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Items: 1 to 50 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.

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.

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
21.

Time association between hepatitis C therapy and hepatocellular carcinoma emergence in cirrhosis: Relevance of non-characterized nodules.

Mariño Z, Darnell A, Lens S, Sapena V, Díaz A, Belmonte E, Perelló C, Calleja JL, Varela M, Rodriguez M, Rodriguez de Lope C, Llerena S, Torras X, Gallego A, Sala M, Morillas RM, Minguez B, Llaneras J, Coll S, Carrion JA, Iñarrairaegui M, Sangro B, Vilana R, Sole M, Ayuso C, Ríos J, Forns X, Bruix J, Reig M.

J Hepatol. 2019 May;70(5):874-884. doi: 10.1016/j.jhep.2019.01.005. Epub 2019 Jan 24.

PMID:
30684506
22.

Molecular evidence of field cancerization initiated by diabetes in colon cancer patients.

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

Mol Oncol. 2019 Apr;13(4):857-872. doi: 10.1002/1878-0261.12438. Epub 2019 Feb 16.

23.

Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK.

Artero Castro A, Long K, Bassett A, Machuca C, León M, Ávila-Fernandez A, Cortón M, Vidal-Puig T, Ayuso C, Lukovic D, Erceg S.

Stem Cell Res. 2019 Jan;34:101341. doi: 10.1016/j.scr.2018.11.003. Epub 2018 Nov 16.

24.

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.

Genet Med. 2019 Apr;21(4):1028. doi: 10.1038/s41436-018-0392-y.

25.

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly.

Rodriguez-Laguna L, Agra N, Ibañez K, Oliva-Molina G, Gordo G, Khurana N, Hominick D, Beato M, Colmenero I, Herranz G, Torres Canizalez JM, Rodríguez Pena R, Vallespín E, Martín-Arenas R, Del Pozo Á, Villaverde C, Bustamante A, Ayuso C, Lapunzina P, Lopez-Gutierrez JC, Dellinger MT, Martinez-Glez V.

J Exp Med. 2019 Feb 4;216(2):407-418. doi: 10.1084/jem.20181353. Epub 2018 Dec 27.

26.

Pseudorapidity Dependence of Particle Production and Elliptic Flow in Asymmetric Nuclear Collisions of p+Al, p+Au, d+Au, and ^{3}He+Au at sqrt[s_{NN}]=200  GeV.

