Calderón JF - Search Results

1

Rare diseases in Chile: challenges and recommendations in universal health coverage context.

Encina G, Castillo-Laborde C, Lecaros JA, Dubois-Camacho K, Calderón JF, Aguilera X, Klein AD, Repetto GM. Encina G, et al. Among authors: calderon jf. Orphanet J Rare Dis. 2019 Dec 11;14(1):289. doi: 10.1186/s13023-019-1261-8. Orphanet J Rare Dis. 2019. PMID: 31931841 Free PMC article.

2

Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients.

Repetto GM, Guzmán ML, Puga A, Calderón JF, Astete CP, Aracena M, Arriaza M, Aravena T, Sanz P. Repetto GM, et al. Among authors: calderon jf. Clin Genet. 2009 Nov;76(5):465-70. doi: 10.1111/j.1399-0004.2009.01234.x. Epub 2009 Sep 8. Clin Genet. 2009. PMID: 19737282

3

VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study.

Calderón JF, Puga AR, Guzmán ML, Astete CP, Arriaza M, Aracena M, Aravena T, Sanz P, Repetto GM. Calderón JF, et al. Biol Res. 2009;42(4):461-8. Epub 2010 Jan 29. Biol Res. 2009. PMID: 20140301 Free article.

4

Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency.

Ysunza PA, Repetto GM, Pamplona MC, Calderon JF, Shaheen K, Chaiyasate K, Rontal M. Ysunza PA, et al. Among authors: calderon jf. Biomed Res Int. 2015;2015:196240. doi: 10.1155/2015/196240. Epub 2015 Jul 26. Biomed Res Int. 2015. PMID: 26273595 Free PMC article. Review.

5

Controversies on the potential therapeutic use of rapamycin for treating a lysosomal cholesterol storage disease.

Calderón JF, Klein AD. Calderón JF, et al. Mol Genet Metab Rep. 2018 May 12;15:135-136. doi: 10.1016/j.ymgmr.2018.05.001. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 30023307 Free PMC article. No abstract available.

6

NPC1 as a Modulator of Disease Severity and Viral Entry of SARSCoV- 2.

Vial C, Calderón JF, Klein AD. Vial C, et al. Among authors: calderon jf. Curr Mol Med. 2021;21(1):2-4. doi: 10.2174/1566524020666200713175426. Curr Mol Med. 2021. PMID: 32660402

7

Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity.

Durán A, Rebolledo-Jaramillo B, Olguin V, Rojas-Herrera M, Las Heras M, Calderón JF, Zanlungo S, Priestman DA, Platt FM, Klein AD. Durán A, et al. Among authors: calderon jf. Biochem Biophys Rep. 2021 Aug 18;28:101105. doi: 10.1016/j.bbrep.2021.101105. eCollection 2021 Dec. Biochem Biophys Rep. 2021. PMID: 34458595 Free PMC article.

8

Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.

Jimenez Y, Paulsen C, Turner E, Iturra S, Cuevas O, Lay-Son G, Repetto GM, Rojas M, Calderon JF. Jimenez Y, et al. Among authors: calderon jf. Genes (Basel). 2022 Jun 8;13(6):1027. doi: 10.3390/genes13061027. Genes (Basel). 2022. PMID: 35741789 Free PMC article.

9

A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids.

Durán A, Priestman DA, Las Heras M, Rebolledo-Jaramillo B, Olguín V, Calderón JF, Zanlungo S, Gutiérrez J, Platt FM, Klein AD. Durán A, et al. Among authors: calderon jf. Int J Mol Sci. 2023 Mar 3;24(5):4915. doi: 10.3390/ijms24054915. Int J Mol Sci. 2023. PMID: 36902345 Free PMC article.

10

Elevated expression levels of lysyl oxidases protect against aortic aneurysm progression in Marfan syndrome.

Busnadiego O, Gorbenko Del Blanco D, González-Santamaría J, Habashi JP, Calderon JF, Sandoval P, Bedja D, Guinea-Viniegra J, Lopez-Cabrera M, Rosell-Garcia T, Snabel JM, Hanemaaijer R, Forteza A, Dietz HC, Egea G, Rodriguez-Pascual F. Busnadiego O, et al. Among authors: calderon jf. J Mol Cell Cardiol. 2015 Aug;85:48-57. doi: 10.1016/j.yjmcc.2015.05.008. Epub 2015 May 16. J Mol Cell Cardiol. 2015. PMID: 25988230 Free article.

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