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Journal Abstract Search

163 related items for PubMed ID: 22349027

  • 1. Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome.
    Sutkowska E, Gil J, Stembalska A, Hill-Bator A, Szuba A.
    Gene; 2012 Apr 25; 498(1):96-9. PubMed ID: 22349027
    [Abstract] [Full Text] [Related]

  • 2. A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.
    Zhu LL, Lv YN, Chen HD, Gao XH.
    Clin Exp Dermatol; 2014 Aug 25; 39(6):731-3. PubMed ID: 24984567
    [Abstract] [Full Text] [Related]

  • 3. Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review.
    Dellinger MT, Thome K, Bernas MJ, Erickson RP, Witte MH.
    Lymphology; 2008 Sep 25; 41(3):98-102. PubMed ID: 19013876
    [Abstract] [Full Text] [Related]

  • 4. A novel missense mutation and two microrearrangements in the FOXC2 gene of three families with lymphedema-distichiasis syndrome.
    Fauret AL, Tuleja E, Jeunemaitre X, Vignes S.
    Lymphology; 2010 Mar 25; 43(1):14-8. PubMed ID: 20552815
    [Abstract] [Full Text] [Related]

  • 5. Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene.
    Vreeburg M, Heitink MV, Damstra RJ, Moog U, van Geel M, van Steensel MA.
    Int J Dermatol; 2008 Nov 25; 47 Suppl 1():52-5. PubMed ID: 18986489
    [Abstract] [Full Text] [Related]

  • 6. A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.
    Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P.
    Ophthalmic Genet; 2010 Jun 25; 31(2):98-100. PubMed ID: 20450314
    [Abstract] [Full Text] [Related]

  • 7. Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.
    Rezaie T, Ghoroghchian R, Bell R, Brice G, Hasan A, Burnand K, Vernon S, Mansour S, Mortimer P, Jeffery S, Child A, Sarfarazi M.
    Eur J Hum Genet; 2008 Mar 25; 16(3):300-4. PubMed ID: 18197197
    [Abstract] [Full Text] [Related]

  • 8. Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2.
    Witte MH, Erickson RP, Khalil M, Dellinger M, Bernas M, Grogan T, Nitta H, Feng J, Duggan D, Witte CL.
    Lymphology; 2009 Dec 25; 42(4):152-60. PubMed ID: 20218083
    [Abstract] [Full Text] [Related]

  • 9. Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome.
    De Niear MA, Breazzano MP, Mawn LA.
    Ophthalmic Plast Reconstr Surg; 2018 Dec 25; 34(3):e88-e90. PubMed ID: 29406328
    [Abstract] [Full Text] [Related]

  • 10. The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis.
    Berry FB, Tamimi Y, Carle MV, Lehmann OJ, Walter MA.
    Hum Mol Genet; 2005 Sep 15; 14(18):2619-27. PubMed ID: 16081467
    [Abstract] [Full Text] [Related]

  • 11. Lymphedema-distichiasis syndrome and FOXC2 gene mutation.
    Traboulsi EI, Al-Khayer K, Matsumoto M, Kimak MA, Crowe S, Wilson SE, Finegold DN, Ferrell RE, Meisler DM.
    Am J Ophthalmol; 2002 Oct 15; 134(4):592-6. PubMed ID: 12383817
    [Abstract] [Full Text] [Related]

  • 12. FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.
    Tavian D, Missaglia S, Maltese PE, Michelini S, Fiorentino A, Ricci M, Serrani R, Walter MA, Bertelli M.
    Oncotarget; 2016 Aug 23; 7(34):54228-54239. PubMed ID: 27276711
    [Abstract] [Full Text] [Related]

  • 13. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.
    Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF, Sarfarazi M, Burnand KG, Jeffery S, Mortimer P, Murday VA.
    J Med Genet; 2002 Jul 23; 39(7):478-83. PubMed ID: 12114478
    [Abstract] [Full Text] [Related]

  • 14. Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.
    Erickson RP, Dagenais SL, Caulder MS, Downs CA, Herman G, Jones MC, Kerstjens-Frederikse WS, Lidral AC, McDonald M, Nelson CC, Witte M, Glover TW.
    J Med Genet; 2001 Nov 23; 38(11):761-6. PubMed ID: 11694548
    [Abstract] [Full Text] [Related]

  • 15. Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation.
    Zhang L, He J, Han B, Lu L, Fan J, Zhang H, Ge S, Zhou Y, Jia R, Fan X.
    Int J Biol Sci; 2016 Nov 23; 12(9):1114-20. PubMed ID: 27570485
    [Abstract] [Full Text] [Related]

  • 16. FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation.
    Tavian D, Missaglia S, Michelini S, Maltese PE, Manara E, Mordente A, Bertelli M.
    Int J Mol Sci; 2020 Jul 20; 21(14):. PubMed ID: 32698337
    [Abstract] [Full Text] [Related]

  • 17. [Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome].
    Liu Y, Ding J, Peng Y, Liang Z, Yan N, Jin X, Fang F, Weng X, Pan Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr 10; 37(4):434-437. PubMed ID: 32219830
    [Abstract] [Full Text] [Related]

  • 18. Lymphedema distichiasis syndrome may be caused by FOXC2 promoter-enhancer dissociation and disruption of a topological associated domain.
    Wallis M, Pope-Couston R, Mansour J, Amor DJ, Tang P, Stock-Myer S.
    Am J Med Genet A; 2021 Jan 10; 185(1):150-156. PubMed ID: 33107170
    [Abstract] [Full Text] [Related]

  • 19. Mutation of the FOXC2 gene in familial distichiasis.
    Brooks BP, Dagenais SL, Nelson CC, Glynn MW, Caulder MS, Downs CA, Glover TW.
    J AAPOS; 2003 Oct 10; 7(5):354-7. PubMed ID: 14566319
    [Abstract] [Full Text] [Related]

  • 20. Renal anomalies and lymphedema distichiasis syndrome. A rare association?
    Jones GE, Richmond AK, Navti O, Mousa HA, Abbs S, Thompson E, Mansour S, Vasudevan PC.
    Am J Med Genet A; 2017 Aug 10; 173(8):2251-2256. PubMed ID: 28544699
    [Abstract] [Full Text] [Related]

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