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Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree.

Toomes C, Downey LM, Bottomley HM, Mintz-Hittner HA, Inglehearn CF.

Br J Ophthalmol. 2005 Feb;89(2):194-7.PMID: 15665352 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

Toomes C, Downey LM, Bottomley HM, Scott S, Woodruff G, Trembath RC, Inglehearn CF.

Mol Vis. 2004 Jan 15;10:37-42.PMID: 14737064 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.

Bamashmus MA, Downey LM, Inglehearn CF, Gupta SR, Mansfield DC.

Br J Ophthalmol. 2000 Apr;84(4):358-63.PMID: 10729291 [PubMed - indexed for MEDLINE]Related articlesFree article

Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity.

Price SM, Periam N, Humphries A, Woodruff G, Trembath RC.

Ophthalmic Genet. 1996 Jun;17(2):53-7.PMID: 8832721 [PubMed - indexed for MEDLINE]Related articles

Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis.

Kondo H, Ohno K, Tahira T, Hayashi H, Oshima K, Hayashi K.

Hum Genet. 2001 May;108(5):368-75.PMID: 11409862 [PubMed - indexed for MEDLINE]Related articles

Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.

Downey LM, Bottomley HM, Sheridan E, Ahmed M, Gilmour DF, Inglehearn CF, Reddy A, Agrawal A, Bradbury J, Toomes C.

Br J Ophthalmol. 2006 Sep;90(9):1163-7.PMID: 16929062 [PubMed - indexed for MEDLINE]Related articlesFree article

Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).

Omoto S, Hayashi T, Kitahara K, Takeuchi T, Ueoka Y.

Ophthalmic Genet. 2004 Jun;25(2):81-90.PMID: 15370539 [PubMed - indexed for MEDLINE]Related articles

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.

Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dubé MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME.

Nat Genet. 2002 Oct;32(2):326-30. Epub 2002 Aug 12.PMID: 12172548 [PubMed - indexed for MEDLINE]Related articles

Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

Kondo H, Hayashi H, Oshima K, Tahira T, Hayashi K.

Br J Ophthalmol. 2003 Oct;87(10):1291-5.PMID: 14507768 [PubMed - indexed for MEDLINE]Related articlesFree article

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF.

Am J Hum Genet. 2004 Nov;75(5):878-84. Epub 2004 Sep 2.PMID: 15346351 [PubMed - indexed for MEDLINE]Related articlesFree article

Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy.

Shastry BS, Hejtmancik JF, Plager DA, Hartzer MK, Trese MT.

Genomics. 1995 May 20;27(2):341-4.PMID: 7558002 [PubMed - indexed for MEDLINE]Related articles

A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.

Downey LM, Keen TJ, Roberts E, Mansfield DC, Bamashmus M, Inglehearn CF.

Am J Hum Genet. 2001 Mar;68(3):778-81. Epub 2001 Jan 19.PMID: 11179025 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

Boonstra FN, van Nouhuys CE, Schuil J, de Wijs IJ, van der Donk KP, Nikopoulos K, Mukhopadhyay A, Scheffer H, Tilanus MA, Cremers FP, Hoefsloot LH.

Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4379-85. Epub 2009 Mar 25.PMID: 19324841 [PubMed - indexed for MEDLINE]Related articles

[Preliminary linkage analysis of a Chinese family with benign familial infantile convulsion]

Xiong G, Deng FY, Xiao B, Yang XS, Ning JC, Wu ZG, Wang K, Deng HW.

Zhonghua Er Ke Za Zhi. 2004 Jun;42(6):424-8. Chinese. PMID: 15265426 [PubMed - indexed for MEDLINE]Related articles

Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.

Kondo H, Qin M, Kusaka S, Tahira T, Hasebe H, Hayashi H, Uchio E, Hayashi K.

Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1276-82.PMID: 17325173 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF.

Am J Hum Genet. 2004 Apr;74(4):721-30. Epub 2004 Mar 11.PMID: 15024691 [PubMed - indexed for MEDLINE]Related articlesFree article

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

Toomes C, Bottomley HM, Scott S, Mackey DA, Craig JE, Appukuttan B, Stout JT, Flaxel CJ, Zhang K, Black GC, Fryer A, Downey LM, Inglehearn CF.

Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2083-90.PMID: 15223780 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family.

Yamada K, Tomita HA, Kanazawa S, Mera A, Amemiya T, Niikawa N.

Am J Ophthalmol. 2000 Feb;129(2):159-65.PMID: 10682967 [PubMed - indexed for MEDLINE]Related articles

Further evidence of genetic heterogeneity segregating with hereditary gingival fibromatosis.

Ye X, Shi L, Yin W, Meng L, Wang QK, Bian Z.

J Clin Periodontol. 2009 Aug;36(8):627-33. Epub 2009 Jun 22.PMID: 19552635 [PubMed - indexed for MEDLINE]Related articles

Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy.

Shastry BS, Trese MT.

Eur J Hum Genet. 2004 Jan;12(1):79-82.PMID: 14560311 [PubMed - indexed for MEDLINE]Related articlesFree article