Aguilera C - Search Results

1

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.

Aguilera C, Gabau E, Ramirez-Mallafré A, Brun-Gasca C, Dominguez-Carral J, Delgadillo V, Laurie S, Derdak S, Padilla N, de la Cruz X, Capdevila N, Spataro N, Baena N, Guitart M, Ruiz A. Aguilera C, et al. PLoS One. 2021 Oct 15;16(10):e0258766. doi: 10.1371/journal.pone.0258766. eCollection 2021. PLoS One. 2021. PMID: 34653234 Free PMC article.

2

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. 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.

3

Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.

Aguilera C, Gabau E, Laurie S, Baena N, Derdak S, Capdevila N, Ramirez A, Delgadillo V, García-Catalan MJ, Brun C, Guitart M, Ruiz A. Aguilera C, et al. Mol Genet Genomic Med. 2019 Jan;7(1):e00511. doi: 10.1002/mgg3.511. Epub 2018 Dec 11. Mol Genet Genomic Med. 2019. PMID: 30548424 Free PMC article.

4

The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.

Aguilera C, Hümmer S, Masanas M, Gabau E, Guitart M, Jeyaprakash AA, Segura MF, Santamaria A, Ruiz A. Aguilera C, et al. Front Neurosci. 2021 May 26;15:618098. doi: 10.3389/fnins.2021.618098. eCollection 2021. Front Neurosci. 2021. PMID: 34121983 Free PMC article.

5

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Baena N, Monk D, Aguilera C, Fraga MF, Fernández AF, Gabau E, Corripio R, Capdevila N, Trujillo JP, Ruiz A, Guitart M. Baena N, et al. Among authors: aguilera c. Clin Epigenetics. 2024 May 7;16(1):62. doi: 10.1186/s13148-024-01652-8. Clin Epigenetics. 2024. PMID: 38715103 Free PMC article.

6

New genetic drivers in hemorrhagic hereditary telangiectasia.

Cerdà P, Castillo SD, Aguilera C, Iriarte A, Rocamora JL, Larrinaga AM, Viñals F, Graupera M, Riera-Mestre A. Cerdà P, et al. Among authors: aguilera c. Eur J Intern Med. 2024 Jan;119:99-108. doi: 10.1016/j.ejim.2023.08.024. Epub 2023 Sep 9. Eur J Intern Med. 2024. PMID: 37689549 Free article.

7

Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.

Esteve-Garcia A, Cobos E, Sau C, Padró-Miquel A, Català-Mora J, Barberán-Martínez P, Millán JM, García-García G, Aguilera C. Esteve-Garcia A, et al. Among authors: aguilera c. Front Genet. 2024 Feb 21;15:1352063. doi: 10.3389/fgene.2024.1352063. eCollection 2024. Front Genet. 2024. PMID: 38450199 Free PMC article.

8

Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.

Aguilera C, Padró-Miquel A, Esteve-Garcia A, Cerdà P, Torres-Iglesias R, Llecha N, Riera-Mestre A. Aguilera C, et al. Genes (Basel). 2023 Mar 22;14(3):772. doi: 10.3390/genes14030772. Genes (Basel). 2023. PMID: 36981042 Free PMC article.

9

Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients.

Subirà O, Català-Mora J, Del Prado C, Díaz-Cascajosa J, Barraso Rodrigo M, Cobos E, Aguilera C, Esteve-Garcia A, García-Arumí J, Caminal JM. Subirà O, et al. Among authors: aguilera c. Graefes Arch Clin Exp Ophthalmol. 2024 Oct;262(10):3375-3384. doi: 10.1007/s00417-024-06545-3. Epub 2024 Jun 13. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 38871877

10

Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

Aguilera C, Esteve-Garcia A, Casasnovas C, Vélez-Santamaria V, Rausell L, Gargallo P, Garcia-Planells J, Alía P, Llecha N, Padró-Miquel A. Aguilera C, et al. BMC Med Genomics. 2023 Dec 1;16(1):312. doi: 10.1186/s12920-023-01743-0. BMC Med Genomics. 2023. PMID: 38041144 Free PMC article.

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