Publicaciones de 2019

Ruiz-Botero, F., Ramírez-Montaño, D., & Pachajoa, H. (2019). Sindrome de Ehlers-Danlos dfoescoliotico-FKBP14 en una paciente adolescente: primer reporte de caso colombiano. Arch. argent. pediatr, 274-278.

Candelo, E., Caicedo, G., Rosso, F., Ballesteros, A., Orrego, J., Escobar, L., ... & Pachajoa, H. (2019). First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities. The application of clinical genetics, 12, 141.

Candelo E, Cochard L, Caicedo-Herrera G, Granados AM, Gomez JF, Díaz-Ordoñez L, Ramirez-Montaño D, Pachajoa H. Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia. Intractable Rare Dis Res. 2019 Aug;8(3):187-193. doi: 10.5582/irdr.2019.01014. PMID: 31523596; PMCID: PMC6743429.

Ramirez-Montaño D and Pachajoa H, Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report. Colomb Med (Cali). 2019; 50(1): 40-45.

Prieto JC, De La Torre A, Galbán M, Llano JP, Mejía N, Zarante AM, Acosta J, et al. Consenso colombiano para el manejo de pacientes con Hipofosfatasia. Pediatr. 2019;52(1): 1-7.

Díaz-Ordoñez, L., Ramirez-Montaño, D., Candelo, E., Cruz, S., & Pachajoa, H. (2019). Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report. Iranian journal of medical sciences, 44(3), 257–261.

Nieto AJ, Trochez L, Ramírez D, Arguello P, Guzman G, Pachajoa H, Escobar Vidarte MF. Paraganglioma in pregnancy: interdisciplinary management during pregnancy. Gynecol Endocrinol. 2019 Feb 21:1-4

Gómez-Duarte, C., García, V., Botero, V., Aristizabal, A., Echeverri, G., & Pachajoa, H. (2019). Lysosomal acid lipase deficiency, a rare pathology. GACETA MEDICA DE MEXICO, 155(3), 268-274.

Candelo, E., Ramirez-Montaño, D., & Pachajoa, H. (2019). Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report. Iranian journal of medical sciences, 44(4), 347–353.

Candelo, E., Ramirez, D., & Pachajoa, H. (2019, July). Is microduplication Xp22. 31 a possible synergic factor in MECP2 defect for Rett Syndrome?. In EUROPEAN JOURNAL OF HUMAN GENETICS (Vol. 27, pp. 318-319). MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND: NATURE PUBLISHING GROUP.

Pachajoa, H., Candelo, E., Caicedo, G., Porras, G., Ramirez, D., & Diaz, L. (2019, July). Molecular Characterisationof MPS IVA patients in Andean region of Colombia. In EUROPEAN JOURNAL OF HUMAN GENETICS (Vol. 27, pp. 188-188). MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND: NATURE PUBLISHING GROUP.

Mejia de Beldjenna, L., Diaz, L., Vanegas, S., Perafan, L., & Pachajoa, H. (2019, September). Variable expressivity in three generation from a Colombian family with multiple endocrine neoplasia with mutation c. 482G> A (p. Gly161Asp) in the gene MEN1 not described in Colombia. In HORMONE RESEARCH IN PAEDIATRICS (Vol. 91, pp. 582-583). ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND: KARGER.

Candelo, E., Sanz, A. M., Ramirez, D., Diaz, L., Granados, A. M., Rosso, F., & Pachajoa, H. (2019). A possible association between Zika virus infection and CDK5RAP2 mutations. IBRO Reports, 6, S470-S471.

Nevado, J., Palomares, M., Garcia-Minaur, S., Mori, M., Santos, F., Vallespin, E., Pachajoa H.,... & Rosell, J. (2019, October). Clinical and laboratory management of the largest cohort of Spanish individuals with Phelan McDermid syndrome. In EUROPEAN JOURNAL OF HUMAN GENETICS (Vol. 27, pp. 1404-1405). MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND: NATURE PUBLISHING GROUP.

Duran CE, Ramírez A, Posada JG, Schweineberg J, Mesa L, Pachajoa H, Estacio M, Manzi E, Aros V, Díaz L, Garcia VH. Corrigendum to "Prevalence of APOL1 Risk Variants in Afro-Descendant Patients with Chronic Kidney Disease in a Latin American Country". Int J Nephrol. 2020 Nov 17;2020:8706297. doi: 10.1155/2020/8706297. Erratum for: Int J Nephrol. 2019 Dec 18;2019:7076326. PMID: 33294227; PMCID: PMC7700043.

Nieto-Calvache, A. J., López-Girón, M. C., López-Tenorio, J., Quintero-Mejía, J. C., Zambrano-Regalado, M. A., Pachajoa-Londoño, H., & Escobar-Vidarte, M. F. (2020). Cesarean Scar Pregnancy with Iniencephaly and Progression to Placenta Accreta Due to Early Management Rejection. Maternal-Fetal Medicine, 2(1), 56-58.