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CPLANE Complex and Ciliopathies.
Martín-Salazar JE, Valverde D. Martín-Salazar JE, et al. Among authors: valverde d. Biomolecules. 2022 Jun 17;12(6):847. doi: 10.3390/biom12060847. Biomolecules. 2022. PMID: 35740972 Free PMC article. Review.
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
Sanchez-Navarro I, R J da Silva L, Blanco-Kelly F, Zurita O, Sanchez-Bolivar N, Villaverde C, Lopez-Molina MI, Garcia-Sandoval B, Tahsin-Swafiri S, Minguez P, Riveiro-Alvarez R, Lorda I, Sanchez-Alcudia R, Perez-Carro R, Valverde D, Liu Y, Tian L, Hakonarson H, Avila-Fernandez A, Corton M, Ayuso C. Sanchez-Navarro I, et al. Among authors: valverde d. Sci Rep. 2018 Mar 27;8(1):5285. doi: 10.1038/s41598-018-23520-1. Sci Rep. 2018. PMID: 29588463 Free PMC article.
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I, Solarat C, Blanco-Kelly F, Sanchez-Navarro I, Bea-Mascato B, Martin-Salazar E, Lorda-Sanchez I, Swafiri ST, Avila-Fernandez A, Martin-Merida I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Minguez P, Corton M, Valverde D, Ayuso C. Perea-Romero I, et al. Among authors: valverde d. NPJ Genom Med. 2022 Jul 14;7(1):41. doi: 10.1038/s41525-022-00311-2. NPJ Genom Med. 2022. PMID: 35835773 Free PMC article.
ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia.
Álvarez-Satta M, Lago-Docampo M, Bea-Mascato B, Solarat C, Castro-Sánchez S, Christensen ST, Valverde D. Álvarez-Satta M, et al. Among authors: valverde d. Front Cell Dev Biol. 2021 Feb 1;9:623829. doi: 10.3389/fcell.2021.623829. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33598462 Free PMC article.
Bardet-Biedl syndrome: A rare genetic disease.
Castro-Sánchez S, Álvarez-Satta M, Valverde D. Castro-Sánchez S, et al. Among authors: valverde d. J Pediatr Genet. 2013 Jun;2(2):77-83. doi: 10.3233/PGE-13051. J Pediatr Genet. 2013. PMID: 27625843 Free PMC article. Review.
147 results