Sieving PA - Search Results

1

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF. Li L, et al. Among authors: sieving pa. PLoS Genet. 2018 Aug 29;14(8):e1007504. doi: 10.1371/journal.pgen.1007504. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30157172 Free PMC article.

2

Retinopathy induced in mice by targeted disruption of the rhodopsin gene.

Humphries MM, Rancourt D, Farrar GJ, Kenna P, Hazel M, Bush RA, Sieving PA, Sheils DM, McNally N, Creighton P, Erven A, Boros A, Gulya K, Capecchi MR, Humphries P. Humphries MM, et al. Among authors: sieving pa. Nat Genet. 1997 Feb;15(2):216-9. doi: 10.1038/ng0297-216. Nat Genet. 1997. PMID: 9020854

3

Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci.

Griesinger IB, Sieving PA, Ayyagari R. Griesinger IB, et al. Among authors: sieving pa. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):248-55. Invest Ophthalmol Vis Sci. 2000. PMID: 10634627

4

Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease.

Sieving PA, Yashar BM, Ayyagari R. Sieving PA, et al. Trans Am Ophthalmol Soc. 1999;97:451-64; discussion 464-9. Trans Am Ophthalmol Soc. 1999. PMID: 10703138 Free PMC article.

5

Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy.

Ayyagari R, Kakuk LE, Bingham EL, Szczesny JJ, Kemp J, Toda Y, Felius J, Sieving PA. Ayyagari R, et al. Among authors: sieving pa. Hum Genet. 2000 Jul;107(1):75-82. doi: 10.1007/s004390000338. Hum Genet. 2000. PMID: 10982039 Free article.

6

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.

Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K. Zhang K, et al. Among authors: sieving pa. Nat Genet. 2001 Jan;27(1):89-93. doi: 10.1038/83817. Nat Genet. 2001. PMID: 11138005

7

Nrl is required for rod photoreceptor development.

Mears AJ, Kondo M, Swain PK, Takada Y, Bush RA, Saunders TL, Sieving PA, Swaroop A. Mears AJ, et al. Among authors: sieving pa. Nat Genet. 2001 Dec;29(4):447-52. doi: 10.1038/ng774. Nat Genet. 2001. PMID: 11694879

8

X-linked recessive atrophic macular degeneration from RPGR mutation.

Ayyagari R, Demirci FY, Liu J, Bingham EL, Stringham H, Kakuk LE, Boehnke M, Gorin MB, Richards JE, Sieving PA. Ayyagari R, et al. Among authors: sieving pa. Genomics. 2002 Aug;80(2):166-71. doi: 10.1006/geno.2002.6815. Genomics. 2002. PMID: 12160730

9

Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.

Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP. Rivolta C, et al. Among authors: sieving pa. Mol Vis. 2003 Feb 18;9:49-51. Mol Vis. 2003. PMID: 12592226 Free article.

10

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER. Ahmed ZM, et al. Hum Mol Genet. 2003 Dec 15;12(24):3215-23. doi: 10.1093/hmg/ddg358. Epub 2003 Oct 21. Hum Mol Genet. 2003. PMID: 14570705

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