Adare A, Aidala C, Ajitanand NN, Akiba Y, Alfred M, Andrieux V, Aoki K, Apadula N, Asano H, Ayuso C, Azmoun B, Babintsev V, Bai M, Bandara NS, Bannier B, Barish KN, Bathe S, Bazilevsky A, Beaumier M, Beckman S, Belmont R, Berdnikov A, Berdnikov Y, Blau DS, Boer M, Bok JS, Boyle K, Brooks ML, Bryslawskyj J, Bumazhnov V, Butler C, Campbell S, Canoa Roman V, Cervantes R, Chen CH, Chi CY, Chiu M, Choi IJ, Choi JB, Chujo T, Citron Z, Connors M, Cronin N, Csanád M, Csörgő T, Danley TW, Datta A, Daugherity MS, David G, DeBlasio K, Dehmelt K, Denisov A, Deshpande A, Desmond EJ, Dion A, Diss PB, Dixit D, Do JH, Drees A, Drees KA, Dumancic M, Durham JM, Durum A, Elder T, Enokizono A, En'yo H, Esumi S, Fadem B, Fan W, Feege N, Fields DE, Finger M, Finger M, Fokin SL, Frantz JE, Franz A, Frawley AD, Fukuda Y, Gal C, Gallus P, Garg P, Ge H, Giordano F, Glenn A, Goto Y, Grau N, Greene SV, Grosse Perdekamp M, Gunji T, Guragain H, Hachiya T, Haggerty JS, Hahn KI, Hamagaki H, Hamilton HF, Han SY, Hanks J, Hasegawa S, Haseler TOS, Hashimoto K, He X, Hemmick TK, Hill JC, Hill K, Hodges A, Hollis RS, Homma K, Hong B, Hoshino T, Hotvedt N, Huang J, Huang S, Imai K, Imrek J, Inaba M, Iordanova A, Isenhower D, Ito Y, Ivanishchev D, Jacak BV, Jezghani M, Ji Z, Jia J, Jiang X, Johnson BM, Jorjadze V, Jouan D, Jumper DS, Kanda S, Kang JH, Kapukchyan D, Karthas S, Kawall D, Kazantsev AV, Key JA, Khachatryan V, Khanzadeev A, Kim C, Kim DJ, Kim EJ, Kim GW, Kim M, Kim MH, Kimelman B, Kincses D, Kistenev E, Kitamura R, Klatsky J, Kleinjan D, Kline P, Koblesky T, Komkov B, Kotov D, Kudo S, Kurgyis B, Kurita K, Kurosawa M, Kwon Y, Lacey R, Lajoie JG, Lallow EO, Lebedev A, Lee S, Lee SH, Leitch MJ, Leung YH, Lewis NA, Li X, Li X, Lim SH, Liu LD, Liu MX, Loggins VR, Lökös S, Lovasz K, Lynch D, Majoros T, Makdisi YI, Makek M, Malaev M, Manion A, Manko VI, Mannel E, Masuda H, McCumber M, McGaughey PL, McGlinchey D, McKinney C, Meles A, Mendoza M, Metzger WJ, Mignerey AC, Mihalik DE, Milov A, Mishra DK, Mitchell JT, Mitrankov I, Mitsuka G, Miyasaka S, Mizuno S, Mohanty AK, Montuenga P, Moon T, Morrison DP, Morrow SI, Moukhanova TV, Murakami T, Murata J, Mwai A, Nagai K, Nagashima K, Nagashima T, Nagle JL, Nagy MI, Nakagawa I, Nakagomi H, Nakano K, Nattrass C, Netrakanti PK, Niida T, Nishimura S, Nishitani R, Nouicer R, Novák T, Novitzky N, Novotny R, Nyanin AS, O'Brien E, Ogilvie CA, Orjuela Koop JD, Osborn JD, Oskarsson A, Ottino GJ, Ozawa K, Pak R, Pantuev V, Papavassiliou V, Park JS, Park S, Pate SF, Patel M, Peng JC, Peng W, Perepelitsa DV, Perera GDN, Peressounko DY, PerezLara CE, Perry J, Petti R, Phipps M, Pinkenburg C, Pinson R, Pisani RP, Pun A, Purschke ML, Radzevich PV, Rak J, Ramson BJ, Ravinovich I, Read KF, Reynolds D, Riabov V, Riabov Y, Richford D, Rinn T, Rolnick SD, Rosati M, Rowan Z, Rubin JG, Runchey J, Safonov AS, Sahlmueller B, Saito N, Sakaguchi T, Sako H, Samsonov V, Sarsour M, Sato K, Sato S, Schaefer B, Schmoll BK, Sedgwick K, Seidl R, Sen A, Seto R, Sett P, Sexton A, Sharma D, Shein I, Shibata TA, Shigaki K, Shimomura M, Shioya T, Shukla P, Sickles A, Silva CL, Silvermyr D, Singh BK, Singh CP, Singh V, Skoby MJ, Slunečka M, Smith KL, Snowball M, Soltz RA, Sondheim WE, Sorensen SP, Sourikova IV, Stankus PW, Stepanov M, Stoll SP, Sugitate T, Sukhanov A, Sumita T, Sun J, Sun Z, Suzuki S, Syed S, Sziklai J, Takeda A, Taketani A, Tanida K, Tannenbaum MJ, Tarafdar S, Taranenko A, Tarnai G, Tieulent R, Timilsina A, Todoroki T, Tomášek M, Towell CL, Towell R, Towell RS, Tserruya I, Ueda Y, Ujvari B, van Hecke HW, Vazquez-Carson S, Velkovska J, Virius M, Vrba V, Vukman N, Wang XR, Wang Z, Watanabe Y, Watanabe YS, Wei F, White AS, Wong CP, Woody CL, Wysocki M, Xia B, Xu C, Xu Q, Xue L, Yalcin S, Yamaguchi YL, Yamamoto H, Yanovich A, Yin P, Yoo JH, Yoon I, Yu H, Yushmanov IE, Zajc WA, Zelenski A, Zharko S, Zhou S, Zou L; PHENIX Collaboration.

