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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 4
2011 3
2012 7
2013 8
2014 7
2015 3
2016 3
2018 1
2020 2
2021 3
2022 4
2023 5
2024 5

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43 results

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Page 1
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. Stefanski A, et al. Among authors: abuli a. Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292. Brain. 2023. PMID: 37647852 Free PMC article.
Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.
Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, Borregán M, Cueto-González A, Vendrell T, López-Grondona F, Brun-Gasca C, Brignani E, Martínez-Ribot L, Garci-Espejo R, Cruz J, García-Arumí E, Tizzano EF. Rovira-Moreno E, et al. Among authors: abuli a. J Genet Couns. 2021 Jun;30(3):693-700. doi: 10.1002/jgc4.1354. Epub 2020 Nov 3. J Genet Couns. 2021. PMID: 33142000
Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD.
Vendrell X, Abulí A, Serra C, Guillén JJ, Rueda J, García-Planells J, Santos-Simarro F, Quiroga R, Abellán F, Oancea-Ionescu R, Guillén-Navarro E. Vendrell X, et al. Among authors: abuli a. Eur J Hum Genet. 2024 Dec 2. doi: 10.1038/s41431-024-01751-3. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39623216 Review.
New genes emerging for colorectal cancer predisposition.
Esteban-Jurado C, Garre P, Vila M, Lozano JJ, Pristoupilova A, Beltrán S, Abulí A, Muñoz J, Balaguer F, Ocaña T, Castells A, Piqué JM, Carracedo A, Ruiz-Ponte C, Bessa X, Andreu M, Bujanda L, Caldés T, Castellví-Bel S. Esteban-Jurado C, et al. Among authors: abuli a. World J Gastroenterol. 2014 Feb 28;20(8):1961-71. doi: 10.3748/wjg.v20.i8.1961. World J Gastroenterol. 2014. PMID: 24587672 Free PMC article. Review.
Multiple sporadic colorectal cancers display a unique methylation phenotype.
Gonzalo V, Lozano JJ, Alonso-Espinaco V, Moreira L, Muñoz J, Pellisé M, Castellví-Bel S, Bessa X, Andreu M, Xicola RM, Llor X, Ruiz-Ponte C, Carracedo A, Jover R, Castells A, Balaguer F; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Gonzalo V, et al. PLoS One. 2014 Mar 18;9(3):e91033. doi: 10.1371/journal.pone.0091033. eCollection 2014. PLoS One. 2014. PMID: 24643221 Free PMC article.
Current Status of Genetic Counselling for Rare Diseases in Spain.
Álvaro-Sánchez S, Abreu-Rodríguez I, Abulí A, Serra-Juhe C, Garrido-Navas MDC. Álvaro-Sánchez S, et al. Among authors: abuli a. Diagnostics (Basel). 2021 Dec 9;11(12):2320. doi: 10.3390/diagnostics11122320. Diagnostics (Basel). 2021. PMID: 34943558 Free PMC article. Review.
43 results