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Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.
Del Pozo-Valero M, Riveiro-Alvarez R, Blanco-Kelly F, Aguirre-Lamban J, Martin-Merida I, Iancu IF, Swafiri S, Lorda-Sanchez I, Rodriguez-Pinilla E, Trujillo-Tiebas MJ, Jimenez-Rolando B, Carreño E, Mahillo-Fernandez I, Rivolta C, Corton M, Avila-Fernandez A, Garcia-Sandoval B, Ayuso C. Del Pozo-Valero M, et al. Am J Ophthalmol. 2020 Nov;219:195-204. doi: 10.1016/j.ajo.2020.06.027. Epub 2020 Jun 30. Am J Ophthalmol. 2020. PMID: 32619608 Free article.
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.
Prenatal diagnosis of 46, XX male fetus.
Trujillo-Tiebas MJ, González-González C, Lorda-Sánchez I, Querejeta ME, Ayuso C, Ramos C. Trujillo-Tiebas MJ, et al. J Assist Reprod Genet. 2006 May;23(5):253-4. doi: 10.1007/s10815-005-9020-2. Epub 2006 May 25. J Assist Reprod Genet. 2006. PMID: 16724267 Free PMC article.
Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.
Vallespin E, Riveiro-Alvarez R, Aguirre-Lamban J, Cantalapiedra D, Tapias I, Garcia-Sandoval B, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Hum Genet. 2006 Jul;119(6):681. Hum Genet. 2006. PMID: 17128490 No abstract available.
150 results