Pachajoa H - Search Results

1

Daich Varela M, Moya R, Schlottmann PG, Hufnagel RB, Arberas C, Fernández FM, Inga ME, Lores J, Pachajoa H, Prada CE, Sallum JMF. Daich Varela M, et al. Among authors: pachajoa h. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):753-761. doi: 10.1002/ajmg.c.31832. Epub 2020 Aug 28. Am J Med Genet C Semin Med Genet. 2020. PMID: 32856789 Free PMC article.

2

A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis.

Pinilla-Monsalve GD, Lores J, Pachajoa H, López-Ponce de León JD, López A, Rodríguez-Rojas LX, Nastasi-Catanese JA. Pinilla-Monsalve GD, et al. Among authors: pachajoa h. Appl Clin Genet. 2020 Mar 26;13:63-69. doi: 10.2147/TACG.S243148. eCollection 2020. Appl Clin Genet. 2020. PMID: 32280258 Free PMC article.

3

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.

McTiernan N, Gill H, Prada CE, Pachajoa H, Lores J; CAUSES study; Arnesen T. McTiernan N, et al. Among authors: pachajoa h. Eur J Hum Genet. 2021 Feb;29(2):280-288. doi: 10.1038/s41431-020-00728-2. Epub 2020 Sep 24. Eur J Hum Genet. 2021. PMID: 32973342 Free PMC article.

4

Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.

Lores J, Prada CE, Ramírez-Montaño D, Nastasi-Catanese JA, Pachajoa H. Lores J, et al. Among authors: pachajoa h. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):1042-1051. doi: 10.1002/ajmg.c.31869. Epub 2020 Dec 10. Am J Med Genet C Semin Med Genet. 2020. PMID: 33300679

5

Genetic and congenital disorders in pre-Hispanic Moche pottery.

Pachajoa H, Heyne T, Candelo E, Purizaca-Rosillo N, Correa-Trigoso DE, Gayoso G, Rodriguez CA. Pachajoa H, et al. Am J Med Genet C Semin Med Genet. 2021 Jun;187(2):269-277. doi: 10.1002/ajmg.c.31904. Epub 2021 May 13. Am J Med Genet C Semin Med Genet. 2021. PMID: 33982859

6

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. 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

7

Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1.

Perafan-Valdes L, Giraldo-Ocampo S, Lores J, Pachajoa H. Perafan-Valdes L, et al. Among authors: pachajoa h. Pharmgenomics Pers Med. 2022 Oct 25;15:873-878. doi: 10.2147/PGPM.S380796. eCollection 2022. Pharmgenomics Pers Med. 2022. PMID: 36317063 Free PMC article.

8

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies.

Pachajoa H, Gomez-Pineda E, Giraldo-Ocampo S, Lores J. Pachajoa H, et al. Pharmgenomics Pers Med. 2022 Nov 1;15:913-918. doi: 10.2147/PGPM.S380908. eCollection 2022. Pharmgenomics Pers Med. 2022. PMID: 36345475 Free PMC article.

9

[Crouzon syndrome in pre-Hispanic populations in South America?].

Pachajoa H, Rodríguez CA. Pachajoa H, et al. Arch Soc Esp Oftalmol. 2012 May;87(5):161-2. doi: 10.1016/j.oftal.2012.01.009. Arch Soc Esp Oftalmol. 2012. PMID: 22554561 Spanish. No abstract available.

10

Sirenomelia and cyclopia in the same patient after a cluster of cyclopia and sirenomelia in Cali (South America).

Pachajoa H, Isaza C. Pachajoa H, et al. Am J Med Genet A. 2012 Jul;158A(7):1808-10. doi: 10.1002/ajmg.a.35411. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628363 No abstract available.

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