These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

234 related articles for article (PubMed ID: 25414380)

  • 1. Leber congenital amaurosis caused by mutations in RPGRIP1.
    Li T
    Cold Spring Harb Perspect Med; 2014 Nov; 5(4):. PubMed ID: 25414380
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis.
    Pawlyk BS; Bulgakov OV; Liu X; Xu X; Adamian M; Sun X; Khani SC; Berson EL; Sandberg MA; Li T
    Hum Gene Ther; 2010 Aug; 21(8):993-1004. PubMed ID: 20384479
    [TBL] [Abstract][Full Text] [Related]  

  • 3. RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.
    Koenekoop RK
    Ophthalmic Genet; 2005 Dec; 26(4):175-9. PubMed ID: 16352478
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Non-syndromic retinal ciliopathies: translating gene discovery into therapy.
    Estrada-Cuzcano A; Roepman R; Cremers FP; den Hollander AI; Mans DA
    Hum Mol Genet; 2012 Oct; 21(R1):R111-24. PubMed ID: 22843501
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.
    Cideciyan AV; Jacobson SG; Beltran WA; Sumaroka A; Swider M; Iwabe S; Roman AJ; Olivares MB; Schwartz SB; Komáromy AM; Hauswirth WW; Aguirre GD
    Proc Natl Acad Sci U S A; 2013 Feb; 110(6):E517-25. PubMed ID: 23341635
    [TBL] [Abstract][Full Text] [Related]  

  • 6. RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.
    Won J; Gifford E; Smith RS; Yi H; Ferreira PA; Hicks WL; Li T; Naggert JK; Nishina PM
    Hum Mol Genet; 2009 Nov; 18(22):4329-39. PubMed ID: 19679561
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.
    Imani S; Cheng J; Mobasher-Jannat A; Wei C; Fu S; Yang L; Jadidi K; Khosravi MH; Mohazzab-Torabi S; Shasaltaneh MD; Li Y; Chen R; Fu J
    J Cell Mol Med; 2018 Mar; 22(3):1733-1742. PubMed ID: 29193763
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
    Roepman R; Letteboer SJ; Arts HH; van Beersum SE; Lu X; Krieger E; Ferreira PA; Cremers FP
    Proc Natl Acad Sci U S A; 2005 Dec; 102(51):18520-5. PubMed ID: 16339905
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis.
    Abouzeid H; Othman IS; Schorderet DF
    Klin Monbl Augenheilkd; 2016 Apr; 233(4):456-9. PubMed ID: 27116508
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.
    Downs LM; Scott EM; Cideciyan AV; Iwabe S; Dufour V; Gardiner KL; Genini S; Marinho LF; Sumaroka A; Kosyk MS; Swider M; Aguirre GK; Jacobson SG; Beltran WA; Aguirre GD
    Hum Mol Genet; 2016 Oct; 25(19):4211-4226. PubMed ID: 27506978
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
    Khan AO; Al-Mesfer S; Al-Turkmani S; Bergmann C; Bolz HJ
    Br J Ophthalmol; 2014 Dec; 98(12):1724-8. PubMed ID: 24997176
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.
    Ali M; Hocking PM; McKibbin M; Finnegan S; Shires M; Poulter JA; Prescott K; Booth A; Raashid Y; Jafri H; Ruddle JB; Mackey DA; Jacobson SG; Toomes C; Lester DH; Burt DW; Curry WJ; Inglehearn CF
    Invest Ophthalmol Vis Sci; 2011 Sep; 52(10):7432-40. PubMed ID: 21862650
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.
    Jacobson SG; Cideciyan AV; Aleman TS; Sumaroka A; Schwartz SB; Roman AJ; Stone EM
    Ophthalmology; 2007 May; 114(5):895-8. PubMed ID: 17306875
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Leber congenital amaurosis: genes, proteins and disease mechanisms.
    den Hollander AI; Roepman R; Koenekoop RK; Cremers FP
    Prog Retin Eye Res; 2008 Jul; 27(4):391-419. PubMed ID: 18632300
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP.
    Pawlyk BS; Smith AJ; Buch PK; Adamian M; Hong DH; Sandberg MA; Ali RR; Li T
    Invest Ophthalmol Vis Sci; 2005 Sep; 46(9):3039-45. PubMed ID: 16123399
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The RPGRIP1-related retinal phenotype in children.
    Khan AO; Abu-Safieh L; Eisenberger T; Bolz HJ; Alkuraya FS
    Br J Ophthalmol; 2013 Jun; 97(6):760-4. PubMed ID: 23505306
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons.
    Patil H; Tserentsoodol N; Saha A; Hao Y; Webb M; Ferreira PA
    Cell Death Dis; 2012 Jul; 3(7):e355. PubMed ID: 22825473
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
    Srilekha S; Arokiasamy T; Srikrupa NN; Umashankar V; Meenakshi S; Sen P; Kapur S; Soumittra N
    PLoS One; 2015; 10(7):e0131679. PubMed ID: 26147992
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).
    Pang JJ; Chang B; Hawes NL; Hurd RE; Davisson MT; Li J; Noorwez SM; Malhotra R; McDowell JH; Kaushal S; Hauswirth WW; Nusinowitz S; Thompson DA; Heckenlively JR
    Mol Vis; 2005 Feb; 11():152-62. PubMed ID: 15765048
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.
    Gerber S; Perrault I; Hanein S; Barbet F; Ducroq D; Ghazi I; Martin-Coignard D; Leowski C; Homfray T; Dufier JL; Munnich A; Kaplan J; Rozet JM
    Eur J Hum Genet; 2001 Aug; 9(8):561-71. PubMed ID: 11528500
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.