Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 128

1.

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. doi: 10.3109/13816811003620517.

PMID:
20450314
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. doi: 10.1111/j.1365-4632.2008.03962.x.

PMID:
18986489
3.

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.

PMID:
12719382
4.

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. doi: 10.1002/ajmg.a.33273.

PMID:
20186799
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;42(4):152-60.

PMID:
20218083
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. doi: 10.1016/j.gene.2012.01.098. Epub 2012 Feb 14. Erratum in: Gene. 2012 Aug 10;504(2):317.

PMID:
22349027
7.

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. Review.

PMID:
19013876
8.

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;62(6):470-3.

PMID:
12485195
9.
10.

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;134(4):592-6.

PMID:
12383817
11.

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;39(7):478-83.

12.

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;67(6):1382-8. Epub 2000 Nov 8.

13.

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;39(6):731-3. doi: 10.1111/ced.12389. Epub 2014 Jul 1.

PMID:
24984567
14.

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;7(5):354-7.

PMID:
14566319
15.

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;171(3):447-50. doi: 10.1007/s00431-011-1557-8. Epub 2011 Sep 15.

PMID:
21918810
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;158A(4):839-49. doi: 10.1002/ajmg.a.35229. Epub 2012 Mar 9.

17.
18.

A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus.

Yildirim-Toruner C, Subramanian K, El Manjra L, Chen E, Goldstein S, Vitale E.

Am J Med Genet A. 2004 Dec 15;131(3):281-6.

PMID:
15523639
19.

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 May-Jun;23(3):411-3. doi: 10.1684/ejd.2013.2022. No abstract available.

PMID:
23747797
20.

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;38(11):761-6.

Supplemental Content

Support Center