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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1954 | 1 |
2000 | 1 |
2003 | 1 |
2005 | 1 |
2007 | 1 |
2008 | 1 |
2009 | 2 |
2024 | 0 |
PubMed (OMIM) for id: 167691
7 results
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Page 1
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002.
Am J Hum Genet. 2009.
PMID: 19800048
Free PMC article.
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.
van Wijk E, Kersten FF, Kartono A, Mans DA, Brandwijk K, Letteboer SJ, Peters TA, Märker T, Yan X, Cremers CW, Cremers FP, Wolfrum U, Roepman R, Kremer H.
van Wijk E, et al.
Hum Mol Genet. 2009 Jan 1;18(1):51-64. doi: 10.1093/hmg/ddn312. Epub 2008 Sep 30.
Hum Mol Genet. 2009.
PMID: 18826961
Free PMC article.
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Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R.
den Hollander AI, et al.
Nat Genet. 2007 Jul;39(7):889-95. doi: 10.1038/ng2066. Epub 2007 Jun 3.
Nat Genet. 2007.
PMID: 17546029
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Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R.
Zernant J, et al.
Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3052-9. doi: 10.1167/iovs.05-0111.
Invest Ophthalmol Vis Sci. 2005.
PMID: 16123401
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[Diagnostic and prognostic importance of the electroretinogram in tapetoretinal degeneration with reduction of the visual field and hemeralopia].
FRANCESCHETTI A, DIETERLE P.
FRANCESCHETTI A, et al.
Confin Neurol. 1954;14(2-3):184-6.
Confin Neurol. 1954.
PMID: 13190865
French.
No abstract available.
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Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.
Mohamed MD, Topping NC, Jafri H, Raashed Y, McKibbin MA, Inglehearn CF.
Mohamed MD, et al.
Br J Ophthalmol. 2003 Apr;87(4):473-5. doi: 10.1136/bjo.87.4.473.
Br J Ophthalmol. 2003.
PMID: 12642313
Free PMC article.
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A novel locus for Leber congenital amaurosis maps to chromosome 6q.
Dharmaraj S, Li Y, Robitaille JM, Silva E, Zhu D, Mitchell TN, Maltby LP, Baffoe-Bonnie AB, Maumenee IH.
Dharmaraj S, et al.
Am J Hum Genet. 2000 Jan;66(1):319-26. doi: 10.1086/302719.
Am J Hum Genet. 2000.
PMID: 10631161
Free PMC article.
No abstract available.
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