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

577 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V. Rodriguez-Laguna L, et al. Among authors: ayuso c. Genet Med. 2018 Aug;20(8):882-889. doi: 10.1038/gim.2017.200. Epub 2018 Feb 15. Genet Med. 2018. PMID: 29446767 Free article.
Gene symbol: ABCA4. Disease: Stargardt disease 1.
Riveiro-Alvarez R, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, Ayuso C. Riveiro-Alvarez R, et al. Among authors: ayuso c. Hum Genet. 2006 Jul;119(6):671. Hum Genet. 2006. PMID: 17128450 No abstract available.
Gene symbol: NDP. Disease: Norrie disease.
Riveiro-Alvarez R, Trujillo MJ, Gimenez A, Cantalapiedra D, Vallespin E, Villaverde C, Ayuso C. Riveiro-Alvarez R, et al. Among authors: ayuso c. Hum Genet. 2006 Jul;119(6):675. Hum Genet. 2006. PMID: 17128466 No abstract available.
Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.
Vallespin E, Riveiro-Alvarez R, Aguirre-Lamban J, Cantalapiedra D, Tapias I, Garcia-Sandoval B, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Among authors: ayuso c. Hum Genet. 2006 Jul;119(6):681. Hum Genet. 2006. PMID: 17128490 No abstract available.
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538.
Riveiro-Alvarez R, Aguirre J, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, Ayuso C. Riveiro-Alvarez R, et al. Among authors: ayuso c. Hum Genet. 2006 Feb;118(6):778. Hum Genet. 2006. PMID: 17297693 No abstract available.
577 results