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Papers published by Dr Harry Pachajoa:
Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations
Ciro Acosta S, Díaz-Ordóñez L, Gutierrez-Medina JD, Silva-Cuero YK, Arango-Vélez LG, García-Trujillo AO, Pachajoa H
The Application of Clinical Genetics 2024, 17:23-32
Published Date: 20 February 2024
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas
Rodriguez-Rojas LX, Candelo E, Pachajoa H, Garcia-Robledo JE, Nastasi-Catanese JA, Olave-Rodriguez JA, Zambrano AR
The Application of Clinical Genetics 2023, 16:53-62
Published Date: 18 April 2023
A Patient with Bone Fragility, Multiple Fractures, Osteosarcoma, and the Variant c.143A>G in the IFITM5 Gene: A Case Report
Pachajoa H, Giraldo-Ocampo S
Orthopedic Research and Reviews 2022, 14:453-458
Published Date: 28 November 2022
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
Pharmacogenomics and Personalized Medicine 2022, 15:913-918
Published Date: 1 November 2022
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
Pharmacogenomics and Personalized Medicine 2022, 15:873-878
Published Date: 25 October 2022
A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity
Giraldo-Ocampo S, Pacheco-Orozco RA, Pachajoa H
The Application of Clinical Genetics 2022, 15:63-68
Published Date: 6 July 2022
A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report
Aristizábal E, Diaz-Ordóñez L, Candelo E, Pachajoa H
The Application of Clinical Genetics 2021, 14:409-416
Published Date: 5 October 2021
The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report
Candelo E, Estrada-Mesa MA, Jaramillo A, Martinez-Cajas CH, Osorio JC, Pachajoa H
The Application of Clinical Genetics 2021, 14:267-277
Published Date: 1 June 2021
Evaluation of CYP2C19 Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with Esomeprazole
Díaz-Ordóñez L, Ramírez-Montaño D, Candelo E, González-Restrepo C, Silva-Peña S, Rojas CA, Sepulveda Copete M, Echavarria HR, Pachajoa H
Pharmacogenomics and Personalized Medicine 2021, 14:509-520
Published Date: 29 April 2021
Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization
Pachajoa H, Claros-Hulbert A, García-Quintero X, Perafan L, Ramirez A, Zea-Vera AF
The Application of Clinical Genetics 2020, 13:159-164
Published Date: 4 September 2020
Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association
Pachajoa H, Perafan L, Ramos I, Escobar ÁJ
International Journal of Women's Health 2020, 12:675-679
Published Date: 25 August 2020
Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report
Torres-Canchala L, Castaño D, Silva N, Gómez AM, Victoria A, Pachajoa H
The Application of Clinical Genetics 2020, 13:147-150
Published Date: 11 August 2020
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
The Application of Clinical Genetics 2020, 13:63-69
Published Date: 26 March 2020
First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities
Candelo E, Caicedo G, Rosso F, Ballesteros A, Orrego J, Escobar L, Lapunzina P, Nevado J, Pachajoa H
The Application of Clinical Genetics 2019, 12:141-150
Published Date: 30 July 2019
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome
Ríos-Serna LJ, Díaz-Ordoñez L, Candelo E, Pachajoa H
The Application of Clinical Genetics 2018, 11:157-162
Published Date: 23 November 2018
Novel ATP7A gene mutation in a patient with Menkes disease
Caicedo-Herrera G, Candelo E, Pinilla J, Vidal A, Cruz S, Pachajoa HM
The Application of Clinical Genetics 2018, 11:151-155
Published Date: 22 November 2018
Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum]
Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D
The Application of Clinical Genetics 2018, 11:75-76
Published Date: 31 May 2018
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis
Vanegas S, Sua LF, López-Tenorio J, Ramírez-Montaño D, Pachajoa H
The Application of Clinical Genetics 2018, 11:69-73
Published Date: 25 May 2018
Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA
Tapiero-Rodriguez SM, Acosta Guio JC, Porras-Hurtado GL, García N, Solano M, Pachajoa H, Velasco HM
The Application of Clinical Genetics 2018, 11:45-57
Published Date: 24 April 2018
Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype
Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D
The Application of Clinical Genetics 2018, 11:15-21
Published Date: 23 March 2018