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

73 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model.
Mavaddat N, Ficorella L, Carver T, Lee A, Cunningham AP, Lush M, Dennis J, Tischkowitz M, Downes K, Hu D, Hahnen E, Schmutzler RK, Stockley TL, Downs GS, Zhang T, Chiarelli AM, Bojesen SE, Liu C, Chung WK, Pardo M, Feliubadaló L, Balmaña J, Simard J, Antoniou AC, Easton DF. Mavaddat N, et al. Among authors: feliubadalo l. Cancer Epidemiol Biomarkers Prev. 2023 Mar 6;32(3):422-427. doi: 10.1158/1055-9965.EPI-22-0756. Cancer Epidemiol Biomarkers Prev. 2023. PMID: 36649146 Free PMC article.
The genetics of heteromeric amino acid transporters.
Palacín M, Nunes V, Font-Llitjós M, Jiménez-Vidal M, Fort J, Gasol E, Pineda M, Feliubadaló L, Chillarón J, Zorzano A. Palacín M, et al. Among authors: feliubadalo l. Physiology (Bethesda). 2005 Apr;20:112-24. doi: 10.1152/physiol.00051.2004. Physiology (Bethesda). 2005. PMID: 15772300 Free article. Review.
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
Font MA, Feliubadaló L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL Jr, Manzoni M, Riboni M, Ballabio A, Borsani G, Reig N, Fernández E, Zorzano A, Bertran J, Palacín M; International Cystinuria Consortium. Font MA, et al. Among authors: feliubadalo l. Hum Mol Genet. 2001 Feb 15;10(4):305-16. doi: 10.1093/hmg/10.4.305. Hum Mol Genet. 2001. PMID: 11157794
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.
Moreno-Cabrera JM, Del Valle J, Castellanos E, Feliubadaló L, Pineda M, Brunet J, Serra E, Capellà G, Lázaro C, Gel B. Moreno-Cabrera JM, et al. Among authors: feliubadalo l. Eur J Hum Genet. 2020 Dec;28(12):1645-1655. doi: 10.1038/s41431-020-0675-z. Epub 2020 Jun 19. Eur J Hum Genet. 2020. PMID: 32561899 Free PMC article.
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.
Infante M, Durán M, Acedo A, Sánchez-Tapia EM, Díez-Gómez B, Barroso A, García-González M, Feliubadaló L, Lasa A, de la Hoya M, Esteban-Cardeñosa E, Díez O, Martínez-Bouzas C, Godino J, Teulé A, Osorio A, Lastra E, González-Sarmiento R, Miner C, Velasco EA. Infante M, et al. Among authors: feliubadalo l. Carcinogenesis. 2013 Nov;34(11):2505-11. doi: 10.1093/carcin/bgt272. Epub 2013 Aug 8. Carcinogenesis. 2013. PMID: 23929434 Free article.
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M; International Cystinuria Consortium. Feliubadaló L, et al. Nat Genet. 1999 Sep;23(1):52-7. doi: 10.1038/12652. Nat Genet. 1999. PMID: 10471498
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
Feliubadaló L, Arbonés ML, Mañas S, Chillarón J, Visa J, Rodés M, Rousaud F, Zorzano A, Palacín M, Nunes V. Feliubadaló L, et al. Hum Mol Genet. 2003 Sep 1;12(17):2097-108. doi: 10.1093/hmg/ddg228. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915471
73 results