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1.

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT Jr, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Uitterlinden AGA, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossù P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y; Alzheimer Disease Genetics Consortium (ADGC); European Alzheimer’s Disease Initiative (EADI); Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE); Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, O'Donovan MC, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA.

Nat Genet. 2019 Aug 15. doi: 10.1038/s41588-019-0495-7. [Epub ahead of print]

PMID:
31417202
2.

NFKBIZ and CW6 in Adalimumab Response Among Psoriasis Patients: Genetic Association and Alternative Transcript Analysis.

Coto-Segura P, González-Lara L, Batalla A, Eiris N, Queiro R, Coto E.

Mol Diagn Ther. 2019 Jul 2. doi: 10.1007/s40291-019-00409-x. [Epub ahead of print]

PMID:
31267486
3.

Assessment of the Antioxidant/Hypolipidemic Relationship of Sideritis hyssopifolia in an Experimental Animal Model.

Coto E, Fernandez N, Garcia JJ, Diez MJ, Sahagun AM, Sierra M.

Molecules. 2019 May 29;24(11). pii: E2049. doi: 10.3390/molecules24112049.

4.

Gut microbiota dysbiosis in a cohort of patients with psoriasis.

Hidalgo-Cantabrana C, Gómez J, Delgado S, Requena-López S, Queiro-Silva R, Margolles A, Coto E, Sánchez B, Coto-Segura P.

Br J Dermatol. 2019 Mar 28. doi: 10.1111/bjd.17931. [Epub ahead of print]

PMID:
30920647
5.

The Epistasis Project: A Multi-Cohort Study of the Effects of BDNF, DBH, and SORT1 Epistasis on Alzheimer's Disease Risk.

Belbin O, Morgan K, Medway C, Warden D, Cortina-Borja M, van Duijn CM, Adams HHH, Frank-Garcia A, Brookes K, Sánchez-Juan P, Alvarez V, Heun R, Kölsch H, Coto E, Kehoe PG, Rodriguez-Rodriguez E, Bullido MJ, Ikram MA, Smith AD, Lehmann DJ.

J Alzheimers Dis. 2019;68(4):1535-1547. doi: 10.3233/JAD-181116.

PMID:
30909233
6.

Gene variants in the NF-KB pathway (NFKB1, NFKBIA, NFKBIZ) and risk for early-onset coronary artery disease.

Coto E, Reguero JR, Avanzas P, Pascual I, Martín M, Hevia S, Morís C, Díaz-Molina B, Lambert JL, Alonso B, Cuesta-LLavona E, Díaz-Corte C, Gómez J.

Immunol Lett. 2019 Apr;208:39-43. doi: 10.1016/j.imlet.2019.02.007. Epub 2019 Mar 19.

PMID:
30902734
7.

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT Jr, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Andre Uitterlinden AG, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossù P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y, Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, C O'Donovan M, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA; Alzheimer Disease Genetics Consortium (ADGC),; European Alzheimer’s Disease Initiative (EADI),; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE),; Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES),.

Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2. Epub 2019 Feb 28. Erratum in: Nat Genet. 2019 Aug 15;:.

PMID:
30820047
8.

Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease.

Dalmasso MC, Brusco LI, Olivar N, Muchnik C, Hanses C, Milz E, Becker J, Heilmann-Heimbach S, Hoffmann P, Prestia FA, Galeano P, Avalos MSS, Martinez LE, Carulla ME, Azurmendi PJ, Liberczuk C, Fezza C, Sampaño M, Fierens M, Jemar G, Solis P, Medel N, Lisso J, Sevillano Z, Bosco P, Bossù P, Spalletta G, Galimberti D, Mancuso M, Nacmias B, Sorbi S, Mecocci P, Pilotto A, Caffarra P, Panza F, Bullido M, Clarimon J, Sánchez-Juan P, Coto E, Sanchez-Garcia F, Graff C, Ingelsson M, Bellenguez C, Castaño EM, Kairiyama C, Politis DG, Kochen S, Scaro H, Maier W, Jessen F, Mangone CA, Lambert JC, Morelli L, Ramirez A.

