401 related articles for article (PubMed ID: 14737064)
1. 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; 10():37-42. PubMed ID: 14737064
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 15370539
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 12172548
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 15665352
[TBL] [Abstract][Full Text] [Related]
5. Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.
Yoshida S; Arita R; Yoshida A; Tada H; Emori A; Noda Y; Nakao S; Fujisawa K; Ishibashi T
Am J Ophthalmol; 2004 Oct; 138(4):670-1. PubMed ID: 15488808
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 15223780
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 10729291
[TBL] [Abstract][Full Text] [Related]
8. Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.
Jiao X; Ritter R; Hejtmancik JF; Edwards AO
Invest Ophthalmol Vis Sci; 2004 Dec; 45(12):4498-503. PubMed ID: 15557460
[TBL] [Abstract][Full Text] [Related]
9. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.
Chen ZY; Battinelli EM; Fielder A; Bundey S; Sims K; Breakefield XO; Craig IW
Nat Genet; 1993 Oct; 5(2):180-3. PubMed ID: 8252044
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 15024691
[TBL] [Abstract][Full Text] [Related]
11. Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy.
Shastry BS; Hejtmancik JF; Plager DA; Hartzer MK; Trese MT
Genomics; 1995 May; 27(2):341-4. PubMed ID: 7558002
[TBL] [Abstract][Full Text] [Related]
12. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.
Shastry BS; Hejtmancik JF; Trese MT
Hum Mutat; 1997; 9(5):396-401. PubMed ID: 9143917
[TBL] [Abstract][Full Text] [Related]
13. Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene.
Kondo H; Qin M; Tahira T; Uchio E; Hayashi K
Ophthalmic Genet; 2007 Dec; 28(4):220-3. PubMed ID: 18161623
[TBL] [Abstract][Full Text] [Related]
14. Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.
Riveiro-Alvarez R; Trujillo-Tiebas MJ; Gimenez-Pardo A; Garcia-Hoyos M; Cantalapiedra D; Lorda-Sanchez I; Rodriguez de Alba M; Ramos C; Ayuso C
Mol Vis; 2005 Sep; 11():705-12. PubMed ID: 16163268
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 19324841
[TBL] [Abstract][Full Text] [Related]
16. Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.
Li P; Zhang HZ; Huff S; Nimmakayalu M; Qumsiyeh M; Yu J; Szekely A; Xu T; Pober BR
Am J Med Genet A; 2006 Dec; 140(24):2721-9. PubMed ID: 17103440
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 14507768
[TBL] [Abstract][Full Text] [Related]
18. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.
Danciger M; Hendrickson J; Lyon J; Toomes C; McHale JC; Fishman GA; Inglehearn CF; Jacobson SG; Farber DB
Invest Ophthalmol Vis Sci; 2001 Oct; 42(11):2458-65. PubMed ID: 11581183
[TBL] [Abstract][Full Text] [Related]
19. Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.
Qin M; Hayashi H; Oshima K; Tahira T; Hayashi K; Kondo H
Hum Mutat; 2005 Aug; 26(2):104-12. PubMed ID: 15981244
[TBL] [Abstract][Full Text] [Related]
20. Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
Nikopoulos K; Venselaar H; Collin RW; Riveiro-Alvarez R; Boonstra FN; Hooymans JM; Mukhopadhyay A; Shears D; van Bers M; de Wijs IJ; van Essen AJ; Sijmons RH; Tilanus MA; van Nouhuys CE; Ayuso C; Hoefsloot LH; Cremers FP
Hum Mutat; 2010 Jun; 31(6):656-66. PubMed ID: 20340138
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]