Villanueva AL - Search Results

1

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. Biswas P, et al. Among authors: villanueva al. PLoS Genet. 2021 Oct 18;17(10):e1009848. doi: 10.1371/journal.pgen.1009848. eCollection 2021 Oct. PLoS Genet. 2021. PMID: 34662339 Free PMC article.

2

Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.

Villanueva A, Biswas P, Kishaba K, Suk J, Tadimeti K, Raghavendra PB, Nadeau K, Lamontagne B, Busque L, Geoffroy S, Mongrain I, Asselin G, Provost S, Dubé MP, Nudleman E, Ayyagari R. Villanueva A, et al. Ophthalmic Genet. 2018 Jan-Feb;39(1):73-79. doi: 10.1080/13816810.2017.1373830. Epub 2017 Sep 25. Ophthalmic Genet. 2018. PMID: 28945494 Free PMC article.

3

Phenotype and genotype of patients with autosomal recessive bestrophinopathy.

MacDonald IM, Gudiseva HV, Villanueva A, Greve M, Caruso R, Ayyagari R. MacDonald IM, et al. Ophthalmic Genet. 2012 Sep;33(3):123-9. doi: 10.3109/13816810.2011.592172. Epub 2011 Aug 2. Ophthalmic Genet. 2012. PMID: 21809908

4

Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.

Villanueva A, Willer JR, Bryois J, Dermitzakis ET, Katsanis N, Davis EE. Villanueva A, et al. Invest Ophthalmol Vis Sci. 2014 Apr 7;55(4):2121-9. doi: 10.1167/iovs.13-13827. Invest Ophthalmol Vis Sci. 2014. PMID: 24595387 Free PMC article.

5

Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.

Yang U, Gentleman S, Gai X, Gorin MB, Borchert MS, Lee TC, Villanueva A, Koenekoop R, Maguire AM, Bennett J, Redmond TM, Nagiel A. Yang U, et al. JAMA Ophthalmol. 2019 Dec 1;137(12):1381-1388. doi: 10.1001/jamaophthalmol.2019.3914. JAMA Ophthalmol. 2019. PMID: 31580392 Free PMC article.

6

Engineered variants of human glutamic acid decarboxylase (GAD) and autoantibody epitope recognition.

Primo ME, Anton EA, Villanueva AL, Poskus E, Ermácora MR. Primo ME, et al. Among authors: villanueva al. Clin Immunol. 2003 Jul;108(1):38-45. doi: 10.1016/s1521-6616(03)00061-5. Clin Immunol. 2003. PMID: 12865069

7

Replacement of methionine-161 with threonine eliminates a major by-product of human glutamate decarboxylase 65-kDa variant expression in Escherichia coli.

Santos J, Antón EA, Buslje CM, Valdez SN, Villanueva AL, Sica M, Iacono R, Maffia P, Poskus E, Ermácora MR. Santos J, et al. Among authors: villanueva al. Biotechnol Appl Biochem. 2000 Jun;31(3):205-12. doi: 10.1042/ba19990103. Biotechnol Appl Biochem. 2000. PMID: 10814590

8

Increased adrenocortical responsiveness to exogenous ACTH in oral contraceptive users.

Fujimoto VY, Villanueva AL, Hopper B, Moscinski M, Rebar RW. Fujimoto VY, et al. Among authors: villanueva al. Adv Contracept. 1986 Dec;2(4):343-53. doi: 10.1007/BF02340051. Adv Contracept. 1986. PMID: 3031940

9

Increased cortisol production in women runners.

Villanueva AL, Schlosser C, Hopper B, Liu JH, Hoffman DI, Rebar RW. Villanueva AL, et al. J Clin Endocrinol Metab. 1986 Jul;63(1):133-6. doi: 10.1210/jcem-63-1-133. J Clin Endocrinol Metab. 1986. PMID: 3011836

10

Conservative treatment of ectopic pregnancy with methotrexate.

Ory SJ, Villanueva AL, Sand PK, Tamura RK. Ory SJ, et al. Among authors: villanueva al. Am J Obstet Gynecol. 1986 Jun;154(6):1299-306. doi: 10.1016/0002-9378(86)90716-7. Am J Obstet Gynecol. 1986. PMID: 2940870

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