Álvarez-Satta M - Search Results

1

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

Pousada G, Lupo V, Cástro-Sánchez S, Álvarez-Satta M, Sánchez-Monteagudo A, Baloira A, Espinós C, Valverde D. Pousada G, et al. Sci Rep. 2017 May 15;7(1):1923. doi: 10.1038/s41598-017-02074-8. Sci Rep. 2017. PMID: 28507310 Free PMC article.

2

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.

Castro-Sánchez S, Álvarez-Satta M, Cortón M, Guillén E, Ayuso C, Valverde D. Castro-Sánchez S, et al. J Med Genet. 2015 Aug;52(8):503-13. doi: 10.1136/jmedgenet-2015-103099. Epub 2015 Jun 16. J Med Genet. 2015. PMID: 26082521

3

Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.

Álvarez-Satta M, Castro-Sánchez S, Pousada G, Valverde D. Álvarez-Satta M, et al. J Cell Mol Med. 2017 Oct;21(10):2268-2275. doi: 10.1111/jcmm.13147. Epub 2017 May 13. J Cell Mol Med. 2017. PMID: 28502102 Free PMC article.

4

Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model.

Castro-Sánchez S, Suarez-Bregua P, Novas R, Álvarez-Satta M, Badano JL, Rotllant J, Valverde D. Castro-Sánchez S, et al. Among authors: alvarez satta m. Sci Rep. 2019 Sep 10;9(1):12936. doi: 10.1038/s41598-019-49217-7. Sci Rep. 2019. PMID: 31506453 Free PMC article.

5

Author Correction: Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model.

Castro-Sánchez S, Suarez-Bregua P, Novas R, Álvarez-Satta M, Badano JL, Rotllant J, Valverde D. Castro-Sánchez S, et al. Among authors: alvarez satta m. Sci Rep. 2020 Feb 13;10(1):2876. doi: 10.1038/s41598-020-60006-5. Sci Rep. 2020. PMID: 32051508 Free PMC article.

6

[Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain].

Castro-Sánchez S, Álvarez-Satta M, Pereiro I, Piñeiro-Gallego MT, Valverde D. Castro-Sánchez S, et al. Med Clin (Barc). 2015 Aug 21;145(4):147-52. doi: 10.1016/j.medcli.2014.05.037. Epub 2014 Jul 30. Med Clin (Barc). 2015. PMID: 25087209 Spanish.

7

Bardet-Biedl syndrome: A rare genetic disease.

Castro-Sánchez S, Álvarez-Satta M, Valverde D. Castro-Sánchez S, et al. J Pediatr Genet. 2013 Jun;2(2):77-83. doi: 10.3233/PGE-13051. J Pediatr Genet. 2013. PMID: 27625843 Free PMC article. Review.

8

Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).

Álvarez-Satta M, Castro-Sánchez S, Valverde D. Álvarez-Satta M, et al. Front Mol Biosci. 2017 Jul 31;4:55. doi: 10.3389/fmolb.2017.00055. eCollection 2017. Front Mol Biosci. 2017. PMID: 28824921 Free PMC article. Review.

9

Erratum: Bardet-Biedl syndrome: A rare genetic disease.

Castro-Sánchez S, Álvarez-Satta M, Valverde D. Castro-Sánchez S, et al. J Pediatr Genet. 2013 Sep;2(3):171. doi: 10.3233/PGE-13057. J Pediatr Genet. 2013. PMID: 27625855 Free PMC article. No abstract available.

10

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.

Castro-Sánchez S, Álvarez-Satta M, Tohamy MA, Beltran S, Derdak S, Valverde D. Castro-Sánchez S, et al. PLoS One. 2017 Aug 11;12(8):e0183081. doi: 10.1371/journal.pone.0183081. eCollection 2017. PLoS One. 2017. PMID: 28800606 Free PMC article.

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