Phys Rev Lett. 2018 Nov 30;121(22):222301. doi: 10.1103/PhysRevLett.121.222301.

27.

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.

Fuster-García C, García-García G, Jaijo T, Fornés N, Ayuso C, Fernández-Burriel M, Sánchez-De la Morena A, Aller E, Millán JM.

Sci Rep. 2018 Nov 20;8(1):17113. doi: 10.1038/s41598-018-35085-0.

28.

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.

Tarilonte M, Morín M, Ramos P, Galdós M, Blanco-Kelly F, Villaverde C, Rey-Zamora D, Rebolleda G, Muñoz-Negrete FJ, Tahsin-Swafiri S, Gener B, Moreno-Pelayo MA, Ayuso C, Villamar M, Corton M.

Front Genet. 2018 Oct 17;9:479. doi: 10.3389/fgene.2018.00479. eCollection 2018.

29.

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.

Genet Med. 2019 Jun;21(6):1319-1329. doi: 10.1038/s41436-018-0345-5. Epub 2018 Oct 31. Erratum in: Genet Med. 2019 Apr;21(4):1028.

30.

Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1.

Lukovic D, Artero Castro A, León M, Del Buey Furió V, Cortón M, Ayuso C, Erceg S.

Stem Cell Res. 2018 Dec;33:151-155. doi: 10.1016/j.scr.2018.10.012. Epub 2018 Oct 5.

31.

Implication of non-coding PAX6 mutations in aniridia.

Plaisancié J, Tarilonte M, Ramos P, Jeanton-Scaramouche C, Gaston V, Dollfus H, Aguilera D, Kaplan J, Fares-Taie L, Blanco-Kelly F, Villaverde C, Francannet C, Goldenberg A, Arroyo I, Rozet JM, Ayuso C, Chassaing N, Calvas P, Corton M.

Hum Genet. 2018 Oct;137(10):831-846. doi: 10.1007/s00439-018-1940-x. Epub 2018 Oct 5.

PMID:
30291432
32.

Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene.

Zurita-Díaz F, Ortuño-Costela MDC, Moreno-Izquierdo A, Galbis L, Millán JM, Ayuso C, Garesse R, Gallardo ME.

Stem Cell Res. 2018 Aug;31:152-156. doi: 10.1016/j.scr.2018.08.002. Epub 2018 Aug 2.

33.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.

Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogné B, Deb W, Vincent M, Le Gall J, Morton J, Lim D; DDD Study, Le Meur G, Zazo Seco C, Zafeiropoulou D, Bax D, Zwijnenburg P, Arteche A, Swafiri ST, Cleaver R, McEntagart M, Kini U, Newman W, Ayuso C, Corton M, Herenger Y, Jeanne M, Calvas P, Chassaing N.

Hum Genet. 2019 Sep;138(8-9):1051-1069. doi: 10.1007/s00439-018-1896-x. Epub 2018 Jul 4.

34.

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

Pérez-Carro R, Blanco-Kelly F, Galbis-Martínez L, García-García G, Aller E, García-Sandoval B, Mínguez P, Corton M, Mahíllo-Fernández I, Martín-Mérida I, Avila-Fernández A, Millán JM, Ayuso C.

PLoS One. 2018 Jun 18;13(6):e0199048. doi: 10.1371/journal.pone.0199048. eCollection 2018.

35.

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

Martin-Merida I, Aguilera-Garcia D, Fernandez-San Jose P, Blanco-Kelly F, Zurita O, Almoguera B, Garcia-Sandoval B, Avila-Fernandez A, Arteche A, Minguez P, Carballo M, Corton M, Ayuso C.

Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2345-2354. doi: 10.1167/iovs.18-23854.

