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Papers authored by Ayuso C

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Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

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Riveiro-Alvarez R, Aguirre-Lamban J, Lopez-Martinez MA, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Ramos C, and Ayuso C

The British journal of ophthalmology 93(10):1359-64, 2009 Oct - Who cited this? | PubMed ID: 18977788 | Fulltext

Reply:.

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Rimola J, Forner A, Ayuso C, Bruix J, and BCLC Group

Hepatology (Baltimore, Md.) 50(4):1316-7, 2009 Oct - Who cited this? | PubMed ID: 19790089 | Fulltext

Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.

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Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Lopez-Martinez MA, Aguirre-Lamban J, Garcia-Sandoval B, Vazquez-Fernandez del Pozo S, Cantalapiedra D, Avila-Fernandez A, Baiget M, Ramos C, and Ayuso C

Investigative ophthalmology & visual science 50(9):4342-50, 2009 Sep - Who cited this? | PubMed ID: 19324861 | Fulltext

Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.

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Fusco F, Paciolla M, Pescatore A, Lioi MB, Ayuso C, Faravelli F, Gentile M, Zollino M, D'Urso M, Miano MG, and Ursini MV

Human mutation 30(9):1284-91, 2009 Sep - Who cited this? | PubMed ID: 19603533 | Fulltext

Cholangiocarcinoma in cirrhosis: absence of contrast washout in delayed phases by magnetic resonance imaging avoids misdiagnosis of hepatocellular carcinoma.

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Rimola J, Forner A, Reig M, Vilana R, de Lope CR, Ayuso C, and Bruix J

Hepatology (Baltimore, Md.) 50(3):791-8, 2009 Sep - Who cited this? | PubMed ID: 19610049 | Fulltext

Magnetic resonance for assessment of disease activity and severity in ileocolonic Crohn's disease.

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Rimola J, Rodriguez S, García-Bosch O, Ordás I, Ayala E, Aceituno M, Pellisé M, Ayuso C, Ricart E, Donoso L, and Panés J

Gut 58(8):1113-20, 2009 Aug - Who cited this? | PubMed ID: 19136510 | Fulltext

Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.

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Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Avila-Fernandez A, Vallespin E, Villaverde-Montero C, Gomez-Dominguez B, Auz-Alexandre CL, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 126(2):330, 2009 Aug - Who cited this? | PubMed ID: 19693992 | Fulltext

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.

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Cuadrado-Corrales N, Garcia M, Escamez MJ, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, and Del Rio M

Human genetics 126(2):334, 2009 Aug - Who cited this? | PubMed ID: 19694003 | Fulltext

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.

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Garcia M, Escamez MJ, Cuadrado-Corrales N, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, and Del Rio M

Human genetics 126(2):334-5, 2009 Aug - Who cited this? | PubMed ID: 19694004 | Fulltext

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.

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Cuadrado-Corrales N, Garcia M, Escamez MJ, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, and Del Rio M

Human genetics 126(2):335, 2009 Aug - Who cited this? | PubMed ID: 19694005 | Fulltext

Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.

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Aguirre-Lamban J, Riveiro-Alvarez R, Garcia-Hoyos M, Cantalapiedra D, Martinez-Garcia M, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 126(2):341, 2009 Aug - Who cited this? | PubMed ID: 19694024 | Fulltext

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

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Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P,

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Human mutation 30(7):E692-705, 2009 Jul - Who cited this? | PubMed ID: 19319978 | Fulltext

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

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Aguirre-Lamban J, Riveiro-Alvarez R, Maia-Lopes S, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, and Ayuso C

The British journal of ophthalmology 93(5):614-21, 2009 May - Who cited this? | PubMed ID: 19028736 | Fulltext

Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis.

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Auz-Alexandre CL, Vallespin E, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Ainse E, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 125(3):349, 2009 Apr - Who cited this? | PubMed ID: 19320033 | Fulltext

Novel human pathological mutations. Gene symbol: OA1. Disease: Albinism, ocular.

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Martinez-Garcia M, Trujillo-Tiebas MJ, Villaverde C, López-Martínez MA, and Ayuso C

Human genetics 125(3):349, 2009 Apr - Who cited this? | PubMed ID: 19320034 | Fulltext

Early embryonic requirement for nucleoporin Nup35/NPP-19 in nuclear assembly.

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Ródenas E, Klerkx EP, Ayuso C, Audhya A, and Askjaer P

Developmental biology 327(2):399-409, 2009 Mar 15 - Who cited this? | PubMed ID: 19146848 | Fulltext

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

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Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C,

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Nature genetics 41(3):359-64, 2009 Mar - Who cited this? | PubMed ID: 19234473 | Fulltext

Complexity of Phenotype-Genotype Correlations in Spanish Patients with RDH12 Mutations.

