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Page 1
Gluten-sensitive enteropathy in recessive dystrophic epidermolysis bullosa.
Sacedón R, de Arriba MC, Martínez-Santamaría L, Maseda R, Herráiz-Gil S, Jiménez E, Rosales I, Quintana L, Illera N, García M, Butta N, Fernández-Bello I, Lwin SM, Fernández-Arquero M, León C, McGrath JA, Vicente MÁ, Del Río M, de Lucas R, Sánchez-Ramón S, Escámez MJ. Sacedón R, et al. Among authors: illera n. Br J Dermatol. 2023 Nov 16;189(6):774-776. doi: 10.1093/bjd/ljad313. Br J Dermatol. 2023. PMID: 37655918 No abstract available.
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
García M, Santiago JL, Terrón A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, Illera N, Duarte B, Sánchez-Jimeno C, Llames S, García E, Ayuso C, Martínez-Santamaría L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, Zambruno G, Escámez MJ, Del Río M. García M, et al. Among authors: illera n. Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x. Br J Dermatol. 2011. PMID: 21623745
Beneficial Effect of Systemic Allogeneic Adipose Derived Mesenchymal Cells on the Clinical, Inflammatory and Immunologic Status of a Patient With Recessive Dystrophic Epidermolysis Bullosa: A Case Report.
Maseda R, Martínez-Santamaría L, Sacedón R, Butta N, de Arriba MDC, García-Barcenilla S, García M, Illera N, Pérez-Conde I, Carretero M, Jiménez E, Melen G, Borobia AM, Jiménez-Yuste V, Vicente Á, Del Río M, de Lucas R, Escámez MJ. Maseda R, et al. Among authors: illera n. Front Med (Lausanne). 2020 Nov 26;7:576558. doi: 10.3389/fmed.2020.576558. eCollection 2020. Front Med (Lausanne). 2020. PMID: 33324660 Free PMC article.
Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants.
Martínez-Santamaría L, Maseda R, de Arriba MDC, Membrilla JA, Sigüenza AI, Mascías J, García M, Quintana L, Esteban-Rodríguez I, Hernández-Fernández CP, Illera N, Duarte B, Guerrero-Aspizúa S, Woodley DT, Del Río M, de Lucas R, Larcher F, Escámez MJ. Martínez-Santamaría L, et al. Among authors: illera n. JAMA Dermatol. 2022 Apr 1;158(4):439-443. doi: 10.1001/jamadermatol.2022.0112. JAMA Dermatol. 2022. PMID: 35234827 Free PMC article.
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, Del Rio M. Escámez MJ, et al. Among authors: illera n. Br J Dermatol. 2010 Jul;163(1):155-61. doi: 10.1111/j.1365-2133.2010.09713.x. Epub 2010 Feb 22. Br J Dermatol. 2010. PMID: 20184583
Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells.
Mencía Á, Chamorro C, Bonafont J, Duarte B, Holguin A, Illera N, Llames SG, Escámez MJ, Hausser I, Del Río M, Larcher F, Murillas R. Mencía Á, et al. Among authors: illera n. Mol Ther Nucleic Acids. 2018 Jun 1;11:68-78. doi: 10.1016/j.omtn.2018.01.009. Epub 2018 Jan 31. Mol Ther Nucleic Acids. 2018. PMID: 29858091 Free PMC article.
18 results