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Items: 1 to 50 of 425

1.

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. 2018 Jul 4. doi: 10.1007/s00439-018-1896-x. [Epub ahead of print]

PMID:
29974297
2.

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.

3.

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
4.

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.

5.

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.

PMID:
29571804
6.

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
7.

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. 2018 Feb 20. doi: 10.1007/s00439-018-1875-2. [Epub ahead of print]

PMID:
29464339
8.

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.

9.

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 Feb 15. doi: 10.1038/gim.2017.200. [Epub ahead of print]

PMID:
29446767
10.

[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.

11.

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
12.

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
13.

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
14.

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.

PMID:
29140601
15.

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.

16.

[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.

17.

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.

18.

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. 2017 Sep 12. doi: 10.1002/hep.29515. [Epub ahead of print]

19.

Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects.

Gomez-Sanchez CI, Carballo JJ, Riveiro-Alvarez R, Soto-Insuga V, Rodrigo M, Mahillo-Fernandez I, Abad-Santos F, Dal-Ré R, Ayuso C.

Sci Rep. 2017 Sep 4;7(1):10391. doi: 10.1038/s41598-017-10912-y.

20.

Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

Tatour Y, Sanchez-Navarro I, Chervinsky E, Hakonarson H, Gawi H, Tahsin-Swafiri S, Leibu R, Lopez-Molina MI, Fernandez-Sanz G, Ayuso C, Ben-Yosef T.

J Med Genet. 2017 Aug 9. pii: jmedgenet-2017-104632. doi: 10.1136/jmedgenet-2017-104632. [Epub ahead of print]

PMID:
28794130
21.

An Efficient FLP-Based Toolkit for Spatiotemporal Control of Gene Expression in Caenorhabditis elegans.

Muñoz-Jiménez C, Ayuso C, Dobrzynska A, Torres-Mendéz A, Ruiz PC, Askjaer P.

Genetics. 2017 Aug;206(4):1763-1778. doi: 10.1534/genetics.117.201012. Epub 2017 Jun 23.

PMID:
28646043
22.

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.

Ferre-Fernández JJ, Aroca-Aguilar JD, Medina-Trillo C, Bonet-Fernández JM, Méndez-Hernández CD, Morales-Fernández L, Corton M, Cabañero-Valera MJ, Gut M, Tonda R, Ayuso C, Coca-Prados M, García-Feijoo J, Escribano J.

Sci Rep. 2017 Apr 11;7:46175. doi: 10.1038/srep46175.

23.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P; UK Inherited Retinal Dystrophy Consortium, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF.

Am J Hum Genet. 2017 Apr 6;100(4):592-604. doi: 10.1016/j.ajhg.2017.02.008. Epub 2017 Mar 9.

24.

Colon cancer modulation by a diabetic environment: A single institutional experience.

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

PLoS One. 2017 Mar 2;12(3):e0172300. doi: 10.1371/journal.pone.0172300. eCollection 2017.

25.

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Blanco-Kelly F, Palomares M, Vallespín E, Villaverde C, Martín-Arenas R, Vélez-Monsalve C, Lorda-Sánchez I, Nevado J, Trujillo-Tiebas MJ, Lapunzina P, Ayuso C, Corton M.

PLoS One. 2017 Feb 23;12(2):e0172363. doi: 10.1371/journal.pone.0172363. eCollection 2017.

26.

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

Martin-Merida I, Sanchez-Alcudia R, Fernandez-San Jose P, Blanco-Kelly F, Perez-Carro R, Rodriguez-Jacy da Silva L, Almoguera B, Garcia-Sandoval B, Lopez-Molina MI, Avila-Fernandez A, Carballo M, Corton M, Ayuso C.

Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1045-1053. doi: 10.1167/iovs.16-20515.

PMID:
28192796
27.

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.

Blanco-Kelly F, Rodrigues-Jacy da Silva L, Sanchez-Navarro I, Riveiro-Alvarez R, Lopez-Martinez MA, Corton M, Ayuso C.

BMC Med Genet. 2017 Jan 7;18(1):1. doi: 10.1186/s12881-016-0364-5.

28.

2017 update on the relationship between diabetes and colorectal cancer: epidemiology, potential molecular mechanisms and therapeutic implications.

González N, Prieto I, Del Puerto-Nevado L, Portal-Nuñez S, Ardura JA, Corton M, Fernández-Fernández B, Aguilera O, Gomez-Guerrero C, Mas S, Moreno JA, Ruiz-Ortega M, Sanz AB, Sanchez-Niño MD, Rojo F, Vivanco F, Esbrit P, Ayuso C, Alvarez-Llamas G, Egido J, García-Foncillas J, Ortiz A; DiabetesCancerConnect Consortium.

