Sieving PA - Search Results

1

AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration.

Miyagishima KJ, Sharma R, Nimmagadda M, Clore-Gronenborn K, Qureshy Z, Ortolan D, Bose D, Farnoodian M, Zhang C, Fausey A, Sergeev YV, Abu-Asab M, Jun B, Do KV, Kautzman Guerin MA, Calandria J, George A, Guan B, Wan Q, Sharp RC, Cukras C, Sieving PA, Hufnagel RB, Bazan NG, Boesze-Battaglia K, Miller S, Bharti K. Miyagishima KJ, et al. Among authors: sieving pa. Commun Biol. 2021 Dec 9;4(1):1360. doi: 10.1038/s42003-021-02872-x. Commun Biol. 2021. PMID: 34887495 Free PMC article.

2

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.

Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF. Riazuddin SA, et al. Among authors: sieving pa. Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2264-70. doi: 10.1167/iovs.04-1280. Invest Ophthalmol Vis Sci. 2005. PMID: 15980210

3

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Sergeev YV, Caruso RC, Meltzer MR, Smaoui N, MacDonald IM, Sieving PA. Sergeev YV, et al. Among authors: sieving pa. Hum Mol Genet. 2010 Apr 1;19(7):1302-13. doi: 10.1093/hmg/ddq006. Epub 2010 Jan 8. Hum Mol Genet. 2010. PMID: 20061330 Free PMC article.

4

Centrifugal expansion of fundus autofluorescence patterns in Stargardt disease over time.

Cukras CA, Wong WT, Caruso R, Cunningham D, Zein W, Sieving PA. Cukras CA, et al. Among authors: sieving pa. Arch Ophthalmol. 2012 Feb;130(2):171-9. doi: 10.1001/archophthalmol.2011.332. Epub 2011 Oct 10. Arch Ophthalmol. 2012. PMID: 21987580 Free PMC article.

5

X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.

Bowles K, Cukras C, Turriff A, Sergeev Y, Vitale S, Bush RA, Sieving PA. Bowles K, et al. Among authors: sieving pa. Invest Ophthalmol Vis Sci. 2011 Nov 29;52(12):9250-6. doi: 10.1167/iovs.11-8115. Invest Ophthalmol Vis Sci. 2011. PMID: 22039241 Free PMC article.

6

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.

Cukras C, Gaasterland T, Lee P, Gudiseva HV, Chavali VR, Pullakhandam R, Maranhao B, Edsall L, Soares S, Reddy GB, Sieving PA, Ayyagari R. Cukras C, et al. Among authors: sieving pa. PLoS One. 2012;7(11):e50205. doi: 10.1371/journal.pone.0050205. Epub 2012 Nov 26. PLoS One. 2012. PMID: 23189188 Free PMC article.

7

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

Sergeev YV, Vitale S, Sieving PA, Vincent A, Robson AG, Moore AT, Webster AR, Holder GE. Sergeev YV, et al. Among authors: sieving pa. Hum Mol Genet. 2013 Dec 1;22(23):4756-67. doi: 10.1093/hmg/ddt329. Epub 2013 Jul 11. Hum Mol Genet. 2013. PMID: 23847049 Free PMC article.

8

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.

D'Souza L, Cukras C, Antolik C, Craig C, Lee JY, He H, Li S, Smaoui N, Hejtmancik JF, Sieving PA, Wang X. D'Souza L, et al. Among authors: sieving pa. Mol Vis. 2013 Nov 7;19:2209-16. eCollection 2013. Mol Vis. 2013. PMID: 24227916 Free PMC article.

9

Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.

Huynh N, Jeffrey BG, Turriff A, Sieving PA, Cukras CA. Huynh N, et al. Among authors: sieving pa. Ophthalmic Genet. 2014 Mar;35(1):51-6. doi: 10.3109/13816810.2013.865762. Epub 2014 Jan 7. Ophthalmic Genet. 2014. PMID: 24397708 Free PMC article.

10

Subjective and objective screening tests for hydroxychloroquine toxicity.

Cukras C, Huynh N, Vitale S, Wong WT, Ferris FL 3rd, Sieving PA. Cukras C, et al. Among authors: sieving pa. Ophthalmology. 2015 Feb;122(2):356-66. doi: 10.1016/j.ophtha.2014.07.056. Epub 2014 Oct 14. Ophthalmology. 2015. PMID: 25444344 Free PMC article.

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