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Valverde D, Pereiro I, Vallespín E, Ayuso C, Borrego S, and Baiget M

Investigative ophthalmology & visual science 50(3):1065-8, 2009 Mar - Who cited this? | PubMed ID: 19011012 | Fulltext

[Diagnosis and treatment of hepatocellular carcinoma.].

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Forner A, Ayuso C, Isabel Real M, Sastre J, Robles R, Sangro B, Varela M, de la Mata M, Buti M, Martí-Bonmatí L, Bru C, Tabernero J, Llovet JM, and Bruix J

Medicina clinica 132(7):272-87, 2009 Feb 28 - Who cited this? | PubMed ID: 19248879 | Fulltext

Evaluation of tumor response after locoregional therapies in hepatocellular carcinoma: are response evaluation criteria in solid tumors reliable?.

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Forner A, Ayuso C, Varela M, Rimola J, Hessheimer AJ, de Lope CR, Reig M, Bianchi L, Llovet JM, and Bruix J

Cancer 115(3):616-23, 2009 Feb 1 - Who cited this? | PubMed ID: 19117042 | Fulltext

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

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Campos-Mollo E, López-Garrido MP, Blanco-Marchite C, Garcia-Feijoo J, Peralta J, Belmonte-Martínez J, Ayuso C, and Escribano J

Molecular vision 15:417-31, 2009 - Who cited this? | PubMed ID: 19234632 | Fulltext

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

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Maia-Lopes S, Aguirre-Lamban J, Castelo-Branco M, Riveiro-Alvarez R, Ayuso C, and Silva ED

Molecular vision 15:584-91, 2009 - Who cited this? | PubMed ID: 19365591 | Fulltext

Role of 3.0-T MR colonography in the evaluation of inflammatory bowel disease.

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Rimola J, Rodríguez S, García-Bosch O, Ricart E, Pagès M, Pellisé M, Ayuso C, and Panés J

Radiographics : a review publication of the Radiological Society of North America, Inc 29(3):701-19, 2009 - Who cited this? | PubMed ID: 19448111 | Fulltext

Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study.

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Bustamante-Aragones A, Trujillo-Tiebas MJ, Gallego-Merlo J, Rodriguez de Alba M, Gonzalez-Gonzalez C, Cantalapiedra D, Ayuso C, and Ramos C

European journal of neurology : the official journal of the European Federation of Neurological Societies 15(12):1338-44, 2008 Dec - Who cited this? | PubMed ID: 19049551 | Fulltext

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.

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Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, and Ragge N

Human mutation 29(11):E278-83, 2008 Nov - Who cited this? | PubMed ID: 18781617 | Fulltext

New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma.

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Bustamante-Aragones A, Gallego-Merlo J, Trujillo-Tiebas MJ, de Alba MR, Gonzalez-Gonzalez C, Glover G, Diego-Alvarez D, Ayuso C, and Ramos C

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 7(6):505-10, 2008 Nov - Who cited this? | PubMed ID: 18573697 | Fulltext

Gene symbol: CHM. Disease: Choroideraemia.

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Villaverde C, Trujillo-Tiebas MJ, López-Martinez MA, Giménez-Pardo A, Cantalapiedra D, Vallespin E, García-Hoyos M, and Ayuso C

Human genetics 124(3):302, 2008 Oct - Who cited this? | PubMed ID: 18846629 | Fulltext

Gene symbol: RPGR. Disease: Retinitis Pigmentosa.

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Giménez A, Riveiro R, Trujillo-Tiebas MJ, Aguirre J, Avila A, García-Hoyos M, and Ayuso C

Human genetics 124(3):303, 2008 Oct - Who cited this? | PubMed ID: 18846630 | Fulltext

Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile.

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Riveiro-Alvarez R, Gimenez A, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, and Ayuso C

Human genetics 124(3):307-8, 2008 Oct - Who cited this? | PubMed ID: 18846643 | Fulltext

Gene symbol: NDP. Disease: Norrie disease.

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Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 124(3):308, 2008 Oct - Who cited this? | PubMed ID: 18846645 | Fulltext

Gene symbol: ABCA4. Disease: Macular dystrophy.

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Aguirre-Lambán J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 124(3):314, 2008 Oct - Who cited this? | PubMed ID: 18846660 | Fulltext

Gene symbol: ABCA4. Disease: Macular dystrophy.

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Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 124(3):319, 2008 Oct - Who cited this? | PubMed ID: 18846675 | Fulltext

Gene symbol: ABCA4. Disease: Macular dystrophy.

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Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 124(3):321, 2008 Oct - Who cited this? | PubMed ID: 18846678 | Fulltext

Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).

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Tam LC, Kiang AS, Kennan A, Kenna PF, Chadderton N, Ader M, Palfi A, Aherne A, Ayuso C, Campbell M, Reynolds A, McKee A, Humphries MM, Farrar GJ, and Humphries P

Human molecular genetics 17(14):2084, 2008 Jul 15 - Who cited this? | PubMed ID: 18385099 | Fulltext

[Recommendations of the Spanish Biliopancreatic Club for the Treatment of Acute Pancreatitis. Consensus development conference.].

