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Page 1
Showing results for vergara es
Search for Vergaray ES instead (1 results)
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA; NHLBI Exome Sequencing Project; Bamshad MJ. Tabor HK, et al. Am J Hum Genet. 2014 Aug 7;95(2):183-93. doi: 10.1016/j.ajhg.2014.07.006. Epub 2014 Jul 31. Am J Hum Genet. 2014. PMID: 25087612 Free PMC article.
Exome sequencing (ES) is rapidly being deployed for use in clinical settings despite limited empirical data about the number and types of incidental results (with potential clinical utility) that could be offered for return to an individual. We analyzed deidentified ES …
Exome sequencing (ES) is rapidly being deployed for use in clinical settings despite limited empirical data about the number and type …
Clinical Characteristics of Anti-Synthetase Syndrome: Analysis From the Classification Criteria for Anti-Synthetase Syndrome Project.
Faghihi-Kashani S, Yoshida A, Bozan F, Zanframundo G, Rozza D, Loganathan A, Dourado E, Sambataro G, Bauer-Ventura I, Bae SS, Lim D, Rivero-Gallegos D, Yamano Y, Selva-O'Callaghan A, Mammen AL, Scirè CA, Montecucco C, Oddis CV, Fiorentino D, Bonella F, Miller FW, Lundberg IE, Schmidt J, Rojas-Serrano J, Hudson M, Kuwana M, González-Gay MA, McHugh N, Corte TJ, Doyle TJ, Werth VP, Gupta L, Perez Roman DI, Bianchessi LM, Devarasetti PK, Shinjo SK, Luppi F, Cavazzana I, Moghadam-Kia S, Fornaro M, Volkmann ER, Piga M, Loarce-Martos J, De Luca G, Knitza J, Wolff-Cecchi V, Sebastiani M, Schiffenbauer A, Rider LG, Campanilho-Marques R, Marts L, Bravi E, Gunawardena H, Aggarwal R, Cavagna L; Classification Criteria for Anti‐Synthetase Syndrome Project participating investigators. Faghihi-Kashani S, et al. Arthritis Rheumatol. 2025 Apr;77(4):477-489. doi: 10.1002/art.43038. Epub 2024 Dec 17. Arthritis Rheumatol. 2025. PMID: 39467037 Free PMC article.
Reversion of metabolic dysfunction-associated steatohepatitis by skeletal muscle-directed FGF21 gene therapy.
Jimenez V, Sacristan V, Jambrina C, Jaen ML, Casana E, Muñoz S, Marcó S, Molas M, Garcia M, Grass I, León X, Elias I, Ribera A, Elias G, Sanchez V, Vilà L, Casellas A, Ferre T, Rodó J, Carretero A, Pumarola M, Navarro M, Andaluz A, Moll X, Añor S, Franckhauser S, Vergara M, Caixàs A, Bosch F. Jimenez V, et al. Mol Ther. 2024 Dec 4;32(12):4285-4302. doi: 10.1016/j.ymthe.2024.10.023. Epub 2024 Oct 28. Mol Ther. 2024. PMID: 39489916 Free PMC article.
Cannabidiol ameliorates mitochondrial disease via PPARγ activation in preclinical models.
Puighermanal E, Luna-Sánchez M, Gella A, van der Walt G, Urpi A, Royo M, Tena-Morraja P, Appiah I, de Donato MH, Menardy F, Bianchi P, Esteve-Codina A, Rodríguez-Pascau L, Vergara C, Gómez-Pallarès M, Marsicano G, Bellocchio L, Martinell M, Sanz E, Jurado S, Soriano FX, Pizcueta P, Quintana A. Puighermanal E, et al. Nat Commun. 2024 Sep 4;15(1):7730. doi: 10.1038/s41467-024-51884-8. Nat Commun. 2024. PMID: 39231983 Free PMC article.
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Bellos E, Santillo D, Vantourout P, Jackson HR, Duret A, Hearn H, Seeleuthner Y, Talouarn E, Hodeib S, Patel H, Powell O, Yeoh S, Mustafa S, Habgood-Coote D, Nichols S, Estramiana Elorrieta L, D'Souza G, Wright VJ, Estrada-Rivadeneyra D, Tremoulet AH, Dummer KB, Netea SA, Condino-Neto A, Lau YL, Núñez Cuadros E, Toubiana J, Holanda Pena M, Rieux-Laucat F, Luyt CE, Haerynck F, Mège JL, Chakravorty S, Haddad E, Morin MP, Metin Akcan Ö, Keles S, Emiroglu M, Alkan G, Tüter Öz SK, Elmas Bozdemir S, Morelle G, Volokha A, Kendir-Demirkol Y, Sözeri B, Coskuner T, Yahsi A, Gulhan B, Kanik-Yuksek S, Bayhan GI, Ozkaya-Parlakay A, Yesilbas O, Hatipoglu N, Ozcelik T, Belot A, Chopin E, Barlogis V, Sevketoglu E, Menentoglu E, Gayretli Aydin ZG, Bloomfield M, AlKhater SA, Cyrus C, Stepanovskiy Y, Bondarenko A, Öz FN, Polat M, Fremuth J, Lebl J, Geraldo A, Jouanguy E; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS; Carter MJ, Wellman P, Peters M, Pérez de Diego R, Edwards LA, Chiu C, Noursadeghi M, Bolze A, Shimizu C, Kaforou M, Hamilton MS, Herberg JA, Schmitt EG, Rodriguez-Palmero A, Pujol A, Kim J, Cobat A, Abel L, Zhang SY, Casanova JL, Kuijpers TW, Burns JC, Levin M, Hayday AC, Sancho-Shim… See abstract for full author list ➔ Bellos E, et al. J Exp Med. 2024 Dec 2;221(12):e20240699. doi: 10.1084/jem.20240699. Epub 2024 Nov 22. J Exp Med. 2024. PMID: 39576310 Free PMC article.
