These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

508 related articles for article (PubMed ID: 25124931)

  • 1. Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
    Robitaille JM; Gillett RM; LeBlanc MA; Gaston D; Nightingale M; Mackley MP; Parkash S; Hathaway J; Thomas A; Ells A; Traboulsi EI; Héon E; Roy M; Shalev S; Fernandez CV; MacGillivray C; Wallace K; Fahiminiya S; Majewski J; McMaster CR; Bedard K
    JAMA Ophthalmol; 2014 Dec; 132(12):1393-9. PubMed ID: 25124931
    [TBL] [Abstract][Full Text] [Related]  

  • 2. KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.
    Hu H; Xiao X; Li S; Jia X; Guo X; Zhang Q
    Br J Ophthalmol; 2016 Feb; 100(2):278-83. PubMed ID: 26472404
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
    Mirzaa GM; Enyedi L; Parsons G; Collins S; Medne L; Adams C; Ward T; Davitt B; Bicknese A; Zackai E; Toriello H; Dobyns WB; Christian S
    Am J Med Genet A; 2014 Nov; 164A(11):2879-86. PubMed ID: 25115524
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel variants in familial exudative vitreoretinopathy patients with KIF11 mutations and the Genotype-Phenotype correlation.
    Chen C; Sun L; Li S; Huang L; Zhang T; Wang Z; Yu B; Luo X; Ding X
    Exp Eye Res; 2020 Oct; 199():108165. PubMed ID: 32730767
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis.
    Li JK; Fei P; Li Y; Huang QJ; Zhang Q; Zhang X; Rao YQ; Li J; Zhao P
    Sci Rep; 2016 May; 6():26564. PubMed ID: 27212378
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
    Ostergaard P; Simpson MA; Mendola A; Vasudevan P; Connell FC; van Impel A; Moore AT; Loeys BL; Ghalamkarpour A; Onoufriadis A; Martinez-Corral I; Devery S; Leroy JG; van Laer L; Singer A; Bialer MG; McEntagart M; Quarrell O; Brice G; Trembath RC; Schulte-Merker S; Makinen T; Vikkula M; Mortimer PS; Mansour S; Jeffery S
    Am J Hum Genet; 2012 Feb; 90(2):356-62. PubMed ID: 22284827
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11.
    Mears K; Bakall B; Harney LA; Penticoff JA; Stone EM
    JAMA Ophthalmol; 2015 Jun; 133(6):720-1. PubMed ID: 25764055
    [No Abstract]   [Full Text] [Related]  

  • 8. Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.
    Balikova I; Robson AG; Holder GE; Ostergaard P; Mansour S; Moore AT
    Acta Ophthalmol; 2016 Feb; 94(1):92-8. PubMed ID: 25996076
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
    Shurygina MF; Simonett JM; Parker MA; Mitchell A; Grigorian F; Lifton J; Nagiel A; Shpak AA; Dadali EL; Mishina IA; Weleber RG; Yang P; Pennesi ME
    Invest Ophthalmol Vis Sci; 2020 Nov; 61(13):2. PubMed ID: 33137195
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.
    Trang DT; Phu NM; Hung DM; Nhung VP; Ha NN; Thuong MTH; Ngoc TTB; Hiep NX; Ton ND; Hai NV; Ha NH
    Mol Vis; 2022; 28():480-491. PubMed ID: 37089697
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.
    Hazan F; Ostergaard P; Ozturk T; Kantekin E; Atlihan F; Jeffery S; Ozkinay F
    Am J Med Genet A; 2012 Jul; 158A(7):1686-9. PubMed ID: 22653704
    [TBL] [Abstract][Full Text] [Related]  

  • 12. No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
    Schlögel MJ; Mendola A; Fastré E; Vasudevan P; Devriendt K; de Ravel TJ; Van Esch H; Casteels I; Arroyo Carrera I; Cristofoli F; Fieggen K; Jones K; Lipson M; Balikova I; Singer A; Soller M; Mercedes Villanueva M; Revencu N; Boon LM; Brouillard P; Vikkula M
    Orphanet J Rare Dis; 2015 May; 10():52. PubMed ID: 25934493
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.
    Hull S; Arno G; Ostergaard P; Pontikos N; Robson AG; Webster AR; Hogg CR; Wright GA; Henderson RHH; Martin CA; Jackson AP; Mansour S; Moore AT; Michaelides M
    Am J Ophthalmol; 2019 Nov; 207():87-98. PubMed ID: 31077665
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Update on the Phenotypic and Genotypic Spectrum of
    Wang Y; Zhang Z; Huang L; Sun L; Li S; Zhang T; Ding X
    Genes (Basel); 2022 Apr; 13(4):. PubMed ID: 35456519
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Retinal Features of Family Members With Familial Exudative Vitreoretinopathy Caused By Mutations in KIF11 Gene.
    Kondo H; Matsushita I; Nagata T; Fujihara E; Hosono K; Uchio E; Hotta Y; Kusaka S
    Transl Vis Sci Technol; 2021 Jun; 10(7):18. PubMed ID: 34128965
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.
    Silva NÁ; Silva RES; Magalhães AA
    BMC Ophthalmol; 2024 Aug; 24(1):372. PubMed ID: 39187757
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.
    Birtel J; Gliem M; Mangold E; Tebbe L; Spier I; Müller PL; Holz FG; Neuhaus C; Wolfrum U; Bolz HJ; Charbel Issa P
    Invest Ophthalmol Vis Sci; 2017 Aug; 58(10):3950-3959. PubMed ID: 28785766
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.
    Rao FQ; Cai XB; Cheng FF; Cheng W; Fang XL; Li N; Huang XF; Li LH; Jin ZB
    Invest Ophthalmol Vis Sci; 2017 May; 58(5):2623-2629. PubMed ID: 28494495
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of a novel mutation in
    Wang K; Zhang X; Tian T; Zhao P
    Mol Vis; 2021; 27():528-541. PubMed ID: 34526760
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].
    Hatt Brupbacher SC; Job O; Senn P; Dedes W
    Klin Monbl Augenheilkd; 2009 Apr; 226(4):344-6. PubMed ID: 19384796
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 26.