Zenteno JC - Search Results

1

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.

Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Miyake N, et al. Among authors: zenteno jc. Science. 2008 Aug 8;321(5890):839-43. doi: 10.1126/science.1156121. Epub 2008 Jul 24. Science. 2008. PMID: 18653847 Free PMC article.

2

Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.

Murillo-Correa CE, Kon-Jara V, Engle EC, Zenteno JC. Murillo-Correa CE, et al. Among authors: zenteno jc. J AAPOS. 2009 Jun;13(3):245-8. doi: 10.1016/j.jaapos.2009.03.007. J AAPOS. 2009. PMID: 19541263 Free PMC article.

3

Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome.

Chacón-Camacho ÓF, Cabral-Macías J, Ayala-Ramírez R, Arteaga-Vázquez J, Svyryd Y, Helmes K, Pérez-Hernández N, Mutchinick OM, Zenteno JC. Chacón-Camacho ÓF, et al. Among authors: zenteno jc. Rev Invest Clin. 2016 Sep-Oct;68(5):269-274. Rev Invest Clin. 2016. PMID: 27941963

4

Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.

Zenteno JC, Ruiz G, Pérez-Cano HJ, Camargo M. Zenteno JC, et al. Mol Vis. 2008 Jul 25;14:1353-7. Mol Vis. 2008. PMID: 18660851 Free PMC article.

5

Left-sided Duane's syndrome and retinal coloboma associated with contralateral microphthalmia.

Garnica-Hayashi RE, Vargas-Ortega J, Zenteno JC. Garnica-Hayashi RE, et al. Among authors: zenteno jc. Strabismus. 2007 Apr-Jun;15(2):113-7. doi: 10.1080/09273970701431418. Strabismus. 2007. PMID: 17564942

6

CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract.

Zenteno JC, Morales ME, Moran-Barroso V, Sanchez-Navarro A. Zenteno JC, et al. Mol Vis. 2005 Jun 30;11:438-42. Mol Vis. 2005. PMID: 16030500 Free article.

7

The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy.

Correa-Gomez V, Villalvazo-Cordero L, Zenteno JC. Correa-Gomez V, et al. Among authors: zenteno jc. Mol Vis. 2007 Sep 17;13:1695-700. Mol Vis. 2007. PMID: 17893671

8

[PCR-based detection of heteroplasmic deleted mitochondrial DNA in Kearns-Sayre syndrome].

Ramírez-Miranda A, Navas-Pérez A, Gurria-Quintana L, Vargas-Ortega J, Murillo-Correa C, Zenteno JC. Ramírez-Miranda A, et al. Among authors: zenteno jc. Arch Soc Esp Oftalmol. 2008 Mar;83(3):155-9. doi: 10.4321/s0365-66912008000300005. Arch Soc Esp Oftalmol. 2008. PMID: 18311673 Spanish.

9

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.

Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z, Zenteno JC. Gonzalez-Rodriguez J, et al. Among authors: zenteno jc. Br J Ophthalmol. 2010 Aug;94(8):1100-4. doi: 10.1136/bjo.2009.173500. Epub 2010 May 21. Br J Ophthalmol. 2010. PMID: 20494911

10

Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity.

Rivera-De la Parra D, Cabral-Macias J, Matias-Florentino M, Rodriguez-Ruiz G, Robredo V, Zenteno JC. Rivera-De la Parra D, et al. Among authors: zenteno jc. Gene. 2013 Apr 25;519(1):173-6. doi: 10.1016/j.gene.2013.01.048. Epub 2013 Feb 9. Gene. 2013. PMID: 23402891

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