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234 related items for PubMed ID: 19013876

  • 1. 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; 41(3):98-102. PubMed ID: 19013876
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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 15; 43(1):14-8. PubMed ID: 20552815
    [Abstract] [Full Text] [Related]

  • 4. 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 15; 47 Suppl 1():52-5. PubMed ID: 18986489
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 42(4):152-60. PubMed ID: 20218083
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. 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]

  • 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 Aug 25; 34(3):e88-e90. PubMed ID: 29406328
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. 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]

  • 13. FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate.
    Bahuau M, Houdayer C, Tredano M, Soupre V, Couderc R, Vazquez MP.
    Clin Genet; 2002 Dec 20; 62(6):470-3. PubMed ID: 12485195
    [Abstract] [Full Text] [Related]

  • 14. Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations.
    Missaglia S, Tavian D, Michelini S, Maltese PE, Bonanomi A, Bertelli M.
    Genes (Basel); 2021 Apr 27; 12(5):. PubMed ID: 33925370
    [Abstract] [Full Text] [Related]

  • 15. 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 27; 134(4):592-6. PubMed ID: 12383817
    [Abstract] [Full Text] [Related]

  • 16. A family with lymphoedema-distichiasis where identical twins have a discordant phenotype.
    Kumar S, Carver C, McCall S, Brice G, Ostergaard P, Mortimer P, Jeffery S, Lymphoedema Consortium.
    Clin Genet; 2007 Mar 27; 71(3):285-7. PubMed ID: 17309653
    [No Abstract] [Full Text] [Related]

  • 17. Microdeletion of 16q24.1-q24.2-A unique etiology of Lymphedema-Distichiasis syndrome and neurodevelopmental disorder.
    Michelson M, Lidzbarsky G, Nishri D, Israel-Elgali I, Berger R, Gafner M, Shomron N, Lev D, Goldberg Y.
    Am J Med Genet A; 2022 Jul 27; 188(7):1990-1996. PubMed ID: 35312147
    [Abstract] [Full Text] [Related]

  • 18. c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient.
    Tanpaiboon P, Kantaputra P, Wejathikul K, Piyamongkol W.
    Am J Med Genet A; 2010 Mar 27; 152A(3):737-40. PubMed ID: 20186799
    [Abstract] [Full Text] [Related]

  • 19. Comparative lymphatic, ocular, and metabolic phenotypes of Foxc2 haploinsufficient and aP2-FOXC2 transgenic mice.
    Noon A, Hunter RJ, Witte MH, Kriederman B, Bernas M, Rennels M, Percy D, Enerbäck S, Erickson RP.
    Lymphology; 2006 Jun 27; 39(2):84-94. PubMed ID: 16910099
    [Abstract] [Full Text] [Related]

  • 20. A novel complex insertion-deletion mutation in the FOXC2 gene in a Japanese patient with lymphedema-distichiasis syndrome.
    Itoh M, Nakagawa H.
    Eur J Dermatol; 2013 Jun 27; 23(3):411-3. PubMed ID: 23747797
    [No Abstract] [Full Text] [Related]

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