Genética y patofisiología neurosensorial
Buscador de publicaciones
Sólo se han incluido artículos originales, editoriales y revisiones.
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Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA.
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
HUMAN MUTATION . 32(7): 825-834. Nº de citas: 60
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del Castillo, Francisco J., del Castillo, Ignacio.
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment
FRONTIERS IN BIOSCIENCE-LANDMARK . 16: 3252-3274. Nº de citas: 37
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Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I.
Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss
AMERICAN JOURNAL OF HUMAN GENETICS . 88(5): 621-627. Nº de citas: 56
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Valero MC, Martín Y, Hernández-Imaz E, Marina Hernández A, Meleán G, Valero AM, Javier Rodríguez-Álvarez F, Tellería D, Hernández-Chico C.
A Highly Sensitive Genetic Protocol to Detect NF1 Mutations
JOURNAL OF MOLECULAR DIAGNOSTICS . 13(2): 113-122. Nº de citas: 64
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Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH.
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
CLINICAL GENETICS . 78(3): 267-274. Nº de citas: 57
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Melean G, Hernández AM, Valero MC, Hernández-Imaz E, Martín Y, Hernández-Chico C.
Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis
Bmc Cancer . 10: 407-407. Nº de citas: 3
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Kokotas H, Grigoriadou M, Villamar M, Giannoulia-Karantana A, del Castillo I, Petersen MB.
Hypothesizing an Ancient Greek Origin of the GJB2 35delG Mutation: Can Science Meet History?
GENETIC TESTING AND MOLECULAR BIOMARKERS . 14(2): 183-187. Nº de citas: 10
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Blanco-Kelly F, Tarilonte M, Villamar M, Damián A, Tamayo A, Moreno-Pelayo MA, Ayuso C, Cortón M.
Genetics and epidemiology of aniridia: Updated guidelines for genetic study.
Archivos de la Sociedad Espanola de Oftalmologia . : .
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Pampín Martínez MM, Rodríguez-Laguna L, Gómez García E, Cebrián Carretero JL, González Otero T, López Gutiérrez JC.
Genetic profile of arteriovenous anomalies of the head and neck: Implications in progression and therapeutic approaches.
JOURNAL OF PEDIATRIC SURGERY . : .
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Pérez-Úbeda MJ, Arribas P, Gimeno García-Andrade MD, Garvín L, Rodríguez A, Ponz V, Ballester S, Fernández S, Fuentes-Ferrer M, Ascaso A, Portolés A, Marco F.
" Adjuvant arthroscopy does not improve the functional outcome of volar locking plate for distal radius fractures. A randomized clinical trial.".
ARTHROSCOPY-THE JOURNAL OF ARTHROSCOPIC AND RELATED SURGERY . : .
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López-Manzaneda S, Mencía Á, Bonafont J, Bassons-Bascuñana A, García M, Nyström A, Duarte B, Llames S, Murillas R, Modamio-Hoybjor S, Morín M, Soletto L, Escamez MJ, Moreno-Pelayo MA, Rio MD, Larcher F.
Safe and Efficacious Permanent Removal of Large COL7A1 Exons for Gene Reframing as a Reliable Therapeutic Strategy for Recessive Dystrophic Epidermolysis Bullosa.
HUM GENE THER . : .