| 1 | FOXC2, LPDD
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| Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome.
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| Sutkowska E, Gil J, Stembalska A, Hill-Bator A, Szuba A.
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| Gene 498(1):96-9. doi: 10.1016/j.gene.2012.01.098. Epub 2012 Feb 14. Erratum in: Gene. 2012 Aug 10;504(2):317.
2012
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| 2 | FOXC2, LPDD, YNS
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| Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.
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| Sholto-Douglas-Vernon C, Bell R, Brice G, Mansour S, Sarfarazi M, Child AH, Smith A, Mellor R, Burnand K, Mortimer P, Jeffery S.
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| Hum Genet 117(2-3):238-242. Epub 2005 May 20. 2005
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| 3 | FOXC2, LPDD,FOXC1, FOXE1, FOXE3, FOXL2, FOXN1, FOXP2, FOXP3, YNS
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| 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.
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| Berry FB, Tamimi Y, Carle MV, Lehmann OJ, Walter MA.
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| Hum Mol Genet 14(18):2619-27. Epub 2005 Aug 4. 2005
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| 4 | LPDD, FOXC2, YNS
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| A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus.
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| Yildirim-Toruner C, Subramanian K, El Manjra L, Chen E, Goldstein S, Vitale E.
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| Am J Med Genet 131A(3):281-6. 2004
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| 5 | FOXC2, LPDD
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| FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome.
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| 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.
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| Hum Mol Genet 12(10):1179-85. 2003
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| 6 | FOXC2, LPDD
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| Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.
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| Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF, Sarfarazi M, Burnand KG, Jeffery S, Mortimer P, Murday VA.
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| J Med Genet 39(7):478-83. 2002
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| 7 | FOXC2, LPDD
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| FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate.
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| Bahuau M, Houdayer C, Tredano M, Soupre V, Couderc R, Vazquez MP.
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| Clin Genet 62(6):470-3. 2002
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| 8 | FOXC2, LPDD
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| Lymphedema-distichiasis syndrome and FOXC2 gene mutation.
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| Traboulsi EI, Al-Khayer K, Matsumoto M, Kimak MA, Crowe S, Wilson SE, Finegold DN, Ferrell RE, Meisler DM.
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| Am J Ophthalmol 134(4):592-6. 2002
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| 9 | FOXC2, LPDD
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| Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.
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| Bell R, Brice G, Child AH, Murday VA, Mansour S, Sandy CJ, Collin JR, Brady AF, Callen DF, Burnand K, Mortimer P, Jeffery S.
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| Hum Genet 108(6):546-51. 2001
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| 10 | FOXC1, FOXC2, LPDD, YNS
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| Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
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| Finegold DN, Kimak MA, Lawrence EC, Levinson KL, Cherniske EM, Pober BR, Dunlap JW, Ferrell RE.
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| Hum Mol Genet 10(11):1185-9. 2001
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| 11 | FOXC2, LPDD
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| Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.
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| 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.
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| J Med Genet 38(11):761-6. 2001
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| 12 | LPDD
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| Reduction of the genetic interval for lyphoedema-distichiasis to below 2 Mb.
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| Bell R, Brice G, Child AH, Murday VA, Mansour S, Sandy CJ, Collin JR, Mortimer P, Callen DF, Burnand K.
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| J Med Genet 37(9):725. No abstract available. 2000
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| 13 | FOXC2, FOXL1, LPDD
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| Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.
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| Fang J, Dagenais SL, Erickson RP, Arlt MF, Glynn MW, Gorski JL, Seaver LH, Glover TW.
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| Am J Hum Genet 67(6):1382-8. 2000
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| 14 | LPDD
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| A gene for lymphedema-distichiasis maps to 16q24.3.
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| Mangion J, et al.
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| Am J Hum Genet 65(2):427-32. 1999
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