Vidal S - Search Results

1

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group. Vidal S, et al. Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3. Sci Rep. 2017. PMID: 28947817 Free PMC article.

2

Alteration of the serum microbiome composition in cirrhotic patients with ascites.

Santiago A, Pozuelo M, Poca M, Gely C, Nieto JC, Torras X, Román E, Campos D, Sarrabayrouse G, Vidal S, Alvarado-Tapias E, Guarner F, Soriano G, Manichanh C, Guarner C. Santiago A, et al. Among authors: vidal s. Sci Rep. 2016 Apr 26;6:25001. doi: 10.1038/srep25001. Sci Rep. 2016. PMID: 27112233 Free PMC article.

3

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.

Lucariello M, Vidal E, Vidal S, Saez M, Roa L, Huertas D, Pineda M, Dalfó E, Dopazo J, Jurado P, Armstrong J, Esteller M. Lucariello M, et al. Among authors: vidal s, vidal e. Hum Genet. 2016 Dec;135(12):1343-1354. doi: 10.1007/s00439-016-1721-3. Epub 2016 Aug 19. Hum Genet. 2016. PMID: 27541642 Free PMC article.

4

The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.

Vidal S, Brandi N, Pacheco P, Maynou J, Fernandez G, Xiol C, Pascual-Alonso A, Pineda M; Rett Working Group; Armstrong J. Vidal S, et al. Eur J Paediatr Neurol. 2019 Jul;23(4):609-620. doi: 10.1016/j.ejpn.2019.04.006. Epub 2019 May 2. Eur J Paediatr Neurol. 2019. PMID: 31105003

5

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.

Vidal S, Pascual-Alonso A, Rabaza-Gairí M, Gerotina E, Brandi N, Pacheco P, Xiol C, Pineda M; Rett Working Group; Armstrong J. Vidal S, et al. Mol Genet Genomic Med. 2019 Aug;7(8):e793. doi: 10.1002/mgg3.793. Epub 2019 Jun 17. Mol Genet Genomic Med. 2019. PMID: 31206249 Free PMC article.

6

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.

Vidal S, Xiol C, Pascual-Alonso A, O'Callaghan M, Pineda M, Armstrong J. Vidal S, et al. Int J Mol Sci. 2019 Aug 12;20(16):3925. doi: 10.3390/ijms20163925. Int J Mol Sci. 2019. PMID: 31409060 Free PMC article. Review.

7

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J; Rett Working Group. Xiol C, et al. Among authors: vidal s. Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w. Sci Rep. 2019. PMID: 31427717 Free PMC article.

8

Molecular characterization of Spanish patients with MECP2 duplication syndrome.

Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J. Pascual-Alonso A, et al. Among authors: vidal s. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567

9

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.

Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors. Matalonga L, et al. J Mol Diagn. 2020 Sep;22(9):1205-1215. doi: 10.1016/j.jmoldx.2020.06.008. Epub 2020 Jun 30. J Mol Diagn. 2020. PMID: 32619640 Free PMC article.

10

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group. Vidal S, et al. Sci Rep. 2021 Sep 7;11(1):18146. doi: 10.1038/s41598-021-97262-y. Sci Rep. 2021. PMID: 34493777 Free PMC article. No abstract available.

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