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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w.
Sci Rep. 2019.
PMID: 31427717
Free PMC article.
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. Among authors: gerotina e.
Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3.
Sci Rep. 2017.
PMID: 28947817
Free PMC article.
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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. Among authors: gerotina e.
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.
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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. Among authors: gerotina e.
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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[FOXG1, a new gene responsible for the congenital form of Rett syndrome].
Roche-Martinez A, Gerotina E, Armstrong-Moron J, Sans-Capdevila O, Pineda M.
Roche-Martinez A, et al. Among authors: gerotina e.
Rev Neurol. 2011 May 16;52(10):597-602.
Rev Neurol. 2011.
PMID: 21488007
Free article.
Spanish.
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