Transl Psychiatry. 2019 Jan 31;9(1):55. doi: 10.1038/s41398-019-0394-9.

9.

Variants in cardiac GATA genes associated with bicuspid aortic valve.

Alonso-Montes C, Martín M, Martínez-Arias L, Coto E, Naves-Díaz M, Morís C, Cannata-Andía JB, Rodríguez I.

Eur J Clin Invest. 2018 Dec;48(12):e13027. doi: 10.1111/eci.13027. Epub 2018 Oct 8.

PMID:
30229885
10.

Salt-losing tubulopathy and chronic dermatitis.

Fernández-Fernández M, Gil-Peña H, Coto E, García Pérez N, Santos F.

Kidney Int. 2018 Aug;94(2):433. doi: 10.1016/j.kint.2017.12.007. No abstract available.

PMID:
30031451
11.

Genetic variation at the long noncoding RNA H19 gene is associated with the risk of hypertrophic cardiomyopathy.

Gómez J, Lorca R, Reguero JR, Martín M, Morís C, Alonso B, Iglesias S, Díaz-Molina B, Avanzas P, Coto E.

Epigenomics. 2018 Jul;10(7):865-873. doi: 10.2217/epi-2017-0175. Epub 2018 Jul 2.

PMID:
29962225
12.

Genetic Variation in the H19-IGF2 Cluster Might Confer Risk of Developing Impaired Renal Function.

Coto E, Díaz Corte C, Tranche S, Gómez J, Reguero JR, Alonso B, Iglesias S, Gil-Peña H, Yin X, Coto-Segura P.

DNA Cell Biol. 2018 Jul;37(7):617-625. doi: 10.1089/dna.2017.4135. Epub 2018 Jun 11.

PMID:
29889555
13.

Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.

Alonso-Varela M, Gil-Peña H, Coto E, Gómez J, Rodríguez J, Rodríguez-Rubio E, Santos F; RenalTube Group.

Pediatr Nephrol. 2018 Sep;33(9):1523-1529. doi: 10.1007/s00467-018-3965-8. Epub 2018 May 3.

PMID:
29725771
14.

Insights Into Hypertrophic Cardiomyopathy Evaluation Through Follow-up of a Founder Pathogenic Variant.

Lorca R, Gómez J, Martín M, Cabanillas R, Calvo J, León V, Pascual I, Morís C, Coto E, R Reguero JJ.

Rev Esp Cardiol (Engl Ed). 2019 Feb;72(2):138-144. doi: 10.1016/j.rec.2018.02.009. Epub 2018 Apr 6. English, Spanish.

PMID:
29631964
15.

Gene variants in the NF-KB pathway (NFKB1, NFKBIA, NFKBIZ) and their association with type 2 diabetes and impaired renal function.

Coto E, Díaz-Corte C, Tranche S, Gómez J, Alonso B, Iglesias S, Reguero JR, López-Larrea C, Coto-Segura P.

Hum Immunol. 2018 Jun;79(6):494-498. doi: 10.1016/j.humimm.2018.03.008. Epub 2018 Mar 27.

PMID:
29601852
16.

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.

Gómez J, Gil-Peña H, Santos F, Coto E, Arango A, Hernandez O, Rodríguez J, Nadal I, Cantos V, Chocrón S, Vergara I, Madrid Á, Vazquez C, González LE; Fiona Blanco and the RenalTube Group.

Pediatr Res. 2018 Jan;83(1-1):190. doi: 10.1038/pr.2017.242. Epub 2017 Nov 1.

PMID:
29437164
17.

Role of syncope in predicting adverse outcomes in patients with suspected Brugada syndrome undergoing standardized flecainide testing.

Pablo Flórez J, García D, Valverde I, Rubín J, Pérez D, González-Vasserot M, Reguero J, María de la Hera J, Avanzas P, Gómez J, Coto E, Morís C, Calvo D.

Europace. 2018 Jun 1;20(FI1):f64-f71. doi: 10.1093/europace/eux315.

PMID:
29309564
18.

