| 1 |
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. ( 29400301
)
|
Zhao HJ...Jiang W
|
2018 |
| 2 |
Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy. ( 27067258
)
|
Chen X...Zhao C
|
2016 |
| 3 |
Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population. ( 24144451
)
|
Corton M...Ayuso C
|
2014 |
| 4 |
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. ( 23946133
)
|
Mackay DS...Wissinger B
|
2013 |
| 5 |
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. ( 21850168
)
|
Ahmad A...Bolz HJ
|
2011 |
| 6 |
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA). ( 20108395
)
|
Vallespin E...Ayuso C
|
2010 |
| 7 |
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis. ( 21488265
)
|
Vallespin E...Ayuso C
|
2010 |
| 8 |
LCA5, a rare genetic cause of leber congenital amaurosis in Koreans. ( 19172513
)
|
Seong MW...Park SS
|
2009 |
| 9 |
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. ( 19503738
)
|
Jacobson SG...Stone EM
|
2009 |
| 10 |
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. ( 19800048
)
|
Coene KL...de Brouwer AP
|
2009 |
| 11 |
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis. ( 18334959
)
|
Ramprasad VL...Kumaramanickavel G
|
2008 |
| 12 |
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. ( 17546029
)
|
den Hollander AI...Roepman R
|
2007 |
| 13 |
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. ( 18000884
)
|
Gerber S...Rozet JM
|
2007 |
| 14 |
Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. ( 16082399
)
|
Ozg?l RK...O??? A
|
2006 |
| 15 |
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. ( 16123401
)
|
Zernant J...Allikmets R
|
2005 |
| 16 |
Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. ( 12642313
)
|
Mohamed MD...Inglehearn CF
|
2003 |
| 17 |
A novel locus for Leber congenital amaurosis maps to chromosome 6q. ( 10631161
)
|
Dharmaraj S...Maumenee IH
|
2000 |
