Literature DB >> 17347810

Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation.

Panfeng Wang, Xiangming Guo, Qingjiong Zhang.   

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Year:  2007        PMID： 17347810     DOI： 10.1007/s00417-007-0554-0

Source DB:  PubMed          Journal:  Graefes Arch Clin Exp Ophthalmol        ISSN： 0721-832X            Impact factor:   3.117


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  9 in total

1.  Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.

Authors:  I Perrault; S Hanein; S Gerber; F Barbet; J-L Dufier; A Munnich; J-M Rozet; J Kaplan
Journal:  J Med Genet       Date:  2003-07       Impact factor: 6.318

2.  Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene.

Authors:  R T Tzekov; Y Liu; M M Sohocki; D J Zack; S P Daiger; J R Heckenlively; D G Birch
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-05       Impact factor: 4.799

3.  De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis.

Authors:  C L Freund; Q L Wang; S Chen; B L Muskat; C D Wiles; V C Sheffield; S G Jacobson; R R McInnes; D J Zack; E M Stone
Journal:  Nat Genet       Date:  1998-04       Impact factor: 38.330

4.  Novel frameshift mutations in CRX associated with Leber congenital amaurosis.

Authors:  C Rivolta; N E Peck; A B Fulton; G A Fishman; E L Berson; T P Dryja
Journal:  Hum Mutat       Date:  2001-12       Impact factor: 4.878

5.  A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype.

Authors:  E Silva; J M Yang; Y Li; S Dharmaraj; O H Sundin; I H Maumenee
Journal:  Invest Ophthalmol Vis Sci       Date:  2000-07       Impact factor: 4.799

6.  Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.

Authors:  Sara J Bowne; Lori S Sullivan; Sarah E Mortimer; Lizbeth Hedstrom; Jingya Zhu; Catherine J Spellicy; Anisa I Gire; Dianna Hughbanks-Wheaton; David G Birch; Richard A Lewis; John R Heckenlively; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2006-01       Impact factor: 4.799

7.  Mutation analysis of 3 genes in patients with Leber congenital amaurosis.

Authors:  A J Lotery; P Namperumalsamy; S G Jacobson; R G Weleber; G A Fishman; M A Musarella; C S Hoyt; E Héon; A Levin; J Jan; B Lam; R E Carr; A Franklin; S Radha; J L Andorf; V C Sheffield; E M Stone
Journal:  Arch Ophthalmol       Date:  2000-04

8.  A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

Authors:  M M Sohocki; L S Sullivan; H A Mintz-Hittner; D Birch; J R Heckenlively; C L Freund; R R McInnes; S P Daiger
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

9.  Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis.

Authors:  Makoto Nakamura; Sei Ito; Yozo Miyake
Journal:  Am J Ophthalmol       Date:  2002-09       Impact factor: 5.258
  9 in total
  5 in total

1.  Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

Authors:  Lin Li; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Panfeng Wang; Xiangming Guo; Xiaodong Jiao; Qingjiong Zhang; J Fielding Hejtmancik
Journal:  PLoS One       Date:  2011-05-13       Impact factor: 3.240

Review 2.  Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies.

Authors:  Nicholas M Tran; Shiming Chen
Journal:  Dev Dyn       Date:  2014-06-27       Impact factor: 3.780

3.  Differential proteomics and functional research following gene therapy in a mouse model of Leber congenital amaurosis.

Authors:  Qinxiang Zheng; Yueping Ren; Radouil Tzekov; Yuanping Zhang; Bo Chen; Jiangping Hou; Chunhui Zhao; Jiali Zhu; Ying Zhang; Xufeng Dai; Shan Ma; Jia Li; Jijing Pang; Jia Qu; Wensheng Li
Journal:  PLoS One       Date:  2012-08-31       Impact factor: 3.240

4.  Mechanistically distinct mouse models for CRX-associated retinopathy.

Authors:  Nicholas M Tran; Alan Zhang; Xiaodong Zhang; Julie B Huecker; Anne K Hennig; Shiming Chen
Journal:  PLoS Genet       Date:  2014-02-06       Impact factor: 5.917

5.  CrxRdy Cat: A Large Animal Model for CRX-Associated Leber Congenital Amaurosis.

Authors:  Laurence M Occelli; Nicholas M Tran; Kristina Narfström; Shiming Chen; Simon M Petersen-Jones
Journal:  Invest Ophthalmol Vis Sci       Date:  2016-07-01       Impact factor: 4.799
  5 in total

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