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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

378 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A; SYNaPS Study Group; University of Washington Center for Mendelian Genomics; Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH. Yap ZY, et al. Among authors: sandoval a. Am J Hum Genet. 2021 Dec 2;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003. Epub 2021 Nov 19. Am J Hum Genet. 2021. PMID: 34800363 Free PMC article.
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
Muñoz-Oreja M, Sandoval A, Bruland O, Perez-Rodriguez D, Fernandez-Pelayo U, de Arbina AL, Villar-Fernandez M, Hernández-Eguiazu H, Hernández I, Park Y, Goicoechea L, Pascual-Frías N, Garcia-Ruiz C, Fernandez-Checa J, Martí-Carrera I, Gil-Bea FJ, Hasan MT, Gegg ME, Bredrup C, Knappskog PM, Gereñu-Lopetegui G, Varhaug KN, Bindoff LA, Spinazzola A, Yoon WH, Holt IJ. Muñoz-Oreja M, et al. Among authors: sandoval a. Brain. 2024 May 3;147(5):1899-1913. doi: 10.1093/brain/awae018. Brain. 2024. PMID: 38242545 Free PMC article.
Alteration of Gut Microbiota Composition in the Progression of Liver Damage in Patients with Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD).
Zazueta A, Valenzuela-Pérez L, Ortiz-López N, Pinto-León A, Torres V, Guiñez D, Aliaga N, Merino P, Sandoval A, Covarrubias N, Pérez de Arce E, Cattaneo M, Urzúa A, Roblero JP, Poniachik J, Gotteland M, Magne F, Beltrán CJ. Zazueta A, et al. Among authors: sandoval a. Int J Mol Sci. 2024 Apr 16;25(8):4387. doi: 10.3390/ijms25084387. Int J Mol Sci. 2024. PMID: 38673972 Free PMC article.
Low Cortisone as a Novel Predictor of the Low-Renin Phenotype.
Tapia-Castillo A, Carvajal CA, Pérez JA, Sandoval A, Allende F, Solari S, Fardella CE. Tapia-Castillo A, et al. Among authors: sandoval a. J Endocr Soc. 2024 Mar 15;8(6):bvae051. doi: 10.1210/jendso/bvae051. eCollection 2024 Apr 6. J Endocr Soc. 2024. PMID: 38586159 Free PMC article.
Pulmonary Hypertension in Underrepresented Minorities: A Narrative Review.
Contreras J, Nussbaum J, Cangialosi P, Thapi S, Radakrishnan A, Hall J, Ramesh P, Trivieri MG, Sandoval AF. Contreras J, et al. Among authors: sandoval af. J Clin Med. 2024 Jan 4;13(1):285. doi: 10.3390/jcm13010285. J Clin Med. 2024. PMID: 38202292 Free PMC article. Review.
Molecular cloning of the gene promoter encoding the human CaVγ2/Stargazin divergent transcript (CACNG2-DT): characterization and regulation by the cAMP-PKA/CREB signaling pathway.
Muñoz-Herrera D, Calderón-Rivera A, Zarco N, Corzo-Lopez A, Leyva-Leyva M, Monjaraz E, Sandoval A, Oviedo N, González-Ramírez R, Felix R. Muñoz-Herrera D, et al. Among authors: sandoval a. Front Physiol. 2023 Nov 16;14:1286808. doi: 10.3389/fphys.2023.1286808. eCollection 2023. Front Physiol. 2023. PMID: 38033343 Free PMC article.
378 results