Mullins RF - Search Results

1

Predicting the pathogenicity of RPE65 mutations.

Philp AR, Jin M, Li S, Schindler EI, Iannaccone A, Lam BL, Weleber RG, Fishman GA, Jacobson SG, Mullins RF, Travis GH, Stone EM. Philp AR, et al. Among authors: mullins rf. Hum Mutat. 2009 Aug;30(8):1183-8. doi: 10.1002/humu.21033. Hum Mutat. 2009. PMID: 19431183 Free PMC article.

2

Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors.

Lotery AJ, Derksen TA, Russell SR, Mullins RF, Sauter S, Affatigato LM, Stone EM, Davidson BL. Lotery AJ, et al. Among authors: mullins rf. Hum Gene Ther. 2002 Apr 10;13(6):689-96. doi: 10.1089/104303402317322258. Hum Gene Ther. 2002. PMID: 11936968

3

Adeno-associated virus type 5: transduction efficiency and cell-type specificity in the primate retina.

Lotery AJ, Yang GS, Mullins RF, Russell SR, Schmidt M, Stone EM, Lindbloom JD, Chiorini JA, Kotin RM, Davidson BL. Lotery AJ, et al. Among authors: mullins rf. Hum Gene Ther. 2003 Nov 20;14(17):1663-71. doi: 10.1089/104303403322542301. Hum Gene Ther. 2003. PMID: 14633408

4

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.

Nishimura DY, Fath M, Mullins RF, Searby C, Andrews M, Davis R, Andorf JL, Mykytyn K, Swiderski RE, Yang B, Carmi R, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: mullins rf. Proc Natl Acad Sci U S A. 2004 Nov 23;101(47):16588-93. doi: 10.1073/pnas.0405496101. Epub 2004 Nov 11. Proc Natl Acad Sci U S A. 2004. PMID: 15539463 Free PMC article.

5

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.

Fath MA, Mullins RF, Searby C, Nishimura DY, Wei J, Rahmouni K, Davis RE, Tayeh MK, Andrews M, Yang B, Sigmund CD, Stone EM, Sheffield VC. Fath MA, et al. Among authors: mullins rf. Hum Mol Genet. 2005 May 1;14(9):1109-18. doi: 10.1093/hmg/ddi123. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772095

6

Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation.

Mullins RF, Oh KT, Heffron E, Hageman GS, Stone EM. Mullins RF, et al. Arch Ophthalmol. 2005 Nov;123(11):1588-94. doi: 10.1001/archopht.123.11.1588. Arch Ophthalmol. 2005. PMID: 16286623

7

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function.

Yen HJ, Tayeh MK, Mullins RF, Stone EM, Sheffield VC, Slusarski DC. Yen HJ, et al. Among authors: mullins rf. Hum Mol Genet. 2006 Mar 1;15(5):667-77. doi: 10.1093/hmg/ddi468. Epub 2006 Jan 6. Hum Mol Genet. 2006. PMID: 16399798

8

Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His.

Grassi MA, Fingert JH, Scheetz TE, Roos BR, Ritch R, West SK, Kawase K, Shire AM, Mullins RF, Stone EM. Grassi MA, et al. Among authors: mullins rf. Hum Mutat. 2006 Sep;27(9):921-5. doi: 10.1002/humu.20359. Hum Mutat. 2006. PMID: 16865697

9

Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.

Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE, Mullins RF, Graphodatsky AS, Ripoll D, Felix JS, Stone EM, Acland GM, Aguirre GD. Zangerl B, et al. Among authors: mullins rf. Genomics. 2006 Nov;88(5):551-63. doi: 10.1016/j.ygeno.2006.07.007. Epub 2006 Aug 30. Genomics. 2006. PMID: 16938425 Free PMC article.

10

Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration.

Mullins RF, Olvera MA, Clark AF, Stone EM. Mullins RF, et al. Exp Eye Res. 2007 Feb;84(2):378-80. doi: 10.1016/j.exer.2006.09.021. Epub 2006 Nov 14. Exp Eye Res. 2007. PMID: 17109857 Free PMC article.

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