Pachajoa H - Search Results

1

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report.

Candelo E, Giraldo-Ocampo S, Nevado J, Lapunzina P, Pachajoa H. Candelo E, et al. Among authors: pachajoa h. BMC Pediatr. 2024 Oct 9;24(1):641. doi: 10.1186/s12887-024-04843-7. BMC Pediatr. 2024. PMID: 39385145 Free PMC article. Review.

2

[Vascular disruption birth defects are not associated to chromosomal alterations].

Pachajoa H, Ariza Y, Isaza C, Méndez F. Pachajoa H, et al. Ginecol Obstet Mex. 2015 Nov;83(11):657-61. Ginecol Obstet Mex. 2015. PMID: 27311163 Spanish.

3

[Prevalence of birth defects in Risaralda, 2010-2013].

Porras-Hurtado GL, León-Castañeda OM, Molano-Hurtado J, Quiceno SL, Pachajoa H, Montoya JJ. Porras-Hurtado GL, et al. Among authors: pachajoa h. Biomedica. 2016 Dec 1;36(4):556-563. doi: 10.7705/biomedica.v36i4.2771. Biomedica. 2016. PMID: 27992982 Free article. Spanish.

4

[Isotretinoin embryopathy with microtia-anotia and congenital heart disease: case report].

Pachajoa H, Ordoñez A. Pachajoa H, et al. Arch Argent Pediatr. 2012 May-Jun;110(3):e47-9. doi: 10.5546/aap.2012.e47. Arch Argent Pediatr. 2012. PMID: 22760759 Free article. Spanish.

5

[Double aneuploidy (trisomy X, trisomy 18) in a newborn with trisomy 18 phenotype].

Pachajoa H. Pachajoa H. Arch Argent Pediatr. 2013 Jul-Aug;111(4):e101-4. doi: 10.5546/aap.2013.e101. Arch Argent Pediatr. 2013. PMID: 23912296 Free article. Review. Spanish.

6

[Langer-Giedion syndrome with 8q23.1-q24.12 deletion diagnosed by comparative genomic hybridization].

Ruiz-Botero F, Pachajoa H. Ruiz-Botero F, et al. Among authors: pachajoa h. Arch Argent Pediatr. 2016 Aug 1;114(4):e228-32. doi: 10.5546/aap.2016.e228. Epub 2016 Aug 1. Arch Argent Pediatr. 2016. PMID: 27399022 Free article. Spanish.

7

Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.

Ruiz-Botero F, Pachajoa H. Ruiz-Botero F, et al. Among authors: pachajoa h. J Med Case Rep. 2016 Jul 27;10:204. doi: 10.1186/s13256-016-0988-2. J Med Case Rep. 2016. PMID: 27459995 Free PMC article.

8

[Deletion on the short arm of chromosome 18 syndrome diagnosed by array comparative genomic hybridization. Presentation of one case with a mild phenotype].

Pachajoa H. Pachajoa H. Arch Argent Pediatr. 2016 Dec 1;114(6):e448-e449. doi: 10.5546/aap.2016.e448. Arch Argent Pediatr. 2016. PMID: 27869431 Free article. Spanish.

9

Chromosome 17p13.3 microdeletion syndrome with unaltered PAFAH1B1 gene.

Candelo E, Caicedo G, Mejia L, Pachajoa H. Candelo E, et al. Among authors: pachajoa h. 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.

10

[Novel mutation in TSC2 gene in pediatric patient with clinical diagnosis of tuberous sclerosis].

Caicedo-Herrera G, Candelo E, Pachajoa H. Caicedo-Herrera G, et al. Among authors: pachajoa h. Arch Argent Pediatr. 2017 Oct 1;115(5):e287-e290. doi: 10.5546/aap.2017.e287. Arch Argent Pediatr. 2017. PMID: 28895704 Free article. Spanish.

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