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Items: 1 to 20 of 314

1.

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
2.

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
3.

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 Mar 18. pii: S0211-6995(17)30044-9. doi: 10.1016/j.nefro.2017.01.007. [Epub ahead of print] English, Spanish.

4.

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
5.

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
6.

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. 2016 Sep 27. doi: 10.1038/tpj.2016.70. [Epub ahead of print]

PMID:
27670766
7.

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
8.

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.

9.

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
10.

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
11.

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
12.

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
13.

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 JJ.

Int J Cardiol. 2016 Feb 15;205:161-2. doi: 10.1016/j.ijcard.2015.12.025. Epub 2015 Dec 14. No abstract available.

PMID:
26736093
14.

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
15.

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
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, Blanco F.

Pediatr Res. 2016 Mar;79(3):496-501. doi: 10.1038/pr.2015.243. Epub 2015 Nov 16.

PMID:
26571219
17.

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):947-9. doi: 10.1016/j.intimp.2015.11.008. Epub 2015 Nov 10.

PMID:
26563541
18.

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.

PMID:
26444794
19.

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
20.

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

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