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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: candelo e. 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
Chromosome 17p13.3 microdeletion syndrome with unaltered PAFAH1B1 gene.
Candelo E, Caicedo G, Mejia L, Pachajoa H. Candelo E, et al. Neurologia (Engl Ed). 2019 Sep;34(7):482-484. doi: 10.1016/j.nrl.2016.10.001. Epub 2016 Dec 9. Neurologia (Engl Ed). 2019. PMID: 27939114 Free article. English, Spanish. No abstract available.
[No title available]
[No authors listed] [No authors listed] PMID: 29169806
First Case Report of Prader-Willi-Like Syndrome in Colombia.
Candelo E, Feinstein MM, Ramirez-Montaño D, Gomez JF, Pachajoa H. Candelo E, et al. Front Genet. 2018 Mar 21;9:98. doi: 10.3389/fgene.2018.00098. eCollection 2018. Front Genet. 2018. PMID: 29619043 Free PMC article.
DeSanto-Shinawi Syndrome: First Case in South America.
Vanegas S, Ramirez-Montaño D, Candelo E, Shinawi M, Pachajoa H. Vanegas S, et al. Among authors: candelo e. Mol Syndromol. 2018 May;9(3):154-158. doi: 10.1159/000488815. Epub 2018 Apr 28. Mol Syndromol. 2018. PMID: 29928181 Free PMC article.
Novel ATP7A gene mutation in a patient with Menkes disease.
Caicedo-Herrera G, Candelo E, Pinilla J, Vidal A, Cruz S, Pachajoa HM. Caicedo-Herrera G, et al. Among authors: candelo e. Appl Clin Genet. 2018 Nov 22;11:151-155. doi: 10.2147/TACG.S180087. eCollection 2018. Appl Clin Genet. 2018. PMID: 30538525 Free PMC article.
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome.
Ríos-Serna LJ, Díaz-Ordoñez L, Candelo E, Pachajoa H. Ríos-Serna LJ, et al. Among authors: candelo e. Appl Clin Genet. 2018 Nov 23;11:157-162. doi: 10.2147/TACG.S183418. eCollection 2018. Appl Clin Genet. 2018. PMID: 30538526 Free PMC article.
44 results