Oncotarget. 2017 Mar 14;8(11):18456-18485. doi: 10.18632/oncotarget.14472. Review.

29.

Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz.

Ortiz-Cabrera NV, Gallego-Merlo J, Vélez-Monsalve C, de Nicolas R, Mas SF, Ayuso C, Trujillo-Tiebas MJ.

Mol Genet Metab Rep. 2016 Nov 13;9:79-85. eCollection 2016 Dec.

30.

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.

Corton M, Avila-Fernández A, Campello L, Sánchez M, Benavides B, López-Molina MI, Fernández-Sánchez L, Sánchez-Alcudia R, da Silva LR, Reyes N, Martín-Garrido E, Zurita O, Fernández-San José P, Pérez-Carro R, García-García F, Dopazo J, García-Sandoval B, Cuenca N, Ayuso C.

Sci Rep. 2016 Oct 13;6:35370. doi: 10.1038/srep35370.

31.

Comparison of three magnetic resonance enterography indices for grading activity in Crohn's disease.

Rimola J, Alvarez-Cofiño A, Pérez-Jeldres T, Ayuso C, Alfaro I, Rodríguez S, Ricart E, Ordás I, Panés J.

J Gastroenterol. 2017 May;52(5):585-593. doi: 10.1007/s00535-016-1253-6. Epub 2016 Sep 6.

PMID:
27599973
32.

Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.

Galera-Monge T, Zurita-Díaz F, Moreno-Izquierdo A, Fraga MF, Fernández AF, Ayuso C, Garesse R, Gallardo ME.

Stem Cell Res. 2016 May;16(3):673-6. doi: 10.1016/j.scr.2016.03.011. Epub 2016 Apr 13.

33.

Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.

Zurita-Díaz F, Galera-Monge T, Moreno-Izquierdo A, Fraga MF, Ayuso C, Fernández AF, Garesse R, Gallardo ME.

Stem Cell Res. 2016 Jan;16(1):124-7. doi: 10.1016/j.scr.2015.12.019. Epub 2015 Dec 29.

34.

Identification of Conserved MEL-28/ELYS Domains with Essential Roles in Nuclear Assembly and Chromosome Segregation.

Gómez-Saldivar G, Fernandez A, Hirano Y, Mauro M, Lai A, Ayuso C, Haraguchi T, Hiraoka Y, Piano F, Askjaer P.

PLoS Genet. 2016 Jun 24;12(6):e1006131. doi: 10.1371/journal.pgen.1006131. eCollection 2016 Jun.

35.

Conclusive HCC diagnosis with hepatocyte-specific contrast-enhanced magnetic resonance imaging? Not yet.

Forner A, Rimola J, Ayuso C.

J Hepatol. 2016 Sep;65(3):648-9. doi: 10.1016/j.jhep.2016.05.047. Epub 2016 Jun 14. No abstract available.

PMID:
27312943
36.

Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C.

Sci Rep. 2016 Apr 22;6:24843. doi: 10.1038/srep24843. No abstract available.

37.

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

Sanchez-Alcudia R, Garcia-Hoyos M, Lopez-Martinez MA, Sanchez-Bolivar N, Zurita O, Gimenez A, Villaverde C, Rodrigues-Jacy da Silva L, Corton M, Perez-Carro R, Torriano S, Kalatzis V, Rivolta C, Avila-Fernandez A, Lorda I, Trujillo-Tiebas MJ, Garcia-Sandoval B, Lopez-Molina MI, Blanco-Kelly F, Riveiro-Alvarez R, Ayuso C.

PLoS One. 2016 Apr 12;11(4):e0151943. doi: 10.1371/journal.pone.0151943. eCollection 2016.

38.

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis.

Corton M, Nishiguchi KM, Avila-Fernández A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C.

PLoS One. 2016 Mar 31;11(3):e0153121. doi: 10.1371/journal.pone.0153121. eCollection 2016. No abstract available.

39.

[Diagnosis and treatment of hepatocellular carcinoma. Update consensus document from the AEEH, SEOM, SERAM, SERVEI and SETH].

Forner A, Reig M, Varela M, Burrel M, Feliu J, Briceño J, Sastre J, Martí-Bonmati L, Llovet JM, Bilbao JI, Sangro B, Pardo F, Ayuso C, Bru C, Tabernero J, Bruix J.

Med Clin (Barc). 2016 Jun 3;146(11):511.e1-511.e22. doi: 10.1016/j.medcli.2016.01.028. Epub 2016 Mar 11. Spanish.

PMID:
26971984
40.

Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion.

