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Items: 1 to 20 of 457

1.

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

García-García G, Sanchez-Navarro I, Aller E, Jaijo T, Fuster-Garcia C, Rodríguez-Munoz A, Vallejo E, Tellería JJ, Vázquez S, Beltrán S, Derdak S, Zurita O, Villaverde-Montero C, Avila-Fernández A, Corton M, Blanco-Kelly F, Hakonarson H, Millán JM, Ayuso C.

Mol Vis. 2020 Mar 18;26:216-225. eCollection 2020.

PMID:
32214787
2.

Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1.

Lukovic D, Artero Castro A, Kaya KD, Munezero D, Gieser L, Davó-Martínez C, Corton M, Cuenca N, Swaroop A, Ramamurthy V, Ayuso C, Erceg S.

Sci Rep. 2020 Mar 25;10(1):5426. doi: 10.1038/s41598-020-62047-2.

PMID:
32214115
3.

Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene.

Beigi F, Del Pozo-Valero M, Martin-Merida I, Vahidi Mehrjardi MY, Manaviat MR, Sherafat A, Ayuso C, Ghasemi N.

Ophthalmic Genet. 2020 Feb;41(1):90-92. doi: 10.1080/13816810.2020.1720743. Epub 2020 Feb 10. No abstract available.

PMID:
32039643
4.

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.

Zazo-Seco C, Plaisancié J, Bitoun P, Corton M, Arteche A, Ayuso C, Schneider A, Zafeiropoulou D, Gilissen C, Roche O, Frémont F, Calvas P, Slavotinek A, Ragge N, Chassaing N.

J Hum Genet. 2020 Feb 3. doi: 10.1038/s10038-020-0726-x. [Epub ahead of print]

PMID:
32015378
5.

Expanding the Genetic Landscape of Usher-Like Phenotypes.

Fuster-García C, García-García G, Jaijo T, Blanco-Kelly F, Tian L, Hakonarson H, Ayuso C, Aller E, Millán JM.

Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4701-4710. doi: 10.1167/iovs.19-27470.

PMID:
31725169
6.

Thermal Ablation for Intrahepatic Cholangiocarcinoma in Cirrhosis: Safety and Efficacy in Non-Surgical Patients.

Díaz-González Á, Vilana R, Bianchi L, García-Criado Á, Rimola J, Rodríguez de Lope C, Ferrer J, Ayuso C, Da Fonseca LG, Reig M, Forner A.

J Vasc Interv Radiol. 2019 Nov 1. pii: S1051-0443(19)30576-7. doi: 10.1016/j.jvir.2019.06.014. [Epub ahead of print]

PMID:
31685360
7.

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.

Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S.

Hum Mutat. 2020 Jan;41(1):255-264. doi: 10.1002/humu.23920. Epub 2019 Sep 30.

PMID:
31544997
8.

NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia.

Román-Rodríguez FJ, Ugalde L, Álvarez L, Díez B, Ramírez MJ, Risueño C, Cortón M, Bogliolo M, Bernal S, March F, Ayuso C, Hanenberg H, Sevilla J, Rodríguez-Perales S, Torres-Ruiz R, Surrallés J, Bueren JA, Río P.

Cell Stem Cell. 2019 Nov 7;25(5):607-621.e7. doi: 10.1016/j.stem.2019.08.016. Epub 2019 Sep 19.

PMID:
31543367
9.

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia.

Erkilic N, Gatinois V, Torriano S, Bouret P, Sanjurjo-Soriano C, Luca V, Damodar K, Cereso N, Puechberty J, Sanchez-Alcudia R, Hamel CP, Ayuso C, Meunier I, Pellestor F, Kalatzis V.

Cells. 2019 Sep 11;8(9). pii: E1068. doi: 10.3390/cells8091068.

10.

Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys.

Cerrada V, García-López M, Moreno-Izquierdo A, Villaverde C, Zurita O, Martin-Merida MI, Arenas J, Ayuso C, Gallardo ME.

Stem Cell Res. 2019 Oct;40:101566. doi: 10.1016/j.scr.2019.101566. Epub 2019 Aug 29.

11.

Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.

