COVID-19 therapies in kidney transplant patients: How to treat patients with chronic kidney disease from now on?].
Alonso M, Villanego F, Vigara LA, Rodríguez ME, Eady M, García A, Mínguez MC, Montero ME, Segurado O, García T, Mazuecos A. Alonso M, et al. Among authors: minguez mc. Nefrologia. 2023 Jun 22. doi: 10.1016/j.nefro.2023.06.007. Online ahead of print. Nefrologia. 2023. PMID: 37366400 Free PMC article. Spanish. No abstract available.
166 results