PMID:
29847639
36.

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

Sanchez-Navarro I, R J da Silva L, Blanco-Kelly F, Zurita O, Sanchez-Bolivar N, Villaverde C, Lopez-Molina MI, Garcia-Sandoval B, Tahsin-Swafiri S, Minguez P, Riveiro-Alvarez R, Lorda I, Sanchez-Alcudia R, Perez-Carro R, Valverde D, Liu Y, Tian L, Hakonarson H, Avila-Fernandez A, Corton M, Ayuso C.

Sci Rep. 2018 Mar 27;8(1):5285. doi: 10.1038/s41598-018-23520-1.

37.

Diagnosis and staging of hepatocellular carcinoma (HCC): current guidelines.

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. 2018 Apr;101:72-81. doi: 10.1016/j.ejrad.2018.01.025. Epub 2018 Jan 31. Review. Erratum in: Eur J Radiol. 2019 Mar;112:229.

PMID:
29571804
38.

Measurements of Multiparticle Correlations in d+Au Collisions at 200, 62.4, 39, and 19.6 GeV and p+Au Collisions at 200 GeV and Implications for Collective Behavior.

Aidala C, Akiba Y, Alfred M, Andrieux V, Aoki K, Apadula N, Asano H, Ayuso C, Azmoun B, Babintsev V, Bagoly A, Bandara NS, Barish KN, Bathe S, Bazilevsky A, Beaumier M, Belmont R, Berdnikov A, Berdnikov Y, Blau DS, Boer M, Bok JS, Brooks ML, Bryslawskyj J, Bumazhnov V, Butler C, Campbell S, Canoa Roman V, Cervantes R, Chi CY, Chiu M, Choi IJ, Choi JB, Citron Z, Connors M, Cronin N, Csanád M, Csörgő T, Danley TW, Daugherity MS, David G, DeBlasio K, Dehmelt K, Denisov A, Deshpande A, Desmond EJ, Dion A, Dixit D, Do JH, Drees A, Drees KA, Dumancic M, Durham JM, Durum A, Elder T, Enokizono A, En'yo H, Esumi S, Fadem B, Fan W, Feege N, Fields DE, Finger M, Finger M, Fokin SL, Frantz JE, Franz A, Frawley AD, Fukuda Y, Gal C, Gallus P, Garg P, Ge H, Giordano F, Goto Y, Grau N, Greene SV, Grosse Perdekamp M, Gunji T, Guragain H, Hachiya T, Haggerty JS, Hahn KI, Hamagaki H, Hamilton HF, Han SY, Hanks J, Hasegawa S, Haseler TOS, He X, Hemmick TK, Hill JC, Hill K, Hodges A, Hollis RS, Homma K, Hong B, Hoshino T, Hotvedt N, Huang J, Huang S, Imai K, Imrek J, Inaba M, Iordanova A, Isenhower D, Ito Y, Ivanishchev D, Jacak BV, Jezghani M, Ji Z, Jiang X, Johnson BM, Jorjadze V, Jouan D, Jumper DS, Kang JH, Kapukchyan D, Karthas S, Kawall D, Kazantsev AV, Khachatryan V, Khanzadeev A, Kim C, Kim DJ, Kim EJ, Kim M, Kim MH, Kincses D, Kistenev E, Klatsky J, Kline P, Koblesky T, Kotov D, Kudo S, Kurita K, Kwon Y, Lajoie JG, Lallow EO, Lebedev A, Lee S, Lee SH, Leitch MJ, Leung YH, Lewis NA, Li X, Lim SH, Liu LD, Liu MX, Loggins VR, Lökös S, Lovasz K, Lynch D, Majoros T, Makdisi YI, Makek M, Malaev M, Manko VI, Mannel E, Masuda H, McCumber M, McGaughey PL, McGlinchey D, McKinney C, Mendoza M, Metzger WJ, Mignerey AC, Mihalik DE, Milov A, Mishra DK, Mitchell JT, Mitsuka G, Miyasaka S, Mizuno S, Montuenga P, Moon T, Morrison DP, Morrow SIM, Murakami T, Murata J, Nagai K, Nagashima K, Nagashima T, Nagle JL, Nagy MI, Nakagawa I, Nakagomi H, Nakano K, Nattrass C, Niida T, Nouicer R, Novák T, Novitzky N, Novotny R, Nyanin AS, O'Brien E, Ogilvie CA, Orjuela Koop JD, Osborn JD, Oskarsson A, Ottino GJ, Ozawa K, Pantuev V, Papavassiliou V, Park JS, Park S, Pate SF, Patel M, Peng W, Perepelitsa DV, Perera GDN, Peressounko DY, PerezLara CE, Perry J, Petti R, Phipps M, Pinkenburg C, Pisani RP, Pun A, Purschke ML, Radzevich PV, Read KF, Reynolds D, Riabov V, Riabov Y, Richford D, Rinn T, Rolnick SD, Rosati M, Rowan Z, Runchey J, Safonov AS, Sakaguchi T, Sako H, Samsonov V, Sarsour M, Sato K, Sato S, Schaefer B, Schmoll BK, Sedgwick K, Seidl R, Sen A, Seto R, Sexton A, Sharma D, Shein I, Shibata TA, Shigaki K, Shimomura M, Shioya T, Shukla P, Sickles A, Silva CL, Silvermyr D, Singh BK, Singh CP, Singh V, Skoby MJ, Slunečka M, Smith KL, Snowball M, Soltz RA, Sondheim WE, Sorensen SP, Sourikova IV, Stankus PW, Stoll SP, Sugitate T, Sukhanov A, Sumita T, Sun J, Syed S, Sziklai J, Takeda A, Tanida K, Tannenbaum MJ, Tarafdar S, Taranenko A, Tarnai G, Tieulent R, Timilsina A, Todoroki T, Tomášek M, Towell CL, Towell RS, Tserruya I, Ueda Y, Ujvari B, van Hecke HW, Vazquez-Carson S, Velkovska J, Virius M, Vrba V, Vukman N, Wang XR, Wang Z, Watanabe Y, Watanabe YS, Wong CP, Woody CL, Xu C, Xu Q, Xue L, Yalcin S, Yamaguchi YL, Yamamoto H, Yanovich A, Yin P, Yoo JH, Yoon I, Yu H, Yushmanov IE, Zajc WA, Zelenski A, Zharko S, Zou L; PHENIX Collaboration.

