484 related articles for article (PubMed ID: 18087240)
1. X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.
Shiels A; Bennett TM; Prince JB; Tychsen L
Mol Vis; 2007 Nov; 13():2233-41. PubMed ID: 18087240
[TBL] [Abstract][Full Text] [Related]
2. Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.
Kaplan Y; Vargel I; Kansu T; Akin B; Rohmann E; Kamaci S; Uz E; Ozcelik T; Wollnik B; Akarsu NA
Br J Ophthalmol; 2008 Jan; 92(1):135-41. PubMed ID: 17962394
[TBL] [Abstract][Full Text] [Related]
3. Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.
Thomas S; Proudlock FA; Sarvananthan N; Roberts EO; Awan M; McLean R; Surendran M; Kumar AS; Farooq SJ; Degg C; Gale RP; Reinecke RD; Woodruff G; Langmann A; Lindner S; Jain S; Tarpey P; Raymond FL; Gottlob I
Brain; 2008 May; 131(Pt 5):1259-67. PubMed ID: 18372314
[TBL] [Abstract][Full Text] [Related]
4. Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.
Fingert JH; Roos B; Eyestone ME; Pham JD; Mellot ML; Stone E
Ophthalmic Genet; 2010 Jun; 31(2):77-80. PubMed ID: 20450309
[TBL] [Abstract][Full Text] [Related]
5. A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
Ma X; Li FF; Wang SZ; Gao C; Zhang M; Zhu SQ
Mol Vis; 2008; 14():1906-11. PubMed ID: 18958306
[TBL] [Abstract][Full Text] [Related]
6. A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.
Bennett TM; Mackay DS; Knopf HL; Shiels A
Mol Vis; 2004 Jun; 10():376-82. PubMed ID: 15208569
[TBL] [Abstract][Full Text] [Related]
7. Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
AlMoallem B; Bauwens M; Walraedt S; Delbeke P; De Zaeytijd J; Kestelyn P; Meire F; Janssens S; van Cauwenbergh C; Verdin H; Hooghe S; Kumar Thakur P; Coppieters F; De Leeneer K; Devriendt K; Leroy BP; De Baere E
Invest Ophthalmol Vis Sci; 2015 Feb; 56(3):1701-10. PubMed ID: 25678693
[TBL] [Abstract][Full Text] [Related]
8. Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.
Schorderet DF; Tiab L; Gaillard MC; Lorenz B; Klainguti G; Kerrison JB; Traboulsi EI; Munier FL
Hum Mutat; 2007 May; 28(5):525. PubMed ID: 17397053
[TBL] [Abstract][Full Text] [Related]
9. Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.
Li N; Wang L; Cui L; Zhang L; Dai S; Li H; Chen X; Zhu L; Hejtmancik JF; Zhao K
Mol Vis; 2008 Apr; 14():733-8. PubMed ID: 18431453
[TBL] [Abstract][Full Text] [Related]
10. Clinical and oculomotor characteristics of albinism compared to FRMD7 associated infantile nystagmus.
Kumar A; Gottlob I; McLean RJ; Thomas S; Thomas MG; Proudlock FA
Invest Ophthalmol Vis Sci; 2011 Apr; 52(5):2306-13. PubMed ID: 21220551
[TBL] [Abstract][Full Text] [Related]
11. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
12. Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus.
Li N; Wang X; Wang Y; Wang L; Ying M; Han R; Liu Y; Zhao K
Mol Vis; 2011 Feb; 17():461-8. PubMed ID: 21365021
[TBL] [Abstract][Full Text] [Related]
13. A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family.
Gupta S; Pathak E; Chaudhry VN; Chaudhry P; Mishra R; Chandra A; Mukherjee A; Mutsuddi M
Neurosci Lett; 2015 Jun; 597():170-5. PubMed ID: 25916882
[TBL] [Abstract][Full Text] [Related]
14. Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.
Ramprasad VL; Thool A; Murugan S; Nancarrow D; Vyas P; Rao SK; Vidhya A; Ravishankar K; Kumaramanickavel G
Invest Ophthalmol Vis Sci; 2005 Jan; 46(1):17-23. PubMed ID: 15623749
[TBL] [Abstract][Full Text] [Related]
15. A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q.
Mackay DS; Andley UP; Shiels A
Mol Vis; 2004 Mar; 10():155-62. PubMed ID: 15041957
[TBL] [Abstract][Full Text] [Related]
16. A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family.
Liu Z; Mao S; Pu J; Ding Y; Zhang B; Ding M
Mol Vis; 2013; 19():1834-40. PubMed ID: 23946638
[TBL] [Abstract][Full Text] [Related]
17. A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.
He X; Gu F; Wang Z; Wang C; Tong Y; Wang Y; Yang J; Liu W; Zhang M; Ma X
Genet Test; 2008 Dec; 12(4):607-13. PubMed ID: 19072571
[TBL] [Abstract][Full Text] [Related]
18. A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus.
Choi JH; Shin JH; Seo JH; Jung JH; Choi KD
Sci Rep; 2015 Aug; 5():13003. PubMed ID: 26268155
[TBL] [Abstract][Full Text] [Related]
19. Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.
Choi JH; Jung JH; Oh EH; Shin JH; Kim HS; Seo JH; Choi SY; Kim MJ; Choi HY; Lee C; Choi KD
Invest Ophthalmol Vis Sci; 2018 Jun; 59(7):3181-3188. PubMed ID: 30025138
[TBL] [Abstract][Full Text] [Related]
20. Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.
Mackay DS; Andley UP; Shiels A
Eur J Hum Genet; 2003 Oct; 11(10):784-93. PubMed ID: 14512969
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]