Pachajoa H - Search Results

1

Methylation Status of GLP2R, LEP and IRS2 in Small for Gestational Age Children with and without Catch-up Growth.

Angulo M, Ramirez-Montaño D, Torres-Canchala L, García X, Lemus R, Aristizabal AM, Floyd-Aristizábal D, Dávalos DM, Diaz-Ordoñez L, Pachajoa H. Angulo M, et al. Among authors: pachajoa h. J Clin Res Pediatr Endocrinol. 2021 Jun 2;13(2):136-145. doi: 10.4274/jcrpe.galenos.2020.2020.0070. Epub 2020 Sep 17. J Clin Res Pediatr Endocrinol. 2021. PMID: 32936762 Free PMC article.

2

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. Pachajoa H, et al. Appl Clin Genet. 2018 Mar 23;11:15-21. doi: 10.2147/TACG.S155022. eCollection 2018. Appl Clin Genet. 2018. PMID: 29615845 Free PMC article.

3

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. Among authors: pachajoa h. Front Genet. 2018 Mar 21;9:98. doi: 10.3389/fgene.2018.00098. eCollection 2018. Front Genet. 2018. PMID: 29619043 Free PMC article.

4

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis.

Vanegas S, Sua LF, López-Tenorio J, Ramírez-Montaño D, Pachajoa H. Vanegas S, et al. Among authors: pachajoa h. Appl Clin Genet. 2018 May 25;11:69-73. doi: 10.2147/TACG.S157235. eCollection 2018. Appl Clin Genet. 2018. PMID: 29872333 Free PMC article.

5

Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia.

Botero V, Garcia VH, Gomez-Duarte C, Aristizabal AM, Arrunategui AM, Echeverri GJ, Pachajoa H. Botero V, et al. Among authors: pachajoa h. Am J Case Rep. 2018 Jun 9;19:669-672. doi: 10.12659/AJCR.908808. Am J Case Rep. 2018. PMID: 29884776 Free PMC article.

6

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: pachajoa h. Mol Syndromol. 2018 May;9(3):154-158. doi: 10.1159/000488815. Epub 2018 Apr 28. Mol Syndromol. 2018. PMID: 29928181 Free PMC article.

7

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: pachajoa h. 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.

8

FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report.

Ruiz-Botero F, Ramírez-Montaño D, Pachajoa H. Ruiz-Botero F, et al. Among authors: pachajoa h. Arch Argent Pediatr. 2019 Jun 1;117(3):e274-e278. doi: 10.5546/aap.2019.eng.e274. Arch Argent Pediatr. 2019. PMID: 31063316 Free article. English, Spanish.

9

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.

Ramirez-Montaño D, Pachajoa H. Ramirez-Montaño D, et al. Among authors: pachajoa h. Colomb Med (Cali). 2019 Mar 30;50(1):40-45. doi: 10.25100/cm.v50i1.3555. Colomb Med (Cali). 2019. PMID: 31168168 Free PMC article.

10

Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report.

Díaz-Ordoñez L, Ramirez-Montaño D, Candelo E, Cruz S, Pachajoa H. Díaz-Ordoñez L, et al. Among authors: pachajoa h. Iran J Med Sci. 2019 May;44(3):257-261. Iran J Med Sci. 2019. PMID: 31182893 Free PMC article.

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