Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

7 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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
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.
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.
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.
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.
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.
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.