Del Rio M - Search Results

1

Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study.

Chiaverini C, Charlesworth A, Fernandez A, Barbarot S, Bessis D, Bodemer C, Bursztejn AC, Cobo AM, Del Rio M, D'Incan M, Labrèze C, Langlet C, Mazereeuw J, Miquel J, Vabres P, Meneguzzi G, Lacour JP. Chiaverini C, et al. Among authors: del rio m. Br J Dermatol. 2014 Apr;170(4):901-6. doi: 10.1111/bjd.12741. Br J Dermatol. 2014. PMID: 24252097

2

Construction of skin equivalents for gene therapy of recessive dystrophic epidermolysis bullosa.

Gache Y, Baldeschi C, Del Rio M, Gagnoux-Palacios L, Larcher F, Lacour JP, Meneguzzi G. Gache Y, et al. Among authors: del rio m. Hum Gene Ther. 2004 Oct;15(10):921-33. doi: 10.1089/hum.2004.15.921. Hum Gene Ther. 2004. PMID: 15585108

3

Sustained phenotypic reversion of junctional epidermolysis bullosa dog keratinocytes: Establishment of an immunocompetent animal model for cutaneous gene therapy.

Spirito F, Capt A, Del Rio M, Larcher F, Guaguere E, Danos O, Meneguzzi G. Spirito F, et al. Among authors: del rio m. Biochem Biophys Res Commun. 2006 Jan 20;339(3):769-78. doi: 10.1016/j.bbrc.2005.10.216. Epub 2005 Nov 22. Biochem Biophys Res Commun. 2006. PMID: 16316622

4

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: del rio m. 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

5

X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.

Hernández-Martín A, Cuadrado-Corrales N, Ciria-Abad S, Arias-Palomo D, Mascaró-Galy JM, Escámez MJ, García M, Del Río M, Torrelo A, González-Sarmiento R. Hernández-Martín A, et al. Among authors: del rio m. Dermatology. 2010;221(2):113-6. doi: 10.1159/000313507. Epub 2010 Jun 4. Dermatology. 2010. PMID: 20523032 Review.

6

Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.

Pasmooij AM, Garcia M, Escamez MJ, Nijenhuis AM, Azon A, Cuadrado-Corrales N, Jonkman MF, Del Rio M. Pasmooij AM, et al. Among authors: del rio m. J Invest Dermatol. 2010 Oct;130(10):2407-11. doi: 10.1038/jid.2010.163. Epub 2010 Jun 24. J Invest Dermatol. 2010. PMID: 20574443 Free article.

7

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: del rio m. Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x. Br J Dermatol. 2011. PMID: 21623745

8

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 MJ, Illera N, Trujillo-Tiebas MJ, Ayuso C, Millán JM, Del Río M. Sanchez-Jimeno C, et al. Among authors: del rio m. Br J Dermatol. 2013 Jan;168(1):226-9. doi: 10.1111/j.1365-2133.2012.11128.x. Epub 2012 Sep 27. Br J Dermatol. 2013. PMID: 22757647 No abstract available.

9

Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.

Charlesworth A, Chiaverini C, Chevrant-Breton J, DelRio M, Diociaiuti A, Dupuis RP, El Hachem M, Le Fiblec B, Sankari-Ho AM, Valhquist A, Wierzbicka E, Lacour JP, Meneguzzi G. Charlesworth A, et al. Br J Dermatol. 2013 Apr;168(4):808-14. doi: 10.1111/bjd.12202. Br J Dermatol. 2013. PMID: 23289980

10

Keratinocyte cell lines derived from severe generalized recessive epidermolysis bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo.

Chamorro C, Almarza D, Duarte B, Llames SG, Murillas R, García M, Cigudosa JC, Espinosa-Hevia L, Escámez MJ, Mencía A, Meana A, García-Escudero R, Moro R, Conti CJ, Del Río M, Larcher F. Chamorro C, et al. Among authors: del rio m. Exp Dermatol. 2013 Sep;22(9):601-3. doi: 10.1111/exd.12203. Exp Dermatol. 2013. PMID: 23947675

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