North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.
暂无分享,去创建一个
Adam P. DeLuca | T. Scheetz | J. Folk | G. Fishman | E. Stone | T. Rosenberg | Charles A. Garcia | T. Rice | B. Tucker | E. Héon | R. Mullins | J. Fingert | L. A. Wiley | S. S. Whitmore | N. Udar | B. Puech | L. Streb | R. Silva-Garcia | Kent W. Small | Christine M. Haas
[1] Dmitri D. Pervouchine,et al. The human transcriptome across tissues and individuals , 2015, Science.
[2] F. Collins,et al. A new initiative on precision medicine. , 2015, The New England journal of medicine.
[3] Adam P. DeLuca,et al. Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq. , 2014, Experimental eye research.
[4] Josep Maria Campistol,et al. The generation of kidney organoids by differentiation of human pluripotent cells to ureteric bud progenitor–like cells , 2014, Nature Protocols.
[5] Elias T. Zambidis,et al. Generation of three dimensional retinal tissue with functional photoreceptors from human iPSCs , 2014, Nature Communications.
[6] E. Stone,et al. CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype , 2014, Gene Therapy.
[7] R. Klein,et al. Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: a systematic review and meta-analysis. , 2014, The Lancet. Global health.
[8] Lars Feuk,et al. The Database of Genomic Variants: a curated collection of structural variation in the human genome , 2013, Nucleic Acids Res..
[9] Madeline A. Lancaster,et al. Cerebral organoids model human brain development and microcephaly , 2013, Nature.
[10] T. Braun,et al. Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa , 2013, eLife.
[11] Adam P. DeLuca,et al. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease , 2013, Human molecular genetics.
[12] E. Stone,et al. Use of a Synthetic Xeno‐Free Culture Substrate for Induced Pluripotent Stem Cell Induction and Retinal Differentiation , 2013, Stem cells translational medicine.
[13] Nathan C. Sheffield,et al. The accessible chromatin landscape of the human genome , 2012, Nature.
[14] Bradley P. Coe,et al. Copy number variation detection and genotyping from exome sequence data , 2012, Genome research.
[15] Helga Thorvaldsdóttir,et al. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration , 2012, Briefings Bioinform..
[16] Adam P. DeLuca,et al. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa , 2011, Proceedings of the National Academy of Sciences.
[17] N. Bressler,et al. Estimated cases of legal blindness and visual impairment avoided using ranibizumab for choroidal neovascularization: non-Hispanic white population in the United States with age-related macular degeneration. , 2011, Archives of ophthalmology.
[18] Glenn J Jaffe,et al. Ranibizumab and bevacizumab for neovascular age-related macular degeneration. , 2011, The New England journal of medicine.
[19] J. Tena,et al. An evolutionarily conserved three-dimensional structure in the vertebrate Irx clusters facilitates enhancer sharing and coregulation. , 2011, Nature communications.
[20] T. Adachi,et al. Self-organizing optic-cup morphogenesis in three-dimensional culture , 2011, Nature.
[21] M. Larsen,et al. Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy , 2010, Molecular vision.
[22] Elizabeth E. Hoskins,et al. Directed differentiation of human pluripotent stem cells into intestinal tissue in vitro , 2010, Nature.
[23] D. Altshuler,et al. A map of human genome variation from population-scale sequencing , 2010, Nature.
[24] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[25] G. Daley,et al. Transplantation of Adult Mouse iPS Cell-Derived Photoreceptor Precursors Restores Retinal Structure and Function in Degenerative Mice , 2010, PloS one.
[26] Richard Durbin,et al. Fast and accurate long-read alignment with Burrows–Wheeler transform , 2010, Bioinform..
[27] Kai Ye,et al. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads , 2009, Bioinform..
[28] J. Provis,et al. Differential expression of anti-angiogenic factors and guidance genes in the developing macula , 2009, Molecular vision.
[29] D. Hunt,et al. Clinical characterization and genetic mapping of North Carolina macular dystrophy , 2008, Vision Research.
[30] K. Eng,et al. Ranibizumab in neovascular age-related macular degeneration , 2006, Clinical interventions in aging.
[31] Philip J Rosenfeld,et al. Optical coherence tomography findings after an intravitreal injection of bevacizumab (avastin) for neovascular age-related macular degeneration. , 2005, Ophthalmic surgery, lasers & imaging : the official journal of the International Society for Imaging in the Eye.
[32] Benita J. O’Colmain,et al. Prevalence of age-related macular degeneration in the United States. , 2004, Archives of ophthalmology.
[33] D. Hunt,et al. An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5. , 2003, Investigative ophthalmology & visual science.
[34] Val C. Sheffield,et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome , 2002, Nature Genetics.
[35] M. Pericak-Vance,et al. North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis. , 1999, Molecular vision.
[36] D. Hunt,et al. Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q , 1998, The British journal of ophthalmology.
[37] Charles A. Garcia,et al. NORTH CAROLINA MACULAR DYSTROPHY (MCDR1) IN TEXAS , 1998, Retina.
[38] F. Kruse,et al. MACULAR FUNCTION TESTING IN A GERMAN PEDIGREE WITH NORTH CAROLINA MACULAR DYSTROPHY , 1998, Retina.
[39] M. Rabb,et al. A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus. , 1998, American journal of ophthalmology.
[40] M. Ulbig,et al. An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1). , 1997, Journal of medical genetics.
[41] D. Pauleikhoff,et al. Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German family. , 1997, American journal of ophthalmology-glaucoma.
[42] S. Yelchits,et al. North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus. , 1997, Molecular vision.
[43] J. Keltner,et al. The variable expressivity of a family with central areolar pigment epithelial dystrophy. , 1996, Ophthalmology.
[44] J. Weber,et al. North Carolina macular dystrophy (MCDR1) , 1993 .
[45] J. Weber,et al. North Carolina macular dystrophy is assigned to chromosome 6. , 1992, Genomics.
[46] J. Folk,et al. North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease. , 1992, Archives of ophthalmology.
[47] K. Small,et al. North Carolina's dominant progressive foveal dystrophy: how progressive is it? , 1991, The British journal of ophthalmology.
[48] K. Small. North Carolina macular dystrophy, revisited. , 1989, Ophthalmology.
[49] E. Choromokos,et al. Central areolar pigment epithelial dystrophy. , 1976, American journal of ophthalmology.
[50] M. Landers,et al. A new dominant progressive foveal dystrophy. , 1974, American journal of ophthalmology.
[51] G. G. Galli,et al. PRDM proteins: important players in differentiation and disease. , 2012, BioEssays : news and reviews in molecular, cellular and developmental biology.
[52] J. Vander. Ranibizumab and Bevacizumab for Neovascular Age-Related Macular Degeneration , 2012 .
[53] Usha Chakravarthy,et al. The natural history and prognosis of neovascular age-related macular degeneration: a systematic review of the literature and meta-analysis. , 2008, Ophthalmology.
[54] Claude-Alain H. Roten,et al. Theoretical and practical advances in genome halving , 2004 .
[55] K. Small. North Carolina macular dystrophy: clinical features, genealogy, and genetic linkage analysis. , 1998, Transactions of the American Ophthalmological Society.
[56] Hermsen Vm,et al. Central areolar pigment epithelial dystrophy. , 1984 .
[57] V. Hermsen,et al. Central areolar pigment epithelial dystrophy. , 1984, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.
[58] J. Sidbury,et al. Hereditary macular degeneration and amino-aciduria. , 1971, American journal of ophthalmology.