Phys Rev Lett. 2018 Feb 9;120(6):062302. doi: 10.1103/PhysRevLett.120.062302.

PMID:
29481251
39.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martínez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart A, Stewart H, Lachlan K; DDD Study, Fryer A, McKay V, Roume J, Dureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M, Ragge NK.

Hum Genet. 2019 Sep;138(8-9):1027-1042. doi: 10.1007/s00439-018-1875-2. Epub 2018 Feb 20.

PMID:
29464339
40.

Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene.

Bolinches-Amorós A, Lukovic D, Castro AA, León M, Kamenarova K, Kaneva R, Jendelova P, Blanco-Kelly F, Ayuso C, Cortón M, Erceg S.

Stem Cell Res. 2018 Apr;28:96-99. doi: 10.1016/j.scr.2018.01.004. Epub 2018 Jan 4.

41.

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V.

Genet Med. 2018 Aug;20(8):882-889. doi: 10.1038/gim.2017.200. Epub 2018 Feb 15.

PMID:
29446767
42.

[Easing access to all information should be mandatory to medical journals].

Dal-Re R, Ayuso C.

Rev Neurol. 2018 Feb 16;66(4):135. Spanish.

43.

Identification of PITX3 mutations in individuals with various ocular developmental defects.

Zazo Seco C, Plaisancié J, Lupasco T, Michot C, Pechmeja J, Delanne J, Cottereau E, Ayuso C, Corton M, Calvas P, Ragge N, Chassaing N.

Ophthalmic Genet. 2018 Jun;39(3):314-320. doi: 10.1080/13816810.2018.1430243. Epub 2018 Feb 6.

PMID:
29405783
44.