Multi-ancestry genome-wide association study of asthma exacerbations.
Herrera-Luis E, Ortega VE, Ampleford EJ, Sio YY, Granell R, de Roos E, Terzikhan N, Vergara EE, Hernandez-Pacheco N, Perez-Garcia J, Martin-Gonzalez E, Lorenzo-Diaz F, Hashimoto S, Brinkman P; U-BIOPRED Study Group; Jorgensen AL, Yan Q, Forno E, Vijverberg SJ, Lethem R, Espuela-Ortiz A, Gorenjak M, Eng C, González-Pérez R, Hernández-Pérez JM, Poza-Guedes P, Sardón O, Corcuera P, Hawkins GA, Marsico A, Bahmer T, Rabe KF, Hansen G, Kopp MV, Rios R, Cruz MJ, González-Barcala FJ, Olaguibel JM, Plaza V, Quirce S, Canino G, Cloutier M, Del Pozo V, Rodriguez-Santana JR, Korta-Murua J, Villar J, Potočnik U, Figueiredo C, Kabesch M, Mukhopadhyay S, Pirmohamed M, Hawcutt DB, Melén E, Palmer CN, Turner S, Maitland-van der Zee AH, von Mutius E, Celedón JC, Brusselle G, Chew FT, Bleecker E, Meyers D, Burchard EG, Pino-Yanes M. Herrera-Luis E, et al. Pediatr Allergy Immunol. 2022 Jun;33(6):e13802. doi: 10.1111/pai.13802. Pediatr Allergy Immunol. 2022. PMID: 35754128 Free PMC article.
Neoadjuvant triplet immune checkpoint blockade in newly diagnosed glioblastoma.
Long GV, Shklovskaya E, Satgunaseelan L, Mao Y, da Silva IP, Perry KA, Diefenbach RJ, Gide TN, Shivalingam B, Buckland ME, Gonzalez M, Caixeiro N, Vergara IA, Bai X, Rawson RV, Hsiao E, Palendira U, Phan TG, Menzies AM, Carlino MS, Quek C, Grimmond SM, Vissers JHA, Yeo D, Rasko JEJ, Khasraw M, Neyns B, Reardon DA, Ashley DM, Wheeler H, Back M, Scolyer RA, Drummond J, Wilmott JS, Rizos H. Long GV, et al. Nat Med. 2025 May;31(5):1557-1566. doi: 10.1038/s41591-025-03512-1. Epub 2025 Feb 27. Nat Med. 2025. PMID: 40016450 Free PMC article.
Poster presentations.
Aksu F, Topacoglu H, Arman C, Atac A, Tetik S, Hasanovic A, Kulenovic A, Mornjakovic Z, Pikula B, Sarac-Hadzihalilovic A, Voljevica A, Bamac B, Colak T, Alemdar M, Dundar G, Selekler M, Dincer O, Colak E, Ozbek A, Kilic C, Kamburoglu K, Ozen T, Kavak V, Kirici Y, Oztas E, Soysal HA, Unur E, Ekinci N, Karaca O, Malakhova O, Kocaoglu M, Toker S, Taser F, Kilincoglu V, Yurtgun MF, Dalcik C, Zeybek A, Baroncini M, Peltier J, Jissendi P, Pruvo JP, Francke JP, Prevot V, Kosif R, Arifoglu Y, Diramali M, Sarsilmaz M, Kose E, Ogeturk M, Akpinar B, Kus I, Meydan S, Kara A, Kurtoglu Z, Tekdemir I, Elhan A, Bas O, Odaci E, Mollaoglu H, Ucok K, Kaplan S, Senoglu M, Nacitarhan V, Kurutas EB, Senoglu N, Altun I, Atli Y, Ozbag D, Karakas S, Bilgin MD, Tellioglu AM, Ozlem S, Akcanal B, Yildiz Y, Gunes H, Kose H, Uzum I, Gundogmus UN, Caglayan C, Pavlova V, Dimitrova M, Georgieva L, Nikolova E, Uzmansel D, Ozturk NC, Saylam CY, Ozgiray E, Orhan M, Cagli S, Zileli M, Ozkan D, Akkaya T, Comert A, Balikci N, Ozdemir E, Gumus H, Ergul Z, Kaya O, Altun S, Unlu RE, Orbay H, Kim DI, Han SH, Kim YS, Kim HJ, Lee KS, Elcioglu O, Ozden H, Guven G, Imre N, Yalcin B, Ozan H, Akyer P, Guvencer M, Karatosun V, Sa… See abstract for full author list ➔ Aksu F, et al. Surg Radiol Anat. 2009 Sep;31 Suppl 1:95-229. doi: 10.1007/BF03371486. Surg Radiol Anat. 2009. PMID: 27392492 No abstract available.
Aquagenic keratoderma.
Betlloch I, Vergara G, Albares MP, Pascual JC, Silvestre JF, Botella R. Betlloch I, et al. J Eur Acad Dermatol Venereol. 2003 May;17(3):306-7. doi: 10.1046/j.1468-3083.2003.00799.x. J Eur Acad Dermatol Venereol. 2003. PMID: 12702072
367 results