Gómez-Tortosa E, Prieto-Jurczynska C, Serrano S, Franco-Macías E, Olivié L, Gallego J, Guerrero-López R, Trujillo-Tiebas MJ, Ayuso C, García Ruiz P, Pérez-Pérez J, Sainz MJ.

J Alzheimers Dis. 2016 Feb 26;52(1):25-31. doi: 10.3233/JAD-150922.

PMID:
26967212
41.

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.

Blanco-Kelly F, García Hoyos M, Lopez Martinez MA, Lopez-Molina MI, Riveiro-Alvarez R, Fernandez-San Jose P, Avila-Fernandez A, Corton M, Millan JM, García Sandoval B, Ayuso C.

PLoS One. 2016 Feb 24;11(2):e0149473. doi: 10.1371/journal.pone.0149473. eCollection 2016.

42.

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C.

Sci Rep. 2016 Jan 25;6:19531. doi: 10.1038/srep19531. Erratum in: Sci Rep. 2016 Apr 22;6:24843.

43.

Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity.

Cruz-Bermúdez A, Vicente-Blanco RJ, Hernández-Sierra R, Montero M, Alvarez J, González Manrique M, Blázquez A, Martín MA, Ayuso C, Garesse R, Fernández-Moreno MA.

PLoS One. 2016 Jan 19;11(1):e0146816. doi: 10.1371/journal.pone.0146816. eCollection 2016.

44.

Attention deficit hyperactivity disorder: genetic association study in a cohort of Spanish children.

Gomez-Sanchez CI, Riveiro-Alvarez R, Soto-Insuga V, Rodrigo M, Tirado-Requero P, Mahillo-Fernandez I, Abad-Santos F, Carballo JJ, Dal-Ré R, Ayuso C.

Behav Brain Funct. 2016 Jan 8;12(1):2. doi: 10.1186/s12993-015-0084-6.

45.

Functional Interplay of Two Paralogs Encoding SWI/SNF Chromatin-Remodeling Accessory Subunits During Caenorhabditis elegans Development.

Ertl I, Porta-de-la-Riva M, Gómez-Orte E, Rubio-Peña K, Aristizábal-Corrales D, Cornes E, Fontrodona L, Osteikoetxea X, Ayuso C, Askjaer P, Cabello J, Cerón J.

Genetics. 2016 Mar;202(3):961-75. doi: 10.1534/genetics.115.183533. Epub 2016 Jan 6.

46.

Patients with relapsed/refractory chronic lymphocytic leukaemia may benefit from inclusion in clinical trials irrespective of the therapy received: a case-control retrospective analsysis.

Esteban D, Tovar N, Jiménez R, Santacruz R, Baumann T, Pastor MC, de la Riva A, Carrera E, Chaves S, Royo C, Navarro A, Rodríguez S, Ayuso C, Riu G, Creus N, Gómez B, Giné E, López-Guillermo A, Delgado J.

Blood Cancer J. 2015 Oct 2;5:e356. doi: 10.1038/bcj.2015.78. No abstract available.

47.

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

Nikopoulos K, Avila-Fernandez A, Corton M, Lopez-Molina MI, Perez-Carro R, Bontadelli L, Di Gioia SA, Zurita O, Garcia-Sandoval B, Rivolta C, Ayuso C.

Sci Rep. 2015 Sep 9;5:13902. doi: 10.1038/srep13902.

48.

New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.

de Sousa Dias M, Hernan I, Delás B, Pascual B, Borràs E, Gamundi MJ, Mañé B, Fernández-San José P, Ayuso C, Carballo M.

Mol Vis. 2015 Aug 18;21:857-70. eCollection 2015.

49.

Human iPSC derived disease model of MERTK-associated retinitis pigmentosa.

Lukovic D, Artero Castro A, Delgado AB, Bernal Mde L, Luna Pelaez N, Díez Lloret A, Perez Espejo R, Kamenarova K, Fernández Sánchez L, Cuenca N, Cortón M, Avila Fernandez A, Sorkio A, Skottman H, Ayuso C, Erceg S, Bhattacharya SS.

Sci Rep. 2015 Aug 11;5:12910. doi: 10.1038/srep12910.

50.

Contribution of JAK2 mutations to T-cell lymphoblastic lymphoma development.

Roncero AM, López-Nieva P, Cobos-Fernández MA, Villa-Morales M, González-Sánchez L, López-Lorenzo JL, Llamas P, Ayuso C, Rodríguez-Pinilla SM, Arriba MC, Piris MA, Fernández-Navarro P, Fernández AF, Fraga MF, Santos J, Fernández-Piqueras J.

Leukemia. 2016 Jan;30(1):94-103. doi: 10.1038/leu.2015.202. Epub 2015 Jul 28.

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