Nuclear Dependence of the Transverse-Single-Spin Asymmetry for Forward Neutron Production in Polarized p+A Collisions at sqrt[s_{NN}]=200  GeV.

Aidala C, Akiba Y, Alfred M, Andrieux V, Aoki K, Apadula N, Asano H, Ayuso C, Azmoun B, Babintsev V, Bagoly A, Bandara NS, Barish KN, Bathe S, Bazilevsky A, Beaumier M, Belmont R, Berdnikov A, Berdnikov Y, Blau DS, Boer M, Bok JS, Brooks ML, Bryslawskyj J, Bumazhnov V, Butler C, Campbell S, Canoa Roman V, Cervantes R, Chi CY, Chiu M, Choi IJ, Choi JB, Citron Z, Connors M, Cronin N, Csanád M, Csörgő T, Danley TW, Daugherity MS, David G, DeBlasio K, Dehmelt K, Denisov A, Deshpande A, Desmond EJ, Dion A, Dixit D, Do JH, Drees A, Drees KA, Dumancic M, Durham JM, Durum A, Elder T, Enokizono A, En'yo H, Esumi S, Fadem B, Fan W, Feege N, Fields DE, Finger M, Finger M, Fokin SL, Frantz JE, Franz A, Frawley AD, Fukuda Y, Gal C, Gallus P, Garg P, Ge H, Giordano F, Goto Y, Grau N, Greene SV, Grosse Perdekamp M, Gunji T, Guragain H, Hachiya T, Haggerty JS, Hahn KI, Hamagaki H, Hamilton HF, Han SY, Hanks J, Hasegawa S, Haseler TOS, He X, Hemmick TK, Hill JC, Hill K, Hollis RS, Homma K, Hong B, Hoshino T, Hotvedt N, Huang J, Huang S, Imai K, Imrek J, Inaba M, Iordanova A, Isenhower D, Ito Y, Ivanishchev D, Jacak BV, Jezghani M, Ji Z, Jiang X, Johnson BM, Jorjadze V, Jouan D, Jumper DS, Kang JH, Kapukchyan D, Karthas S, Kawall D, Kazantsev AV, Khachatryan V, Khanzadeev A, Kim C, Kim DJ, Kim EJ, Kim M, Kim MH, Kincses D, Kistenev E, Klatsky J, Kline P, Koblesky T, Kotov D, Kudo S, Kurita K, Kwon Y, Lajoie JG, Lallow EO, Lebedev A, Lee S, Leitch MJ, Leung YH, Lewis NA, Li X, Lim SH, Liu LD, Liu MX, Loggins VR, Lökös S, Lovasz K, Lynch D, Majoros T, Makdisi YI, Makek M, Malaev M, Manko VI, Mannel E, Masuda H, McCumber M, McGaughey PL, McGlinchey D, McKinney C, Mendoza M, Metzger WJ, Mignerey AC, Mihalik DE, Milov A, Mishra DK, Mitchell JT, Mitsuka G, Miyasaka S, Mizuno S, Montuenga P, Moon T, Morrison DP, Morrow SIM, Murakami T, Murata J, Nagai K, Nagashima K, Nagashima T, Nagle JL, Nagy MI, Nakagawa I, Nakagomi H, Nakano K, Nattrass C, Niida T, Nouicer R, Novák T, Novitzky N, Novotny R, Nyanin AS, O'Brien E, Ogilvie CA, Orjuela Koop JD, Osborn JD, Oskarsson A, Ottino GJ, Ozawa K, Pantuev V, Papavassiliou V, Park JS, Park S, Pate SF, Patel M, Peng W, Perepelitsa DV, Perera GDN, Peressounko DY, PerezLara CE, Perry J, Petti R, Phipps M, Pinkenburg C, Pisani RP, Pun A, Purschke ML, Radzevich PV, Read KF, Reynolds D, Riabov V, Riabov Y, Richford D, Rinn T, Rolnick SD, Rosati M, Rowan Z, Runchey J, Safonov AS, Sakaguchi T, Sako H, Samsonov V, Sarsour M, Sato K, Sato S, Schaefer B, Schmoll BK, Sedgwick K, Seidl R, Sen A, Seto R, Sexton A, Sharma D, Shein I, Shibata TA, Shigaki K, Shimomura M, Shioya T, Shukla P, Sickles A, Silva CL, Silvermyr D, Singh BK, Singh CP, Singh V, Skoby MJ, Slunečka M, Smith KL, Snowball M, Soltz RA, Sondheim WE, Sorensen SP, Sourikova IV, Stankus PW, Stoll SP, Sugitate T, Sukhanov A, Sumita T, Sun J, Syed S, Sziklai J, Takeda A, Tanida K, Tannenbaum MJ, Tarafdar S, Taranenko A, Tarnai G, Tieulent R, Timilsina A, Todoroki T, Tomášek M, Towell CL, Towell RS, Tserruya I, Ueda Y, Ujvari B, van Hecke HW, Vazquez-Carson S, Velkovska J, Virius M, Vrba V, Vukman N, Wang XR, Wang Z, Watanabe Y, Watanabe YS, Wong CP, Woody CL, Xu C, Xu Q, Xue L, Yalcin S, Yamaguchi YL, Yamamoto H, Yanovich A, Yin P, Yoo JH, Yoon I, Yu H, Yushmanov IE, Zajc WA, Zelenski A, Zharko S, Zou L; PHENIX Collaboration.

