Ortega-Recalde O - Search Results

1

Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Silgado-Guzmán DF, Angulo-Aguado M, Morel A, Niño-Orrego MJ, Ruiz-Torres DA, Contreras Bravo NC, Restrepo CM, Ortega-Recalde O, Fonseca-Mendoza DJ. Silgado-Guzmán DF, et al. Among authors: ortega recalde o. Front Pharmacol. 2022 Jun 30;13:931531. doi: 10.3389/fphar.2022.931531. eCollection 2022. Front Pharmacol. 2022. PMID: 35846994 Free PMC article.

2

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.

Ortega-Recalde O, Fonseca DJ, Patiño LC, Atuesta JJ, Rivera-Nieto C, Restrepo CM, Mateus HE, van der Knaap MS, Laissue P. Ortega-Recalde O, et al. Mitochondrion. 2013 Nov;13(6):749-54. doi: 10.1016/j.mito.2013.03.010. Epub 2013 Apr 4. Mitochondrion. 2013. PMID: 23562761

3

Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology.

Ortega-Recalde O, Vergara JI, Fonseca DJ, Ríos X, Mosquera H, Bermúdez OM, Medina CL, Vargas CI, Pallares AE, Restrepo CM, Laissue P. Ortega-Recalde O, et al. PLoS One. 2013 Jun 3;8(6):e64692. doi: 10.1371/journal.pone.0064692. Print 2014. PLoS One. 2013. PMID: 23755135 Free PMC article.

4

BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure.

Fonseca DJ, Ortega-Recalde O, Esteban-Perez C, Moreno-Ortiz H, Patiño LC, Bermúdez OM, Ortiz AM, Restrepo CM, Lucena E, Laissue P. Fonseca DJ, et al. Reprod Biomed Online. 2014 Nov;29(5):627-33. doi: 10.1016/j.rbmo.2014.07.018. Epub 2014 Aug 12. Reprod Biomed Online. 2014. PMID: 25246117

5

A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.

Ortega-Recalde O, Moreno MB, Vergara JI, Fonseca DJ, Rojas RF, Mosquera H, Medina CL, Restrepo CM, Laissue P. Ortega-Recalde O, et al. Clin Exp Dermatol. 2015 Oct;40(7):757-60. doi: 10.1111/ced.12627. Epub 2015 Mar 9. Clin Exp Dermatol. 2015. PMID: 25754682

6

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.

Ortega-Recalde O, Beltrán OI, Gálvez JM, Palma-Montero A, Restrepo CM, Mateus HE, Laissue P. Ortega-Recalde O, et al. Clin Genet. 2015 Oct;88(4):e1-3. doi: 10.1111/cge.12634. Epub 2015 Jul 27. Clin Genet. 2015. PMID: 26138117

7

Association between Paraoxonase-1 p.Q192R Polymorphism and Coronary Artery Disease susceptibility in the Colombian Population.

Corredor-Orlandelli D, Sambracos-Parrado S, Mantilla-García S, Tovar-Tirado J, Vega-Ramírez V, Mendoza-Ayús SD, Peña LC, Leal MF, Rodríguez-Carrillo J, León-Torres J, Pardo-Oviedo JM, Parra Abaunza K, Contreras Bravo NC, Ortega-Recalde O, Fonseca Mendoza DJ. Corredor-Orlandelli D, et al. Vasc Health Risk Manag. 2021 Nov 3;17:689-699. doi: 10.2147/VHRM.S330766. eCollection 2021. Vasc Health Risk Manag. 2021. PMID: 34764653 Free PMC article.

8

Association Between the LZTFL1 rs11385942 Polymorphism and COVID-19 Severity in Colombian Population.

Angulo-Aguado M, Corredor-Orlandelli D, Carrillo-Martínez JC, Gonzalez-Cornejo M, Pineda-Mateus E, Rojas C, Triana-Fonseca P, Contreras Bravo NC, Morel A, Parra Abaunza K, Restrepo CM, Fonseca-Mendoza DJ, Ortega-Recalde O. Angulo-Aguado M, et al. Front Med (Lausanne). 2022 Jun 20;9:910098. doi: 10.3389/fmed.2022.910098. eCollection 2022. Front Med (Lausanne). 2022. PMID: 35795626 Free PMC article.

9

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Patiño LC, Battu R, Ortega-Recalde O, Nallathambi J, Anandula VR, Renukaradhya U, Laissue P. Patiño LC, et al. PLoS One. 2014 Oct 15;9(10):e109576. doi: 10.1371/journal.pone.0109576. eCollection 2014. PLoS One. 2014. PMID: 25333361 Free PMC article.

10

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations.

Fonseca DJ, Patiño LC, Suárez YC, de Jesús Rodríguez A, Mateus HE, Jiménez KM, Ortega-Recalde O, Díaz-Yamal I, Laissue P. Fonseca DJ, et al. Fertil Steril. 2015 Jul;104(1):154-62.e2. doi: 10.1016/j.fertnstert.2015.04.016. Epub 2015 May 16. Fertil Steril. 2015. PMID: 25989972 Free article.

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