Differential methylation of lncRNA KCNQ1OT1 promoter polymorphism was associated with symptomatic cardiac long QT.

Coto E, Calvo D, Reguero JR, Morís C, Rubín JM, Díaz-Corte C, Gil-Peña H, Alosno B, Iglesias S, Gómez J.

Epigenomics. 2017 Aug;9(8):1049-1057. doi: 10.2217/epi-2017-0024. Epub 2017 Jul 27.

PMID:
28749187
19.

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, Leber M, Chen Y, Albert MS, Riedel-Heller S, Emilsson V, Beekly D, Braae A, Schmidt R, Blacker D, Masullo C, Schmidt H, Doody RS, Spalletta G, Longstreth WT Jr, Fairchild TJ, Bossù P, Lopez OL, Frosch MP, Sacchinelli E, Ghetti B, Yang Q, Huebinger RM, Jessen F, Li S, Kamboh MI, Morris J, Sotolongo-Grau O, Katz MJ, Corcoran C, Dunstan M, Braddel A, Thomas C, Meggy A, Marshall R, Gerrish A, Chapman J, Aguilar M, Taylor S, Hill M, Fairén MD, Hodges A, Vellas B, Soininen H, Kloszewska I, Daniilidou M, Uphill J, Patel Y, Hughes JT, Lord J, Turton J, Hartmann AM, Cecchetti R, Fenoglio C, Serpente M, Arcaro M, Caltagirone C, Orfei MD, Ciaramella A, Pichler S, Mayhaus M, Gu W, Lleó A, Fortea J, Blesa R, Barber IS, Brookes K, Cupidi C, Maletta RG, Carrell D, Sorbi S, Moebus S, Urbano M, Pilotto A, Kornhuber J, Bosco P, Todd S, Craig D, Johnston J, Gill M, Lawlor B, Lynch A, Fox NC, Hardy J; ARUK Consortium, Albin RL, Apostolova LG, Arnold SE, Asthana S, Atwood CS, Baldwin CT, Barnes LL, Barral S, Beach TG, Becker JT, Bigio EH, Bird TD, Boeve BF, Bowen JD, Boxer A, Burke JR, Burns JM, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carlsson CM, Carney RM, Carrasquillo MM, Carroll SL, Diaz CC, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, Dick M, Duara R, Evans DA, Faber KM, Fallon KB, Fardo DW, Farlow MR, Ferris S, Foroud TM, Galasko DR, Gearing M, Geschwind DH, Gilbert JR, Graff-Radford NR, Green RC, Growdon JH, Hamilton RL, Harrell LE, Honig LS, Huentelman MJ, Hulette CM, Hyman BT, Jarvik GP, Abner E, Jin LW, Jun G, Karydas A, Kaye JA, Kim R, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lunetta KL, Lyketsos CG, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Morris JC, Murrell JR, Myers AJ, O'Bryant S, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Perry W, Peskind E, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rogaeva E, Rosen HJ, Rosenberg RN, Sager MA, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Garzia F, Golamaully F, Septier G, Engelborghs S, Vandenberghe R, De Deyn PP, Fernadez CM, Benito YA, Thonberg H, Forsell C, Lilius L, Kinhult-Stählbom A, Kilander L, Brundin R, Concari L, Helisalmi S, Koivisto AM, Haapasalo A, Dermecourt V, Fievet N, Hanon O, Dufouil C, Brice A, Ritchie K, Dubois B, Himali JJ, Keene CD, Tschanz J, Fitzpatrick AL, Kukull WA, Norton M, Aspelund T, Larson EB, Munger R, Rotter JI, Lipton RB, Bullido MJ, Hofman A, Montine TJ, Coto E, Boerwinkle E, Petersen RC, Alvarez V, Rivadeneira F, Reiman EM, Gallo M, O'Donnell CJ, Reisch JS, Bruni AC, Royall DR, Dichgans M, Sano M, Galimberti D, St George-Hyslop P, Scarpini E, Tsuang DW, Mancuso M, Bonuccelli U, Winslow AR, Daniele A, Wu CK; GERAD/PERADES, CHARGE, ADGC, EADI, Peters O, Nacmias B, Riemenschneider M, Heun R, Brayne C, Rubinsztein DC, Bras J, Guerreiro R, Al-Chalabi A, Shaw CE, Collinge J, Mann D, Tsolaki M, Clarimón J, Sussams R, Lovestone S, O'Donovan MC, Owen MJ, Behrens TW, Mead S, Goate AM, Uitterlinden AG, Holmes C, Cruchaga C, Ingelsson M, Bennett DA, Powell J, Golde TE, Graff C, De Jager PL, Morgan K, Ertekin-Taner N, Combarros O, Psaty BM, Passmore P, Younkin SG, Berr C, Gudnason V, Rujescu D, Dickson DW, Dartigues JF, DeStefano AL, Ortega-Cubero S, Hakonarson H, Campion D, Boada M, Kauwe JK, Farrer LA, Van Broeckhoven C, Ikram MA, Jones L, Haines JL, Tzourio C, Launer LJ, Escott-Price V, Mayeux R, Deleuze JF, Amin N, Holmans PA, Pericak-Vance MA, Amouyel P, van Duijn CM, Ramirez A, Wang LS, Lambert JC, Seshadri S, Williams J, Schellenberg GD.

Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17.

20.

Support for Taverna workflows in the VPH-Share cloud platform.

Kasztelnik M, Coto E, Bubak M, Malawski M, Nowakowski P, Arenas J, Saglimbeni A, Testi D, Frangi AF.

Comput Methods Programs Biomed. 2017 Jul;146:37-46. doi: 10.1016/j.cmpb.2017.05.006. Epub 2017 May 20.

21.

Rare genetic variants in GATA transcription factors in patients with hypertrophic cardiomyopathy.

Alonso-Montes C, Rodríguez-Reguero J, Martín M, Gómez J, Coto E, Naves-Díaz M, Morís C, Cannata-Andía JB, Rodríguez I.

J Investig Med. 2017 Jun;65(5):926-934. doi: 10.1136/jim-2016-000364. Epub 2017 Apr 5.

PMID:
28381408
22.

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

Gómez J, Lorca R, Reguero JR, Morís C, Martín M, Tranche S, Alonso B, Iglesias S, Alvarez V, Díaz-Molina B, Avanzas P, Coto E.

Circ Cardiovasc Genet. 2017 Apr;10(2). pii: e001584. doi: 10.1161/CIRCGENETICS.116.001584.

PMID:
28356264
23.

A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry.

Gil-Peña H, Coto E, Santos F, Espino M, Cea Crespo JM, Chantzopoulos G, Komianou F, Gómez J, Alonso B, Iglesias S, Treard C, Vargas-Poussou R; Renaltube Group.

Nefrologia. 2017 Jul - Aug;37(4):423-428. doi: 10.1016/j.nefro.2017.01.007. Epub 2017 Mar 18. English, Spanish.

24.

NFKBIZ in Psoriasis: Assessing the association with gene polymorphisms and report of a new transcript variant.

Coto-Segura P, Gonzalez-Lara L, Gómez J, Eiris N, Batalla A, Gómez C, Requena S, Queiro R, Alonso B, Iglesias S, Coto E.

Hum Immunol. 2017 May - Jun;78(5-6):435-440. doi: 10.1016/j.humimm.2017.02.008. Epub 2017 Mar 1.

PMID:
28259733
25.

An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations.

Coto E, García-Fernández FJ, Calvo D, Salgado-Aranda R, Martín-González J, Alonso B, Iglesias S, Gómez J.

Am J Med Genet A. 2017 Mar;173(3):749-752. doi: 10.1002/ajmg.a.38062. Epub 2016 Nov 21.

PMID:
27868350
26.

IL17RA gene variants and anti-TNF response among psoriasis patients.

Batalla A, Coto E, Gómez J, Eirís N, González-Fernández D, Gómez-De Castro C, Daudén E, Llamas-Velasco M, Prieto-Perez R, Abad-Santos F, Carretero G, García FS, Godoy YB, Cardo LF, Alonso B, Iglesias S, Coto-Segura P.

