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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: lorda sanchez i. 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.
Does Bardet-Biedl syndrome have a characteristic face?
Lorda-Sanchez I, Ayuso C, Sanz R, Ibañez A. Lorda-Sanchez I, et al. J Med Genet. 2001 May;38(5):E14. doi: 10.1136/jmg.38.5.e14. J Med Genet. 2001. PMID: 11333870 Free PMC article. No abstract available.
Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism.
Lorda-Sanchez I, Trujillo MJ, Gomez-Garre P, de Alba MR, Gonzalez-Gonzalez C, García-Hoyos M, Ayuso C, Ramos C. Lorda-Sanchez I, et al. Am J Med Genet A. 2003 Aug 15;121A(1):20-4. doi: 10.1002/ajmg.a.10197. Am J Med Genet A. 2003. PMID: 12900896
Gene symbol: CFTR. Disease: Cystic fibrosis.
Trujillo-Tiebas MJ, Gallego J, García M, Lorda-Sanchez I, Ramos C, Ayuso C. Trujillo-Tiebas MJ, et al. Hum Genet. 2004 Mar;114(4):403. Hum Genet. 2004. PMID: 15046061 No abstract available.
86 results