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5. 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]
6. 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]
7. 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]
10. 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]
11. [Molecular genetics advances of congenital idiopathic nystagmus]. Wang XJ; Zhao KX Zhonghua Yan Ke Za Zhi; 2011 Nov; 47(11):1038-42. PubMed ID: 22336070 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Identification and functional characterization of a novel missense mutation in FRMD7 responsible for idiopathic congenital nystagmus. Wang Z; Wang M; Wang C; Lu B Acta Biochim Biophys Sin (Shanghai); 2019 Feb; 51(2):178-184. PubMed ID: 30576400 [TBL] [Abstract][Full Text] [Related]
15. Identification of a novel idiopathic congenital nystagmus‑causing missense mutation, p.G296C, in the FRMD7 gene. Xiu Y; Yao Y; Yang T; Pan M; Yang H; Fang W; Gu F; Zhao J; Zhu Y Mol Med Rep; 2018 Sep; 18(3):2816-2822. PubMed ID: 30015830 [TBL] [Abstract][Full Text] [Related]
16. Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus. Radhakrishna U; Ratnamala U; Deutsch S; Bartoloni L; Kuracha MR; Singh R; Banwait J; Bastola DK; Johar K; Nath SK; Antonarakis SE Eur J Hum Genet; 2012 Oct; 20(10):1032-6. PubMed ID: 22490987 [TBL] [Abstract][Full Text] [Related]
17. Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus. Zhang B; Liu Z; Zhao G; Xie X; Yin X; Hu Z; Xu S; Li Q; Song F; Tian J; Luo W; Ding M; Yin J; Xia K; Xia J Mol Vis; 2007 Sep; 13():1674-9. PubMed ID: 17893669 [TBL] [Abstract][Full Text] [Related]
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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. 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] [Next] [New Search]