Pharmacogenomics J. 2018 Jan;18(1):76-80. doi: 10.1038/tpj.2016.70. Epub 2016 Sep 27.

PMID:
27670766
27.

Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.

Jaafar N, Gómez J, Kammoun I, Zairi I, Amara WB, Kachboura S, Kraiem S, Hammami M, Iglesias S, Alonso B, Coto E.

Genet Test Mol Biomarkers. 2016 Nov;20(11):674-679. Epub 2016 Aug 30.

PMID:
27574918
28.

A Single Nucleotide Polymorphism in the Il17ra Promoter Is Associated with Functional Severity of Ankylosing Spondylitis.

Vidal-Castiñeira JR, López-Vázquez A, Diaz-Peña R, Diaz-Bulnes P, Martinez-Camblor P, Coto E, Coto-Segura P, Bruges-Armas J, Pinto JA, Blanco FJ, Sánchez A, Mulero J, Queiro R, Lopez-Larrea C.

PLoS One. 2016 Jul 14;11(7):e0158905. doi: 10.1371/journal.pone.0158905. eCollection 2016.

29.

Surveillance after cardiac arrest in patients with Brugada syndrome without an implantable defibrillator: An alarm effect of the previous syncope.

Calvo D, Flórez JP, Valverde I, Rubín J, Pérez D, Vasserot MG, Rodríguez-Reguero J, Avanzas P, de la Hera JM, Gómez J, Coto E, Martínez-Camblor P, Morís C.

Int J Cardiol. 2016 Sep 1;218:69-74. doi: 10.1016/j.ijcard.2016.05.018. Epub 2016 May 13.

PMID:
27232914
30.

KCNQ1 gene variants in the risk for type 2 diabetes and impaired renal function in the Spanish Renastur cohort.

Riobello C, Gómez J, Gil-Peña H, Tranche S, Reguero JR, de la Hera JM, Delgado E, Calvo D, Morís C, Santos F, Coto-Segura P, Iglesias S, Alonso B, Alvarez V, Coto E.

Mol Cell Endocrinol. 2016 May 15;427:86-91. doi: 10.1016/j.mce.2016.03.007. Epub 2016 Mar 9.

PMID:
26970180
31.

Next generation sequencing of the NOTCH3 gene in a cohort of pulmonary hypertension patients.

Gómez J, Reguero JR, Junquera MR, Alvarez C, Morís C, Alonso B, Iglesias S, Coto E.

Int J Cardiol. 2016 Apr 15;209:149-50. doi: 10.1016/j.ijcard.2016.02.024. Epub 2016 Feb 3. No abstract available.

PMID:
26894465
32.

Common and rare CARD14 gene variants affect the antitumour necrosis factor response among patients with psoriasis.

Coto-Segura P, González-Fernández D, Batalla A, Gómez J, González-Lara L, Queiro R, Alonso B, Iglesias S, Coto E.

Br J Dermatol. 2016 Jul;175(1):134-41. doi: 10.1111/bjd.14461. Epub 2016 Apr 25.

PMID:
26854129
33.

Diagnostic impact of genetic testing in hypertrophic cardiomyopathy: The story of two families.

Lorca R, Martín M, Gómez J, Junquera MR, Morís C, Coto E, Reguero JJR.

Int J Cardiol. 2016 Feb 15;205:161-162. doi: 10.1016/j.ijcard.2015.12.025. Epub 2015 Dec 14. No abstract available.

PMID:
26736093
34.

Assessing the role of TUBA4A gene in frontotemporal degeneration.

Dols-Icardo O, Iborra O, Valdivia J, Pastor P, Ruiz A, López de Munain A, Sánchez-Valle R, Álvarez V, Sánchez-Juan P, Lleó A, Fortea J, Blesa R, Cardona F, Baquero M, Alonso MD, Ortega-Cubero S, Pastor MA, Razquin C, Boada M, Hernández I, Gorostidi A, Moreno F, Zulaika M, Lladó A, Coto E, Combarros O, Pérez-Tur J, Clarimón J; Dementia Genetics Spanish Consortium (DEGESCO).

