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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2007 | 2 |
2009 | 1 |
2013 | 1 |
2015 | 1 |
2016 | 1 |
2024 | 0 |
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Page 1
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9485.
Hum Mutat. 2007.
PMID: 17345604
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X, Wang H, Sun V, Tuan HF, Keser V, Wang K, Ren H, Lopez I, Zaneveld JE, Siddiqui S, Bowles S, Khan A, Salvo J, Jacobson SG, Iannaccone A, Wang F, Birch D, Heckenlively JR, Fishman GA, Traboulsi EI, Li Y, Wheaton D, Koenekoop RK, Chen R.
Wang X, et al.
J Med Genet. 2013 Oct;50(10):674-88. doi: 10.1136/jmedgenet-2013-101558. Epub 2013 Jul 11.
J Med Genet. 2013.
PMID: 23847139
Free PMC article.
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Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Astuti GD, Bertelsen M, Preising MN, Ajmal M, Lorenz B, Faradz SM, Qamar R, Collin RW, Rosenberg T, Cremers FP.
Astuti GD, et al.
Eur J Hum Genet. 2016 Jul;24(7):1071-9. doi: 10.1038/ejhg.2015.241. Epub 2015 Dec 2.
Eur J Hum Genet. 2016.
PMID: 26626312
Free PMC article.
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Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J, Salonen R, Kohlschmidt N, Peltonen L, Kestilä M.
Tallila J, et al.
Hum Mutat. 2009 Aug;30(8):E813-30. doi: 10.1002/humu.21057.
Hum Mutat. 2009.
PMID: 19466712
Free PMC article.
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Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrère AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Génin E, Johnson CA, Vekemans M, Encha-Razavi F, Attié-Bitach T.
Baala L, et al.
Am J Hum Genet. 2007 Jul;81(1):170-9. doi: 10.1086/519494. Epub 2007 Jun 4.
Am J Hum Genet. 2007.
PMID: 17564974
Free PMC article.
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