Chavarria-Soley G - Search Results

1

Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).

Chavarria-Soley G, Michels-Rautenstrauss K, Caliebe A, Kautza M, Mardin C, Rautenstrauss B. Chavarria-Soley G, et al. J Glaucoma. 2006 Dec;15(6):499-504. doi: 10.1097/01.ijg.0000243467.28590.6a. J Glaucoma. 2006. PMID: 17106362

2

Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.

Chavarria-Soley G, Michels-Rautenstrauss K, Pasutto F, Flikier D, Flikier P, Cirak S, Bejjani B, Winters DL, Lewis RA, Mardin C, Reis A, Rautenstrauss B. Chavarria-Soley G, et al. Mol Vis. 2006 May 22;12:523-31. Mol Vis. 2006. PMID: 16735994 Free article.

3

Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.

Pasutto F, Chavarria-Soley G, Mardin CY, Michels-Rautenstrauss K, Ingelman-Sundberg M, Fernández-Martínez L, Weber BH, Rautenstrauss B, Reis A. Pasutto F, et al. Among authors: chavarria soley g. Invest Ophthalmol Vis Sci. 2010 Jan;51(1):249-54. doi: 10.1167/iovs.09-3880. Epub 2009 Jul 30. Invest Ophthalmol Vis Sci. 2010. PMID: 19643970 Free article.

4

Profiling of WDR36 missense variants in German patients with glaucoma.

Pasutto F, Mardin CY, Michels-Rautenstrauss K, Weber BH, Sticht H, Chavarria-Soley G, Rautenstrauss B, Kruse F, Reis A. Pasutto F, et al. Invest Ophthalmol Vis Sci. 2008 Jan;49(1):270-4. doi: 10.1167/iovs.07-0500. Invest Ophthalmol Vis Sci. 2008. PMID: 18172102 Free article.

5

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

Chavarria-Soley G, Sticht H, Aklillu E, Ingelman-Sundberg M, Pasutto F, Reis A, Rautenstrauss B. Chavarria-Soley G, et al. Hum Mutat. 2008 Sep;29(9):1147-53. doi: 10.1002/humu.20786. Hum Mutat. 2008. PMID: 18470941

6

Glaucoma in Costa Rica. Initial approaches.

Chavarría-Soley G, Rautenstrauss BI, Azofeifa J. Chavarría-Soley G, et al. Rev Biol Trop. 2004 Sep;52(3):507-20. doi: 10.15517/rbt.v1i2.15290. Rev Biol Trop. 2004. PMID: 17361544

7

Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.

El-Gayar S, Ganesh A, Chavarria-Soley G, Al-Zuhaibi S, Al-Mjeni R, Raeburn S, Bialasiewicz AA. El-Gayar S, et al. Among authors: chavarria soley g. Mol Vis. 2009 Jul 8;15:1325-31. Mol Vis. 2009. PMID: 19597567 Free PMC article.

8

Absolute pitch in Costa Rica: Distribution of pitch identification ability and implications for its genetic basis.

Chavarria-Soley G. Chavarria-Soley G. J Acoust Soc Am. 2016 Aug;140(2):891. doi: 10.1121/1.4960569. J Acoust Soc Am. 2016. PMID: 27586721

9

Attitudes of Costa Rican individuals towards donation of personal genetic data for research.

Chavarria-Soley G, Francis-Cartin F, Jimenez-Gonzalez F, Ávila-Aguirre A, Castro-Gomez MJ, Robarts L, Middleton A, Raventós H. Chavarria-Soley G, et al. Per Med. 2021 Mar;18(2):141-152. doi: 10.2217/pme-2020-0113. Epub 2021 Feb 12. Per Med. 2021. PMID: 33576268 Free PMC article.

10

Genome-wide QTL analysis for anxiety trait in bipolar disorder type I.

Contreras J, Hare E, Chavarría-Soley G, Raventós H. Contreras J, et al. Among authors: chavarria soley g. J Affect Disord. 2018 Jul;234:105-108. doi: 10.1016/j.jad.2017.12.019. Epub 2017 Dec 11. J Affect Disord. 2018. PMID: 29525350

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