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

54 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders.
Thygesen JH, Wolfe K, McQuillin A, Viñas-Jornet M, Baena N, Brison N, D'Haenens G, Esteba-Castillo S, Gabau E, Ribas-Vidal N, Ruiz A, Vermeesch J, Weyts E, Novell R, Buggenhout GV, Strydom A, Bass N, Guitart M, Vogels A. Thygesen JH, et al. Among authors: gabau e. Br J Psychiatry. 2018 May;212(5):287-294. doi: 10.1192/bjp.2017.65. Br J Psychiatry. 2018. PMID: 29693535 Free PMC article.
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
Maortua H, Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR, Calvo MT, Guitart M, Gabau E, Botella MP, Gener B, Rubio I, López-Aríztegui MA, Tejada MI. Maortua H, et al. Among authors: gabau e. J Mol Diagn. 2013 Sep;15(5):723-9. doi: 10.1016/j.jmoldx.2013.05.002. Epub 2013 Jun 26. J Mol Diagn. 2013. PMID: 23810759 Free article.
Novel Mutations Causing C5 Deficiency in Three North-African Families.
Colobran R, Franco-Jarava C, Martín-Nalda A, Baena N, Gabau E, Padilla N, de la Cruz X, Pujol-Borrell R, Comas D, Soler-Palacín P, Hernández-González M. Colobran R, et al. Among authors: gabau e. J Clin Immunol. 2016 May;36(4):388-96. doi: 10.1007/s10875-016-0275-4. Epub 2016 Mar 30. J Clin Immunol. 2016. PMID: 27026170
Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome.
Bueno M, Esteba-Castillo S, Novell R, Giménez-Palop O, Coronas R, Gabau E, Corripio R, Baena N, Viñas-Jornet M, Guitart M, Torrents-Rodas D, Deus J, Pujol J, Rigla M, Caixàs A. Bueno M, et al. Among authors: gabau e. PLoS One. 2016 Sep 29;11(9):e0163468. doi: 10.1371/journal.pone.0163468. eCollection 2016. PLoS One. 2016. PMID: 27685845 Free PMC article.
Paternal transmission of a FMR1 full mutation allele.
Alvarez-Mora MI, Guitart M, Rodriguez-Revenga L, Madrigal I, Gabau E, Milà M. Alvarez-Mora MI, et al. Among authors: gabau e. Am J Med Genet A. 2017 Oct;173(10):2795-2797. doi: 10.1002/ajmg.a.38384. Epub 2017 Aug 16. Am J Med Genet A. 2017. PMID: 28815939
[Phenotype variability in thirteen 16p11.2 deletion patients].
Rodà D, Gabau E, Baena N, Guitart M. Rodà D, et al. Among authors: gabau e. An Pediatr (Engl Ed). 2018 Jul;89(1):62-63. doi: 10.1016/j.anpedi.2017.08.003. Epub 2017 Oct 14. An Pediatr (Engl Ed). 2018. PMID: 29037952 Free article. Spanish. No abstract available.
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.
Aguilera C, Viñas-Jornet M, Baena N, Gabau E, Fernández C, Capdevila N, Cirkovic S, Sarajlija A, Miskovic M, Radivojevic D, Ruiz A, Guitart M. Aguilera C, et al. Among authors: gabau e. BMC Med Genet. 2017 Nov 21;18(1):137. doi: 10.1186/s12881-017-0500-x. BMC Med Genet. 2017. PMID: 29162042 Free PMC article. Review.
54 results