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Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.
Pachajoa H, Acosta MA, Alméciga-Díaz CJ, Ariza Y, Diaz-Ordoñez L, Caicedo-Herrera G, Cuartas D, Nastasi-Catanese JA, Ramírez-Montaño D, Silva YK, Moreno L, Satizabal J, Garcia N, Montoya J, Prada C, Porras G, Velasco H, Candelo E. Pachajoa H, et al. Among authors: nastasi catanese ja. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):388-395. doi: 10.1002/ajmg.c.31936. Epub 2021 Sep 20. Am J Med Genet C Semin Med Genet. 2021. PMID: 34542925
New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report.
Forero-Delgadillo JM, Ochoa V, Duque N, Restrepo JM, Londoño H, Nastasi-Catanese JA, Pachajoa H. Forero-Delgadillo JM, et al. Among authors: nastasi catanese ja. Clin Med Insights Pediatr. 2021 Mar 5;15:1179556521992354. doi: 10.1177/1179556521992354. eCollection 2021. Clin Med Insights Pediatr. 2021. PMID: 33746522 Free PMC article.
Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers-Danlos syndrome.
Valencia-Cifuentes V, Sinisterra-Díaz SE, Quintana-Peña V, Folleco E, Nastasi-Catanese JA, Pachajoa H, Fernández-Cubillos JP. Valencia-Cifuentes V, et al. Among authors: nastasi catanese ja. Front Med (Lausanne). 2024 Mar 26;11:1304168. doi: 10.3389/fmed.2024.1304168. eCollection 2024. Front Med (Lausanne). 2024. PMID: 38596786 Free PMC article.
Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability.
Rangel-Sosa MM, Figuera-Villanueva LE, González-Ramos IA, Pérez-Páramo YX, Martínez-Jacobo LA, Arnaud-López L, Nastasi-Catanese JA, Rivas-Estilla AM, Galán-Huerta KA, Rojas-Martínez A, Ortiz-López R, Córdova-Fletes C. Rangel-Sosa MM, et al. Among authors: nastasi catanese ja. Clin Genet. 2018 Jun;93(6):1229-1233. doi: 10.1111/cge.13235. Epub 2018 Mar 9. Clin Genet. 2018. PMID: 29437235
14 results