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Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction

(2013) OPHTHALMOLOGY. 120(6). p.1239-1246
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Keywords
RECESSIVE RETINITIS-PIGMENTOSA, TUBBY-LIKE PROTEIN-1, LEBER CONGENITAL AMAUROSIS, RETINAL DEGENERATION, PHOTORECEPTOR CELLS, ROD DYSTROPHIES, DISOMY UPD, PHENOTYPES, MICE, AUTOFLUORESCENCE

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Citation

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MLA
Roosing, Susanne, L Ingeborgh van den Bon, Carel B Hoyng, et al. “Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction.” OPHTHALMOLOGY 120.6 (2013): 1239–1246. Print.
APA
Roosing, S., van den Bon, L. I., Hoyng, C. B., Thiadeus, A. A., De Baere, E., Collin, R. W., Koenekoop, R. K., et al. (2013). Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. OPHTHALMOLOGY, 120(6), 1239–1246.
Chicago author-date
Roosing, Susanne, L Ingeborgh van den Bon, Carel B Hoyng, Alberta AHJ Thiadeus, Elfride De Baere, Rob WJ Collin, Robert K Koenekoop, et al. 2013. “Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction.” Ophthalmology 120 (6): 1239–1246.
Chicago author-date (all authors)
Roosing, Susanne, L Ingeborgh van den Bon, Carel B Hoyng, Alberta AHJ Thiadeus, Elfride De Baere, Rob WJ Collin, Robert K Koenekoop, Bart Leroy, Norka van Moll-Ramirez, Hanka Venselaar, Frans CC Riemslag, Frans PM Cremers, Caroline CW Klaver, and Anneke I den Hollander. 2013. “Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction.” Ophthalmology 120 (6): 1239–1246.
Vancouver
1.
Roosing S, van den Bon LI, Hoyng CB, Thiadeus AA, De Baere E, Collin RW, et al. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. OPHTHALMOLOGY. 2013;120(6):1239–46.
IEEE
[1]
S. Roosing et al., “Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction,” OPHTHALMOLOGY, vol. 120, no. 6, pp. 1239–1246, 2013.
@article{3170559,
  author       = {Roosing, Susanne and van den Bon, L Ingeborgh and Hoyng, Carel B and Thiadeus, Alberta AHJ and De Baere, Elfride and Collin, Rob WJ and Koenekoop, Robert K and Leroy, Bart and van Moll-Ramirez, Norka and Venselaar, Hanka and Riemslag, Frans CC and Cremers, Frans PM and Klaver, Caroline CW and den Hollander, Anneke I},
  issn         = {0161-6420},
  journal      = {OPHTHALMOLOGY},
  keywords     = {RECESSIVE RETINITIS-PIGMENTOSA,TUBBY-LIKE PROTEIN-1,LEBER CONGENITAL AMAUROSIS,RETINAL DEGENERATION,PHOTORECEPTOR CELLS,ROD DYSTROPHIES,DISOMY UPD,PHENOTYPES,MICE,AUTOFLUORESCENCE},
  language     = {eng},
  number       = {6},
  pages        = {1239--1246},
  title        = {Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction},
  url          = {http://dx.doi.org/10.1016/j.ophtha.2012.12.005},
  volume       = {120},
  year         = {2013},
}

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