Fadaie Z, Khan M, Del Pozo-Valero M, Cornelis SS, Ayuso C, Cremers FPM, Roosing S, The Abca Study Group.

Hum Mutat. 2019 Dec;40(12):2365-2376. doi: 10.1002/humu.23890. Epub 2019 Sep 3.

12.

Performance of gadoxetic acid MRI and diffusion-weighted imaging for the diagnosis of early recurrence of hepatocellular carcinoma.

Rimola J, Forner A, Sapena V, Llarch N, Darnell A, Díaz A, García-Criado A, Bianchi L, Vilana R, Díaz-González Á, Ayuso C, Bruix J, Reig M.

Eur Radiol. 2020 Jan;30(1):186-194. doi: 10.1007/s00330-019-06351-0. Epub 2019 Aug 1.

PMID:
31372783
13.

Reasons for and time to retraction of genetics articles published between 1970 and 2018.

Dal-Ré R, Ayuso C.

J Med Genet. 2019 Nov;56(11):734-740. doi: 10.1136/jmedgenet-2019-106137. Epub 2019 Jul 12.

14.

Diabetes-mediated promotion of colon mucosa carcinogenesis is associated with mitochondrial dysfunction.

Del Puerto-Nevado L, Santiago-Hernandez A, Solanes-Casado S, Gonzalez N, Ricote M, Corton M, Prieto I, Mas S, Sanz AB, Aguilera O, Gomez-Guerrero C, Ayuso C, Ortiz A, Rojo F, Egido J, Garcia-Foncillas J, Minguez P, Alvarez-Llamas G; DiabetesCancerConnect Consortium.

Mol Oncol. 2019 Sep;13(9):1887-1897. doi: 10.1002/1878-0261.12531. Epub 2019 Jul 27.

15.

Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.

Del Pozo-Valero M, Martin-Merida I, Jimenez-Rolando B, Arteche A, Avila-Fernandez A, Blanco-Kelly F, Riveiro-Alvarez R, Van Cauwenbergh C, De Baere E, Rivolta C, Garcia-Sandoval B, Corton M, Ayuso C.

Am J Ophthalmol. 2019 Nov;207:204-214. doi: 10.1016/j.ajo.2019.05.014. Epub 2019 May 24.

PMID:
31129250
16.

Prospective evaluation of gadoxetic acid magnetic resonance for the diagnosis of hepatocellular carcinoma in newly detected nodules ≤2 cm in cirrhosis.

Ayuso C, Forner A, Darnell A, Rimola J, García-Criado Á, Bianchi L, Vilana R, Oliveira R, Llarch N, Bruix J.

Liver Int. 2019 Jul;39(7):1281-1291. doi: 10.1111/liv.14133. Epub 2019 May 28.

PMID:
31077539
17.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S.

Hum Mutat. 2019 Aug;40(8):1145-1155. doi: 10.1002/humu.23768. Epub 2019 May 6.

PMID:
31058429
18.

Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.

Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A, Trujillo-Tiebas MJ, Tahsin-Swafiri S, Rodriguez-Pinilla E, Lorda-Sanchez I, Garcia-Sandoval B, Corton M, Ayuso C.

Ophthalmology. 2019 Aug;126(8):1181-1188. doi: 10.1016/j.ophtha.2019.03.018. Epub 2019 Mar 20.

PMID:
30902645
19.

Diagnosis of Hepatic Nodules in Patients at Risk for Hepatocellular Carcinoma: LI-RADS Probability Versus Certainty.

Bruix J, Ayuso C.

Gastroenterology. 2019 Mar;156(4):860-862. doi: 10.1053/j.gastro.2019.02.008. Epub 2019 Feb 15. No abstract available.

PMID:
30776351
20.

Corrigendum to "Diagnosis and staging of hepatocellular carcinoma (HCC): Current guidelines" [Eur. J. Radiol. 101 (2018) 72-81].

Ayuso C, Rimola J, Vilana R, Burrel M, Darnell A, García-Criado Á, Bianchi L, Belmonte E, Caparroz C, Barrufet M, Bruix J, Brú C.

Eur J Radiol. 2019 Mar;112:229. doi: 10.1016/j.ejrad.2019.01.018. Epub 2019 Jan 30. No abstract available.

PMID:
30709654

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