The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation
Escámez, M.J., García, M., Cuadrado-Corrales, N., Llames, S.G., Charlesworth, A., De Luca, N., Illera, N., Sánchez-Jimeno, C., Holguín, A., Duarte, B., Trujillo-Tiebas, M.J., Vicario, J.L., Santiago, J.L., Hernández-Martín, A., Torrelo, A., Castiglia, D., Ayuso, C., Larcher, F., Jorcano, J.L., Meana, A., Meneguzzi, G., Zambruno, G., Del Rio, M.
Published in British journal of dermatology (1951) (01.07.2010)
Published in British journal of dermatology (1951) (01.07.2010)
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Journal Article
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex
García, M., Santiago, J.L., Terrón, A., Hernández-Martín, A., Vicente, A., Fortuny, C., De Lucas, R., López, J.C., 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, M.J., Del Río, M.
Published in British journal of dermatology (1951) (01.09.2011)
Published in British journal of dermatology (1951) (01.09.2011)
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Journal Article
Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population
Sanchez-Jimeno, C., Cuadrado-Corrales, N., Aller, E., García, M., Escámez, M.J., Illera, N., Trujillo-Tiebas, M.J., Ayuso, C., Millán, J.M., Del Río, M.
Published in British journal of dermatology (1951) (01.01.2013)
Published in British journal of dermatology (1951) (01.01.2013)
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Journal Article
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis Bullosa, Distrophic
Cuadrado-Corrales, Natividad, García, M, Escámez, M J, Sánchez-Jimeno, C, Illera, N, López-Martínez, M A, Trujillo-Tieba, M J, Ayuso, C, Del Río, M
Published in Human genetics (01.01.2010)
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Published in Human genetics (01.01.2010)
Journal Article
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica
García, Marta, Escamez, M J, Cuadrado-Corrales, N, Illera, N, Sánchez Jimeno, C, Vélez, C, Trujillo-Tiebas, M J, Ayuso, C, Del Río, M
Published in Human genetics (01.01.2010)
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Published in Human genetics (01.01.2010)
Journal Article
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica
García, Marta, Escamez, M J, Cuadrado-Corrales, N, Sánchez-Jimeno, C, Illera, N, López-Martínez, M A, Trujillo-Tiebas, M J, Ayuso, C, Del Río, M
Published in Human genetics (01.01.2010)
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Published in Human genetics (01.01.2010)
Journal Article
128 Characteristics of anemia and its relationship with disease severity in a Spanish cohort of 84 patients with recessive dystrophic epidermolysis bullosa
Quintana, L., Maseda, R., Illera, N., Crespo, M., Butta, N., Zuluaga, P., Buño, A., De Lucas, R., Escámez, M., Sacedón, R.
Published in Journal of investigative dermatology (01.12.2022)
Published in Journal of investigative dermatology (01.12.2022)
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Journal Article
342 The disruption of lipid metabolism and the role of leptin in the pathophysiology of Severe Recessive Dystrophic Epidermolysis Bullosa
Herraiz-Gil, S., Arriba, M., Martínez-Santamaría, L., Maseda, R., Illera, N., Yanes, O., Lwin, S., McGrath, J.A., Escámez, M., Leon, C.
Published in Journal of investigative dermatology (01.12.2022)
Published in Journal of investigative dermatology (01.12.2022)
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Journal Article
169 Olfactory receptors in skin. Localization, specific expression pattern and their potential role in wound healing
de Arriba, M., Carretero, M., Illera, N., Holguin, A., Duarte, B., Llames, S., Meana, Á., Garcia-Martín, A., Escamez, M., Río, M del
Published in Journal of investigative dermatology (01.10.2017)
Published in Journal of investigative dermatology (01.10.2017)
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Journal Article
Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population: Correspondence
Sanchez-Jimeno, C., Cuadrado-Corrales, N., Aller, E., García, M., Escámez, M.J., Illera, N., Trujillo-Tiebas, M.J., Ayuso, C., Millán, J.M., Del Río, M.
Published in British journal of dermatology (1951) (01.01.2013)
Published in British journal of dermatology (1951) (01.01.2013)
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Journal Article
Differential Features Between Chronic Skin Inflammatory Diseases Revealed in Skin-Humanized Psoriasis and Atopic Dermatitis Mouse Models
Carretero, M, Guerrero-Aspizua, S, Illera, N, Galvez, V, Navarro, M, García-García, F, Dopazo, J, Jorcano, J L, Larcher, F, Del Rio, M
Published in Journal of investigative dermatology (23.09.2015)
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Published in Journal of investigative dermatology (23.09.2015)
Journal Article
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex: Novel KRT14 recessive mutations in Spanish families
García, M., Santiago, J.L., Terrón, A., Hernández-Martín, A., Vicente, A., Fortuny, C., De Lucas, R., López, J.C., 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, M.J., Del Río, M.
Published in British journal of dermatology (1951) (01.09.2011)
Published in British journal of dermatology (1951) (01.09.2011)
Get full text
Journal Article
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation: Highly recurrent COL7A1 mutation in Spanish DEB patients
Escámez, M.J., García, M., Cuadrado-Corrales, N., Llames, S.G., Charlesworth, A., De Luca, N., Illera, N., Sánchez-Jimeno, C., Holguín, A., Duarte, B., Trujillo-Tiebas, M.J., Vicario, J.L., Santiago, J.L., Hernández-Martín, A., Torrelo, A., Castiglia, D., Ayuso, C., Larcher, F., Jorcano, J.L., Meana, A., Meneguzzi, G., Zambruno, G., Del Rio, M.
Published in British journal of dermatology (1951) (01.07.2010)
Published in British journal of dermatology (1951) (01.07.2010)
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Journal Article
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica
Escámez, María José, Cuadrado-Corrales, N, García, M, Sanchez-Jimeno, C, Illera, N, López-Martínez, M A, Trujillo-Tiebas, M J, Ayuso, C, Del Río, M
Published in Human genetics (01.01.2010)
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Published in Human genetics (01.01.2010)
Journal Article
Ebola Outbreak Killed 5000 Gorillas
Bermejo, Magdalena, Rodríguez-Teijeiro, José Domingo, Illera, Germán, Barroso, Alex, Vilà, Carles, Walsh, Peter D
Published in Science (American Association for the Advancement of Science) (08.12.2006)
Published in Science (American Association for the Advancement of Science) (08.12.2006)
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Journal Article