Literature DB >> 19430282

Diagnostic and therapeutic challenges.

Sam Yang1, Sidhiporn Borirakchanyavat, Brian T Chan-Kai, J Timothy Stout, Arthur D Fu.   

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Year:  2009        PMID： 19430282      PMCID： PMC2879043          DOI： 10.1097/IAE.0b013e3181a0bde9

Source DB:  PubMed          Journal:  Retina        ISSN： 0275-004X            Impact factor:   4.256


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  6 in total

1.  Genetic and phenotypic heterogeneity in pattern dystrophy.

Authors:  P J Francis; D W Schultz; A M Gregory; M B Schain; R Barra; J Majewski; J Ott; T Acott; R G Weleber; M L Klein
Journal:  Br J Ophthalmol       Date:  2005-09       Impact factor: 4.638

2.  Fundus autofluorescence imaging of retinal dystrophies.

Authors:  Camiel J F Boon; B Jeroen Klevering; Jan E E Keunen; Carel B Hoyng; Thomas Theelen
Journal:  Vision Res       Date:  2008-03-04       Impact factor: 1.886

3.  A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.

Authors:  E M Stone; A J Lotery; F L Munier; E Héon; B Piguet; R H Guymer; K Vandenburgh; P Cousin; D Nishimura; R E Swiderski; G Silvestri; D A Mackey; G S Hageman; A C Bird; V C Sheffield; D F Schorderet
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

4.  A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

Authors:  R Allikmets; N Singh; H Sun; N F Shroyer; A Hutchinson; A Chidambaram; B Gerrard; L Baird; D Stauffer; A Peiffer; A Rattner; P Smallwood; Y Li; K L Anderson; R A Lewis; J Nathans; M Leppert; M Dean; J R Lupski
Journal:  Nat Genet       Date:  1997-03       Impact factor: 38.330

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

Authors:  K Zhang; M Kniazeva; M Han; W Li; Z Yu; Z Yang; Y Li; M L Metzker; R Allikmets; D J Zack; L E Kakuk; P S Lagali; P W Wong; I M MacDonald; P A Sieving; D J Figueroa; C P Austin; R J Gould; R Ayyagari; K Petrukhin
Journal:  Nat Genet       Date:  2001-01       Impact factor: 38.330

Review 6.  The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene.

Authors:  Camiel J F Boon; Anneke I den Hollander; Carel B Hoyng; Frans P M Cremers; B Jeroen Klevering; Jan E E Keunen
Journal:  Prog Retin Eye Res       Date:  2008-01-26       Impact factor: 21.198
  6 in total

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