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Ektodermale Dysplasie-Hautfragilität-Syndrom: zwei neue Fälle mit einer neuartigen Missense-Mutation.
Cuenca-Barrales C, Monserrat-García MT, Domínguez-Cruz JJ, Suñol-Capella M, Zulueta-Dorado T, Fernández R, Mascaró JM, Vicente A, Bernabéu-Wittel J. Cuenca-Barrales C, et al. Among authors: fernandez r. J Dtsch Dermatol Ges. 2021 Apr;19(4):595-597. doi: 10.1111/ddg.14315_g. J Dtsch Dermatol Ges. 2021. PMID: 33861009 German. No abstract available.
Ectodermal dysplasia-skin fragility syndrome: two new cases with a novel missense mutation.
Cuenca-Barrales C, Monserrat-García MT, Domínguez-Cruz JJ, Suñol-Capella M, Zulueta-Dorado T, Fernández R, Mascaró JM, Vicente A, Bernabéu-Wittel J. Cuenca-Barrales C, et al. Among authors: fernandez r. J Dtsch Dermatol Ges. 2021 Apr;19(4):595-597. doi: 10.1111/ddg.14315. Epub 2020 Oct 30. J Dtsch Dermatol Ges. 2021. PMID: 33125806 No abstract available.
Dnmt3b knock-down in enteric precursors reveals a possible mechanism by which this de novo methyltransferase is involved in the enteric nervous system development and the onset of Hirschsprung disease.
Torroglosa A, Villalba-Benito L, Fernández RM, Moya-Jiménez MJ, Antiñolo G, Borrego S. Torroglosa A, et al. Oncotarget. 2017 Nov 16;8(63):106443-106453. doi: 10.18632/oncotarget.22473. eCollection 2017 Dec 5. Oncotarget. 2017. PMID: 29290961 Free PMC article.
Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development.
Villalba-Benito L, López-López D, Torroglosa A, Casimiro-Soriguer CS, Luzón-Toro B, Fernández RM, Moya-Jiménez MJ, Antiñolo G, Dopazo J, Borrego S. Villalba-Benito L, et al. Clin Epigenetics. 2021 Mar 9;13(1):51. doi: 10.1186/s13148-021-01040-6. Clin Epigenetics. 2021. PMID: 33750457 Free PMC article.
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.
Calucho M, Bernal S, Alías L, March F, Venceslá A, Rodríguez-Álvarez FJ, Aller E, Fernández RM, Borrego S, Millán JM, Hernández-Chico C, Cuscó I, Fuentes-Prior P, Tizzano EF. Calucho M, et al. Neuromuscul Disord. 2018 Mar;28(3):208-215. doi: 10.1016/j.nmd.2018.01.003. Epub 2018 Jan 11. Neuromuscul Disord. 2018. PMID: 29433793
2,644 results