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178 related items for PubMed ID: 20218083
1. 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; 42(4):152-60. PubMed ID: 20218083 [Abstract] [Full Text] [Related]
2. 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; 47 Suppl 1():52-5. PubMed ID: 18986489 [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; 43(1):14-8. PubMed ID: 20552815 [Abstract] [Full Text] [Related]
5. 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; 31(2):98-100. PubMed ID: 20450314 [Abstract] [Full Text] [Related]
6. 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]
7. Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome. De Niear MA, Breazzano MP, Mawn LA. Ophthalmic Plast Reconstr Surg; 2018 Sep 15; 34(3):e88-e90. PubMed ID: 29406328 [Abstract] [Full Text] [Related]
8. 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 15; 39(7):478-83. PubMed ID: 12114478 [Abstract] [Full Text] [Related]
9. 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]
10. 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 25; 39(2):84-94. PubMed ID: 16910099 [Abstract] [Full Text] [Related]
11. 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]
12. 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 25; 134(4):592-6. PubMed ID: 12383817 [Abstract] [Full Text] [Related]
13. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Fang J, Dagenais SL, Erickson RP, Arlt MF, Glynn MW, Gorski JL, Seaver LH, Glover TW. Am J Hum Genet; 2000 Dec 25; 67(6):1382-8. PubMed ID: 11078474 [Abstract] [Full Text] [Related]
14. 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]
15. FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome. Kriederman BM, Myloyde TL, Witte MH, Dagenais SL, Witte CL, Rennels M, Bernas MJ, Lynch MT, Erickson RP, Caulder MS, Miura N, Jackson D, Brooks BP, Glover TW. Hum Mol Genet; 2003 May 15; 12(10):1179-85. PubMed ID: 12719382 [Abstract] [Full Text] [Related]
16. Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. Butler MG, Dagenais SL, Garcia-Perez JL, Brouillard P, Vikkula M, Strouse P, Innis JW, Glover TW. Am J Med Genet A; 2012 Apr 15; 158A(4):839-49. PubMed ID: 22407726 [Abstract] [Full Text] [Related]
18. 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 15; 71(3):285-7. PubMed ID: 17309653 [No Abstract] [Full Text] [Related]
19. 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 15; 185(1):150-156. PubMed ID: 33107170 [Abstract] [Full Text] [Related]
20. Evaluation of FOXC2 as a candidate gene for chronic progressive lymphedema in draft horses. Young AE, Bower LP, Affolter VK, De Cock HE, Ferraro GL, Bannasch DL. Vet J; 2007 Sep 15; 174(2):397-9. PubMed ID: 16884936 [Abstract] [Full Text] [Related] Page: [Next] [New Search]