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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: escamez mj. 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: escamez mj. Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x. Br J Dermatol. 2011. PMID: 21623745
Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.
Chacón-Solano E, León C, Díaz F, García-García F, García M, Escámez MJ, Guerrero-Aspizua S, Conti CJ, Mencía Á, Martínez-Santamaría L, Llames S, Pévida M, Carbonell-Caballero J, Puig-Butillé JA, Maseda R, Puig S, de Lucas R, Baselga E, Larcher F, Dopazo J, Del Río M. Chacón-Solano E, et al. Among authors: escamez mj. Br J Dermatol. 2019 Sep;181(3):512-522. doi: 10.1111/bjd.17698. Epub 2019 Apr 15. Br J Dermatol. 2019. PMID: 30693469 Free PMC article.
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: escamez mj. 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: escamez mj. 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. 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
Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years' experience of a reference centre in Spain.
Castelo B, Viñal D, Maseda R, Ostios L, Sánchez D, García-Salvatierra B, Escámez MJ, Martínez-Santamaría L, Del Río M, Mora-Rillo M, Vilches Y, Beato MJ, López Gutiérrez JC, Romero N, Santos C, Miranda J, de Lucas R. Castelo B, et al. Among authors: escamez mj. Clin Transl Oncol. 2019 Nov;21(11):1573-1577. doi: 10.1007/s12094-019-02073-3. Epub 2019 Mar 12. Clin Transl Oncol. 2019. PMID: 30864020
Natural Occurrence of Autoantibodies against Basement Membrane Proteins in Epidermolysis Bullosa.
Gostyński A, Diercks GFH, Escamez MJ, Chandran NS, de Lucas R, Garcia-Martin A, Del Rio M, Bremer J, Bolling MC, Meana A, Llames SG, Schmidt E, Ludwig R, Jonkman MF, Pas HH, Pasmooij AMG. Gostyński A, et al. Among authors: escamez mj. J Invest Dermatol. 2022 Jul;142(7):2014-2019.e3. doi: 10.1016/j.jid.2021.10.030. Epub 2021 Nov 26. J Invest Dermatol. 2022. PMID: 34843678 Free article. No abstract available.
51 results