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Effect of HIV infection and antiretroviral therapy initiation on genome-wide DNA methylation patterns.
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.
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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
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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.
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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.
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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.
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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.
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