Neurobiol Aging. 2016 Feb;38:215.e13-215.e14. doi: 10.1016/j.neurobiolaging.2015.10.030. Epub 2015 Nov 5.

PMID:
26675813
35.

The Ups and Downs of Genetic Diagnosis of Hypertrophic Cardiomyopathy.

Gómez J, Reguero JR, Coto E.

Rev Esp Cardiol (Engl Ed). 2016 Jan;69(1):61-8. doi: 10.1016/j.rec.2015.10.001. Epub 2015 Dec 5. Review.

PMID:
26654849
36.

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.

Gómez J, Gil-Peña H, Santos F, Coto E, Arango A, Hernandez O, Rodríguez J, Nadal I, Cantos V, Chocrón S, Vergara I, Madrid Á, Vazquez C, González LE, Blanco F.

Pediatr Res. 2016 Mar;79(3):496-501. doi: 10.1038/pr.2015.243. Epub 2015 Nov 16. Erratum in: Pediatr Res. 2018 Jan;83(1-1):190.

PMID:
26571219
37.

CDKAL1 gene variants affect the anti-TNF response among Psoriasis patients.

Coto-Segura P, Batalla A, González-Fernández D, Gómez J, Santos-Juanes J, Queiro R, Alonso B, Iglesias S, Coto E.

Int Immunopharmacol. 2015 Dec;29(2):947-949. doi: 10.1016/j.intimp.2015.11.008. Epub 2015 Nov 10.

PMID:
26563541
38.

MAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium.

Pastor P, Moreno F, Clarimón J, Ruiz A, Combarros O, Calero M, López de Munain A, Bullido MJ, de Pancorbo MM, Carro E, Antonell A, Coto E, Ortega-Cubero S, Hernandez I, Tárraga L, Boada M, Lleó A, Dols-Icardo O, Kulisevsky J, Vázquez-Higuera JL, Infante J, Rábano A, Fernández-Blázquez MÁ, Valentí M, Indakoetxea B, Barandiarán M, Gorostidi A, Frank-García A, Sastre I, Lorenzo E, Pastor MA, Elcoroaristizabal X, Lennarz M, Maier W, Rámirez A, Serrano-Ríos M, Lee SE, Sánchez-Juan P; Dementia Genetic Spanish Consortium (DEGESCO).

J Alzheimers Dis. 2016;49(2):343-52. doi: 10.3233/JAD-150555.

39.

Influence of Fcγ Receptor Polymorphisms on Response to Anti-Tumor Necrosis Factor Treatment in Psoriasis.

Batalla A, Coto E, Coto-Segura P.

JAMA Dermatol. 2015 Dec 1;151(12):1376-1378. doi: 10.1001/jamadermatol.2015.2818. No abstract available.

PMID:
26398016
40.

Association between single nucleotide polymorphisms IL17RA rs4819554 and IL17E rs79877597 and Psoriasis in a Spanish cohort.

Batalla A, Coto E, González-Lara L, González-Fernández D, Gómez J, Aranguren TF, Queiro R, Santos-Juanes J, López-Larrea C, Coto-Segura P.

J Dermatol Sci. 2015 Nov;80(2):111-5. doi: 10.1016/j.jdermsci.2015.06.011. Epub 2015 Jun 27.

PMID:
26347322
41.

A 3'-UTR Polymorphism in Soluble Epoxide Hydrolase Gene Is Associated with Acute Rejection in Renal Transplant Recipients.

Gervasini G, García-Cerrada M, Coto E, Vergara E, García-Pino G, Alvarado R, Fernández-Cavada MJ, Suárez-Álvarez B, Barroso S, Doblaré E, Díaz-Corte C, López-Larrea C, Cubero JJ.

PLoS One. 2015 Jul 31;10(7):e0133563. doi: 10.1371/journal.pone.0133563. eCollection 2015.

42.

Cardiovascular risk factors influence response to biological therapies in psoriasis.

Batalla A, González-Fernández D, González-Lara L, Abalde T, Salgado-Boquete L, Queiro-Silva R, Coto E, Coto-Segura P.

