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Page 1
Effect of HIV infection and antiretroviral therapy initiation on genome-wide DNA methylation patterns.
Esteban-Cantos A, Rodríguez-Centeno J, Silla JC, Barruz P, Sánchez-Cabo F, Saiz-Medrano G, Nevado J, Mena-Garay B, Jiménez-González M, de Miguel R, Bernardino JI, Montejano R, Cadiñanos J, Marcelo C, Gutiérrez-García L, Martínez-Martín P, Wallet C, Raffi F, Rodés B, Arribas JR; NEAT001/ANRS143 study group. Esteban-Cantos A, et al. Among authors: silla jc. EBioMedicine. 2023 Feb;88:104434. doi: 10.1016/j.ebiom.2022.104434. Epub 2023 Jan 12. EBioMedicine. 2023. PMID: 36640455 Free PMC article.
Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.
Santos-Simarro F, Vallespin E, Del Pozo A, Ibañez K, Silla JC, Fernandez L, Nevado J, González-Pecellín H, Montaño VEF, Martin R, Alba Valdivia LI, García-Miñaúr S, Lapunzina P, Palomares-Bralo M. Santos-Simarro F, et al. Among authors: silla jc. Clin Genet. 2017 Sep;92(3):350-351. doi: 10.1111/cge.12965. Epub 2017 Mar 30. Clin Genet. 2017. PMID: 28074499 No abstract available.
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Among authors: silla jc. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares-Bralo M, Del Pozo Á, Ibañez K, Silla JC, Barroso E, Ruiz-Pérez VL, Martinez-Glez V, Lapunzina P. Gordo G, et al. Among authors: silla jc. Clin Genet. 2018 Apr;93(4):762-775. doi: 10.1111/cge.13135. Epub 2018 Feb 13. Clin Genet. 2018. PMID: 28892148 Free article.
Machine Learning Improves Cardiovascular Risk Definition for Young, Asymptomatic Individuals.
Sánchez-Cabo F, Rossello X, Fuster V, Benito F, Manzano JP, Silla JC, Fernández-Alvira JM, Oliva B, Fernández-Friera L, López-Melgar B, Mendiguren JM, Sanz J, Ordovás JM, Andrés V, Fernández-Ortiz A, Bueno H, Ibáñez B, García-Ruiz JM, Lara-Pezzi E. Sánchez-Cabo F, et al. Among authors: silla jc. J Am Coll Cardiol. 2020 Oct 6;76(14):1674-1685. doi: 10.1016/j.jacc.2020.08.017. J Am Coll Cardiol. 2020. PMID: 33004133 Free article.
Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.
Palomares-Bralo M, Vallespín E, Del Pozo Á, Ibañez K, Silla JC, Galán E, Gordo G, Martínez-Glez V, Alba-Valdivia LI, Heath KE, García-Miñaúr S, Lapunzina P, Santos-Simarro F. Palomares-Bralo M, et al. Among authors: silla jc. Genet Med. 2017 Nov;19(11):1285-1286. doi: 10.1038/gim.2017.42. Epub 2017 Apr 27. Genet Med. 2017. PMID: 28640240 Free article. No abstract available.
Next generation sequencing in the diagnosis of Stargardt's disease.
Jimenez-Rolando B, Noval S, Rosa-Perez I, Mata Diaz E, Del Pozo A, Ibañez C, Silla JC, Montaño VEF, Martin-Arenas R, Vallespin E. Jimenez-Rolando B, et al. Among authors: silla jc. Arch Soc Esp Oftalmol (Engl Ed). 2018 Mar;93(3):119-125. doi: 10.1016/j.oftal.2017.03.012. Epub 2017 May 29. Arch Soc Esp Oftalmol (Engl Ed). 2018. PMID: 28571903 English, Spanish.