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Navarro S, Amador J, Argüello L, Ayuso C, Boadas J, de Las Heras G, Farré A, Fernández-Cruz L, Ginés A, Guarner L, López Serrano A, Llach J, Lluis F, de Madaria E, Martínez J, Mato R,

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Gastroenterología y hepatología 31(6):366 - Who cited this? | PubMed ID: 18570814 | Fulltext

CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.

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Avila-Fernandez A, Riveiro-Alvarez R, Vallespin E, Wilke R, Tapias I, Cantalapiedra D, Aguirre-Lamban J, Gimenez A, Trujillo-Tiebas MJ, and Ayuso C

Investigative ophthalmology & visual science 49(6):2709, 2008 Jun - Who cited this? | PubMed ID: 18515597 | Fulltext

Uncommon tumors and pseudotumoral lesions of the pancreas.

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de Juan C, Sanchez M, Miquel R, Pages M, Ayuso JR, and Ayuso C

Current problems in diagnostic radiology 37(4):145 - Who cited this? | PubMed ID: 18502323 | Fulltext

Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers.

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Bustamante-Aragones A, Rodriguez de Alba M, Gonzalez-Gonzalez C, Trujillo-Tiebas MJ, Diego-Alvarez D, Vallespin E, Plaza J, Ayuso C, and Ramos C

Haemophilia : the official journal of the World Federation of Hemophilia 14(3):593-8, 2008 May - Who cited this? | PubMed ID: 18328062 | Fulltext

[Magnetic resonance enterography in Crohn's disease: a new diagnostic tool?].

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Rimola J, Rodríguez S, and Ayuso C

Medicina clinica 130(15):580-4, 2008 Apr 26 - Who cited this? | PubMed ID: 18462637 | Fulltext

Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

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Bernal S, Solans T, Gamundi MJ, Hernan I, de Jorge L, Carballo M, Navarro R, Tizzano E, Ayuso C, and Baiget M

Clinical genetics 73(4):360-6, 2008 Apr - Who cited this? | PubMed ID: 18294254 | Fulltext

New type of mutations in three spanish families with choroideremia.

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Garcia-Hoyos M, Lorda-Sanchez I, Gómez-Garre P, Villaverde C, Cantalapiedra D, Bustamante A, Diego-Alvarez D, Vallespin E, Gallego-Merlo J, Trujillo MJ, Ramos C, and Ayuso C

Investigative ophthalmology & visual science 49(4):1315-21, 2008 Apr - Who cited this? | PubMed ID: 18385043 | Fulltext

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

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Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K,

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Brain : a journal of neurology 131(Pt 2):338, 2008 Feb - Who cited this? | PubMed ID: 18158317 | Fulltext

Gene symbol: BEST1. Disease: Best macular dystrophy.

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Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 123(1):110, 2008 Feb - Who cited this? | PubMed ID: 18386350 | Fulltext

Gene symbol: BEST1. Disease: Best macular dystrophy.

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Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 123(1):110, 2008 Feb - Who cited this? | PubMed ID: 18386355 | Fulltext

Gene symbol: BEST1. Disease: Best macular dystrophy.

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Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 123(1):110-1, 2008 Feb - Who cited this? | PubMed ID: 18386356 | Fulltext

Gene symbol: BEST1. Disease: Best macular dystrophy.

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Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 123(1):111, 2008 Feb - Who cited this? | PubMed ID: 18386360 | Fulltext

Gene symbol: BEST1. Disease: Best macular dystrophy.

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Maia-Lopes S, Castelo-Branco M, Silva E, Villaverde C, Aguirre J, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 123(1):111, 2008 Feb - Who cited this? | PubMed ID: 18386364 | Fulltext

Gene symbol: ABCA4. Disease: Macular dystrophy.

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Maia-Lopes S, Castelo-Branco M, Silva E, Aguirre J, Riveiro-Alvarez R, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 123(1):111, 2008 Feb - Who cited this? | PubMed ID: 18386365 | Fulltext

Gene symbol: ABCA4. Disease: Macular dystrophy.

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Maia-Lopes S, Castelo-Branco M, Silva E, Aguirre J, Riveiro-Alvarez R, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 123(1):112, 2008 Feb - Who cited this? | PubMed ID: 18386369 | Fulltext

Gene symbol: BEST1. Disease: Best macular dystrophy.

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Maia-Lopes S, Castelo-Branco M, Silva E, Aguirre J, Riveiro-Alvarez R, Trujillo-Tiebas MJ, and Ayuso C

Human genetics 123(1):112, 2008 Feb - Who cited this? | PubMed ID: 18386373 | Fulltext

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