Phys Rev Lett. 2018 Jan 12;120(2):022001. doi: 10.1103/PhysRevLett.120.022001.

PMID:
29376675
45.

Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group.

Sánchez-Jimeno C, Escámez MJ, Ayuso C, Trujillo-Tiebas MJ, Del Río M; en representación de la Cátedra de la Fundación Jiménez Díaz de Medicina Regenerativa y Bioingeniería Tisular, DEBRA-España y de otros profesionales sanitarios.

Actas Dermosifiliogr. 2018 Mar;109(2):104-122. doi: 10.1016/j.ad.2017.08.008. Epub 2017 Nov 26. English, Spanish.

PMID:
29180129
46.

Pilot study of living donor liver transplantation for patients with hepatocellular carcinoma exceeding Milan Criteria (Barcelona Clinic Liver Cancer extended criteria).

Llovet JM, Pavel M, Rimola J, Diaz MA, Colmenero J, Saavedra-Perez D, Fondevila C, Ayuso C, Fuster J, Ginès P, Bruix J, Garcia-Valdecasas JC.

Liver Transpl. 2018 Mar;24(3):369-379. doi: 10.1002/lt.24977.

47.

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg.

Zurita-Díaz F, Galera-Monge T, Moreno-Izquierdo A, Corton M, Ayuso C, Garesse R, Gallardo ME.

Stem Cell Res. 2017 Oct;24:81-84. doi: 10.1016/j.scr.2017.08.017. Epub 2017 Aug 19.

48.

[Patients organizations and new drug approval in the US. Eteplirsen and Duchenne muscular dystrophy case].

Dal-Ré R, Lopez de Munain A, Ayuso C.

Rev Neurol. 2017 Oct 16;65(8):373-380. Review. Spanish.

49.

USH2A Gene Editing Using the CRISPR System.

Fuster-García C, García-García G, González-Romero E, Jaijo T, Sequedo MD, Ayuso C, Vázquez-Manrique RP, Millán JM, Aller E.

Mol Ther Nucleic Acids. 2017 Sep 15;8:529-541. doi: 10.1016/j.omtn.2017.08.003. Epub 2017 Aug 12.

50.

Complete response under sorafenib in patients with hepatocellular carcinoma: Relationship with dermatologic adverse events.

Rimola J, Díaz-González Á, Darnell A, Varela M, Pons F, Hernandez-Guerra M, Delgado M, Castroagudin J, Matilla A, Sangro B, Rodriguez de Lope C, Sala M, Gonzalez C, Huertas C, Minguez B, Ayuso C, Bruix J, Reig M.

Hepatology. 2018 Feb;67(2):612-622. doi: 10.1002/hep.29515. Epub 2018 Jan 2.

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