Villanueva-Mendoza C - Search Results

1

Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations.

Zenteno JC, Correa-Gomez V, Santacruz-Valdez C, Suarez-Sanchez R, Villanueva-Mendoza C. Zenteno JC, et al. Exp Eye Res. 2009 Aug;89(2):172-7. doi: 10.1016/j.exer.2009.03.004. Epub 2009 Mar 18. Exp Eye Res. 2009. PMID: 19303004

2

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.

Matías-Pérez D, García-Montaño LA, Cruz-Aguilar M, García-Montalvo IA, Nava-Valdéz J, Barragán-Arevalo T, Villanueva-Mendoza C, Villarroel CE, Guadarrama-Vallejo C, la Cruz RV, Chacón-Camacho O, Zenteno JC. Matías-Pérez D, et al. J Hum Genet. 2018 Nov;63(11):1169-1180. doi: 10.1038/s10038-018-0504-1. Epub 2018 Sep 4. J Hum Genet. 2018. PMID: 30181649

3

Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.

Pelcastre EL, Villanueva-Mendoza C, Zenteno JC. Pelcastre EL, et al. Clin Exp Ophthalmol. 2010 May;38(4):367-74. doi: 10.1111/j.1442-9071.2010.02245.x. Epub 2010 Feb 22. Clin Exp Ophthalmol. 2010. PMID: 20491809

4

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.

Zenteno JC, Buentello-Volante B, Ayala-Ramirez R, Villanueva-Mendoza C. Zenteno JC, et al. Am J Med Genet A. 2011 May;155A(5):1001-6. doi: 10.1002/ajmg.a.33862. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484995

5

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.

Cortés-González V, Zenteno JC, Guzmán-Sánchez M, Giordano-Herrera V, Guadarrama-Vallejo D, Ruíz-Quintero N, Villanueva-Mendoza C. Cortés-González V, et al. Am J Med Genet A. 2016 Dec;170(12):3294-3297. doi: 10.1002/ajmg.a.37937. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27604145

6

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.

Blackburn PR, Chacon-Camacho OF, Ortiz-González XR, Reyes M, Lopez-Uriarte GA, Zarei S, Bhoj EJ, Perez-Solorzano S, Vaubel RA, Murphree MI, Nava J, Cortes-Gonzalez V, Parisi JE, Villanueva-Mendoza C, Tirado-Torres IG, Li D, Klee EW, Pichurin PN, Zenteno JC. Blackburn PR, et al. Am J Med Genet A. 2018 Dec;176(12):2710-2719. doi: 10.1002/ajmg.a.40644. Epub 2018 Nov 18. Am J Med Genet A. 2018. PMID: 30450772

7

Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene.

Villanueva-Mendoza C, artínez-Guzmán O, Rivera-Parra D, Zenteno JC. Villanueva-Mendoza C, et al. Ophthalmic Genet. 2009 Mar;30(1):45-9. doi: 10.1080/13816810802502962. Ophthalmic Genet. 2009. PMID: 19172511

8

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. 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

9

Familial case of Blau syndrome associated with a CARD15/NOD2 mutation.

Villanueva-Mendoza C, Arellanes-García L, Cubas-Lorenzo V, Jimenez-Martinez MC, Flores-Suárez LF, Zenteno JC. Villanueva-Mendoza C, et al. Ophthalmic Genet. 2010 Sep;31(3):155-8. doi: 10.3109/13816810.2010.492818. Ophthalmic Genet. 2010. PMID: 20565245

10

Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects.

Rivera D, Mejia-Lopez H, Pompa-Mera EN, Villanueva-Mendoza C, Nava-Castañeda A, Garnica-Hayashi L, Cuevas-Covarrubias S, Zenteno JC. Rivera D, et al. Br J Ophthalmol. 2008 Jul;92(7):998-1002. doi: 10.1136/bjo.2007.131482. Br J Ophthalmol. 2008. PMID: 18577654

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