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

150 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I, Solarat C, Blanco-Kelly F, Sanchez-Navarro I, Bea-Mascato B, Martin-Salazar E, Lorda-Sanchez I, Swafiri ST, Avila-Fernandez A, Martin-Merida I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Minguez P, Corton M, Valverde D, Ayuso C. Perea-Romero I, et al. Among authors: trujillo tiebas mj. NPJ Genom Med. 2022 Jul 14;7(1):41. doi: 10.1038/s41525-022-00311-2. NPJ Genom Med. 2022. PMID: 35835773 Free PMC article.
Gene symbol: CFTR. Disease: Cystic fibrosis.
Trujillo-Tiebas MJ, Gallego J, García M, Lorda-Sanchez I, Ramos C, Ayuso C. Trujillo-Tiebas MJ, et al. Hum Genet. 2004 Mar;114(4):403. Hum Genet. 2004. PMID: 15046061 No abstract available.
Prenatal diagnosis of 46, XX male fetus.
Trujillo-Tiebas MJ, González-González C, Lorda-Sánchez I, Querejeta ME, Ayuso C, Ramos C. Trujillo-Tiebas MJ, et al. J Assist Reprod Genet. 2006 May;23(5):253-4. doi: 10.1007/s10815-005-9020-2. Epub 2006 May 25. J Assist Reprod Genet. 2006. PMID: 16724267 Free PMC article.
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. Hum Genet. 2006 Jul;119(6):681. Hum Genet. 2006. PMID: 17128490 No abstract available.
Gene symbol: CRB1.
Vallespin E, Riveiro-Alvarez R, Cantalapiedra D, Aguirre-Lambam J, Avila-Fernandez A, Lopez-Martinez MA, Gallego-Merlo J, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Hum Genet. 2007 Apr;121(2):287-8. Hum Genet. 2007. PMID: 17598198 No abstract available.
150 results