Ayuso, Carmen

Publishing since 1987 (Dinosaur)

Has published 151 publications in 24 years

Number of publications published per year by Ayuso, Carmen. (Source : PubMed)

Distribution of publications types for Ayuso, Carmen. (Source : PubMed)
(a publication can be of different types, so total may exceed publications count)

Recent publications

•  Nikopoulos K, Gilissen C, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EA, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MA, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FP, Collin RW. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.  Am. J. Hum. Genet.  2010;86;2  
•  Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.  Nat. Genet.  2010;42;2  
•  Escámez MJ, Cuadrado-Corrales N, García M, Sanchez-Jimeno C, Illera N, López-Martínez MA, Trujillo-Tiebas MJ, Ayuso C, Del Río M. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.  Hum. Genet.  2010;127;1  
•  Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Garcia-Hoyos M, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C. Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.  Hum. Genet.  2010;127;1  
•  Vallespin E, Avila-Fernandez A, Velez-Monsalve C, Almoguera B, Martinez-Garcia M, Gomez-Dominguez B, Gonzalez-Roubaud C, Cantalapiedra D, Trujillo-Tiebas MJ, Ayuso C. Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.  Hum. Genet.  2010;127;1  
•  García M, Escamez MJ, Cuadrado-Corrales N, Sánchez-Jimeno C, Illera N, López-Martínez MA, Trujillo-Tiebas MJ, Ayuso C, Del Río M. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.  Hum. Genet.  2010;127;1  
•  García M, Escamez MJ, Cuadrado-Corrales N, Illera N, Sánchez Jimeno C, Vélez C, Trujillo-Tiebas MJ, Ayuso C, Del Río M. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.  Hum. Genet.  2010;127;1  
•  Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Garcia-Hoyos M, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C. Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.  Hum. Genet.  2010;127;1  
•  Vallespin E, Avila-Fernandez A, Almoguera B, Cantalapiedra D, Garcia-Hoyos M, Riveiro-Alvarez R, Aguirre-Lamban J, Bustamante-Aragones A, Trujillo-Tiebas MJ, Ayuso C. Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA).  Hum. Genet.  2010;127;1  
•  Cuadrado-Corrales N, García M, Escámez MJ, Sánchez-Jimeno C, Illera N, López-Martínez MA, Trujillo-Tieba MJ, Ayuso C, Del Río M. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis Bullosa, Distrophic.  Hum. Genet.  2010;127;1  

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