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Journal Abstract Search

163 related items for PubMed ID: 12383817

  • 21. 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
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  • 25. 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; 188(7):1990-1996. PubMed ID: 35312147
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  • 28. 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; 152A(3):737-40. PubMed ID: 20186799
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  • 29. [Genetic analysis and clinical phenotype of a family with lymphedema-distichiasis syndrome].
    Hu G, Liu B, Chen M, Qian Y, Dong M.
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2020 Oct 25; 49(5):581-585. PubMed ID: 33210483
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  • 30. Lymphedema-distichiasis and FOXC2 gene mutations.
    Erickson RP.
    Lymphology; 2001 Mar 25; 34(1):1. PubMed ID: 11307659
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  • 33. 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
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  • 36. Phenotypic characterization of primary lymphedema.
    Connell F, Brice G, Mortimer P.
    Ann N Y Acad Sci; 2008 Apr 27; 1131():140-6. PubMed ID: 18519967
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  • 37. Genetic landscape of FOXC2 mutations in lymphedema-distichiasis syndrome: Different mechanism of pathogenicity for mutations in different domains.
    Jiang L, Ren W, Xie C, Duan S, Dai C, Wei Y, Luo D, Wang T, Gong B, Liu X, Yang Z, Ye Z, Chen H, Shi Y.
    Exp Eye Res; 2022 Sep 27; 222():109136. PubMed ID: 35716761
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  • 38. Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression.
    de Bruyn G, Casaer A, Devolder K, Van Acker G, Logghe H, Devriendt K, Cornette L.
    Eur J Pediatr; 2012 Mar 27; 171(3):447-50. PubMed ID: 21918810
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  • 39. 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 Mar 27; 23(3):411-3. PubMed ID: 23747797
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  • 40. Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.
    Bell R, Brice G, Child AH, Murday VA, Mansour S, Sandy CJ, Collin JR, Brady AF, Callen DF, Burnand K, Mortimer P, Jeffery S.
    Hum Genet; 2001 Jun 27; 108(6):546-51. PubMed ID: 11499682
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