J Am Acad Dermatol. 2015 Aug;73(2):327-9. doi: 10.1016/j.jaad.2015.04.041. No abstract available.

PMID:
26183981
43.

Estimated glomerular filtration rate (eGFR), 25(OH) D3, chronic kidney disease (CKD), the MYH9 (myosin heavy chain 9) gene in old and very elderly people.

Otero Gonzalez A, Prol MP, Caride MJ, Nores JS, Novoa E, Melon CP, Macia P, Alves MT, Cid M, Osorio E, Coto E, Macias Nuñez JF.

Int Urol Nephrol. 2015 Aug;47(8):1403-8. doi: 10.1007/s11255-015-1041-x. Epub 2015 Jul 8.

PMID:
26152646
44.

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.

Dols-Icardo O, Nebot I, Gorostidi A, Ortega-Cubero S, Hernández I, Rojas-García R, García-Redondo A, Povedano M, Lladó A, Álvarez V, Sánchez-Juan P, Pardo J, Jericó I, Vázquez-Costa J, Sevilla T, Cardona F, Indakoechea B, Moreno F, Fernández-Torrón R, Muñoz-Llahuna L, Moreno-Grau S, Rosende-Roca M, Vela Á, Muñoz-Blanco JL, Combarros O, Coto E, Alcolea D, Fortea J, Lleó A, Sánchez-Valle R, Esteban-Pérez J, Ruiz A, Pastor P, López De Munain A, Pérez-Tur J, Clarimón J; Dementia Genetics Spanish Consortium (DEGESCO).

Brain. 2015 Dec;138(Pt 12):e400. doi: 10.1093/brain/awv175. Epub 2015 Jul 7. No abstract available.

45.

Next generation sequencing search for uromodulin gene variants related with impaired renal function.

Gómez J, Díaz-Corte C, Tranche S, Alvarez F, Iglesias S, Alonso B, Coto E.

Mol Biol Rep. 2015 Sep;42(9):1353-8. doi: 10.1007/s11033-015-3883-9. Epub 2015 Jun 4.

PMID:
26040415
46.

A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients.

Fernández A, Gómez J, Alonso B, Iglesias S, Coto E.

J Mol Neurosci. 2015 Jul;56(3):613-6. doi: 10.1007/s12031-015-0560-3. Epub 2015 May 1.

PMID:
25929831
47.

A Semiconductor Chip-Based Next Generation Sequencing Procedure for the Main Pulmonary Hypertension Genes.

Gómez J, Reguero JR, Alvarez C, Junquera MR, Arango A, Morís C, Coto E.

Lung. 2015 Aug;193(4):571-4. doi: 10.1007/s00408-015-9736-4. Epub 2015 Apr 28.

PMID:
25917481
48.

Hypertrophic cardiomyopathy and left ventricular non-compaction: Different manifestations of the same cardiomyopathy spectrum?

Lorca R, Martín M, Gómez J, Santamarta E, Morís C, Reguero JJ, Coto E.

Int J Cardiol. 2015;190:26-8. doi: 10.1016/j.ijcard.2015.04.138. Epub 2015 Apr 17. No abstract available.

PMID:
25912113
49.

The Cw6 and late-cornified envelope genotype plays a significant role in anti-tumor necrosis factor response among psoriatic patients.

Batalla A, Coto E, González-Fernández D, González-Lara L, Gómez J, Santos-Juanes J, Queiro R, Coto-Segura P.

Pharmacogenet Genomics. 2015 Jun;25(6):313-6. doi: 10.1097/FPC.0000000000000136.

PMID:
25794162
50.

ABCB1 (MDR-1) pharmacogenetics of tacrolimus in renal transplanted patients: a Next Generation Sequencing approach.

Tavira B, Gómez J, Diaz-Corte C, Suarez B, Coronel D, Arias M, López-Larrea C, Iglesias S, Alonso B, Rodrigo E, Coto E.

Clin Chem Lab Med. 2015 Sep 1;53(10):1515-9. doi: 10.1515/cclm-2014-1195.

PMID:
25781547

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