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Items: 1 to 20 of 119

1.

Identification of the gene responsible for Best macular dystrophy.

Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C.

Nat Genet. 1998 Jul;19(3):241-7.

PMID:
9662395
2.

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).

Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A, Weber BH.

Hum Mol Genet. 1998 Sep;7(9):1517-25.

PMID:
9700209
3.

The mutation spectrum of the bestrophin protein--functional implications.

Bakall B, Marknell T, Ingvast S, Koisti MJ, Sandgren O, Li W, Bergen AA, Andreasson S, Rosenberg T, Petrukhin K, Wadelius C.

Hum Genet. 1999 May;104(5):383-9.

PMID:
10394929
4.

Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy.

Seddon JM, Afshari MA, Sharma S, Bernstein PS, Chong S, Hutchinson A, Petrukhin K, Allikmets R.

Ophthalmology. 2001 Nov;108(11):2060-7.

PMID:
11713080
5.

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.

Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH.

Eur J Hum Genet. 2000 Apr;8(4):286-92.

6.

VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.

White K, Marquardt A, Weber BH.

Hum Mutat. 2000;15(4):301-8. Review.

PMID:
10737974
7.

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.

Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K.

Nat Genet. 2001 Jan;27(1):89-93.

PMID:
11138005
8.

A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family.

Edwards AO, Donoso LA, Ritter R 3rd.

Invest Ophthalmol Vis Sci. 2001 Oct;42(11):2652-63.

PMID:
11581213
9.

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.

Marchant D, Gogat K, Boutboul S, Péquignot M, Sternberg C, Dureau P, Roche O, Uteza Y, Hache JC, Puech B, Puech V, Dumur V, Mouillon M, Munier FL, Schorderet DF, Marsac C, Dufier JL, Abitbol M.

Hum Mutat. 2001 Mar;17(3):235.

PMID:
11241846
10.

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.

Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R.

Genomics. 1999 May 15;58(1):98-101.

PMID:
10331951
11.

Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.

Marchant D, Gogat K, Dureau P, Sainton K, Sternberg C, Gadin S, Dollfus H, Brasseur G, Hache JC, Dumur V, Puech V, Munier F, Schorderet DF, Marsac C, Menasche M, Dufier JL, Abitbol M.

Ophthalmic Genet. 2002 Sep;23(3):167-74.

PMID:
12324875
12.

Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.

Allikmets R, Seddon JM, Bernstein PS, Hutchinson A, Atkinson A, Sharma S, Gerrard B, Li W, Metzker ML, Wadelius C, Caskey CT, Dean M, Petrukhin K.

Hum Genet. 1999 Jun;104(6):449-53.

PMID:
10453731
13.

Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).

Krämer F, Mohr N, Kellner U, Rudolph G, Weber BH.

Hum Mutat. 2003 Nov;22(5):418.

PMID:
14517959
14.

Phenotype and genotype correlations in two best families.

Seddon JM, Sharma S, Chong S, Hutchinson A, Allikmets R, Adelman RA.

Ophthalmology. 2003 Sep;110(9):1724-31.

PMID:
13129869
15.

A novel mutation in the VMD2 gene in an Italian family with Best maculopathy.

Sodi A, Passerini I, Simonelli F, Testa F, Menchini U, Torricelli F.

J Fr Ophtalmol. 2007 Jun;30(6):616-20.

16.

A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy.

Li Y, Wang G, Dong B, Sun X, Turner MJ, Kamaya S, Zhang K.

Ann Acad Med Singapore. 2006 Jun;35(6):408-10.

17.

Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.

Atchaneeyasakul LO, Jinda W, Sakolsatayadorn N, Trinavarat A, Ruangvoravate N, Thanasombatskul N, Thongnoppakhun W, Limwongse C.

Ophthalmic Genet. 2008 Sep;29(3):139-44. doi: 10.1080/13816810802087394.

PMID:
18766995
18.

Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.

Eksandh L, Bakall B, Bauer B, Wadelius C, Andréasson S.

Ophthalmic Genet. 2001 Jun;22(2):107-15.

PMID:
11449320
19.

Late onset is common in best macular dystrophy associated with VMD2 gene mutations.

Renner AB, Tillack H, Kraus H, Krämer F, Mohr N, Weber BH, Foerster MH, Kellner U.

Ophthalmology. 2005 Apr;112(4):586-92.

PMID:
15808248
20.

A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case.

Palomba G, Rozzo C, Angius A, Pierrottet CO, Orzalesi N, Pirastu M.

Am J Ophthalmol. 2000 Feb;129(2):260-2.

PMID:
10682987
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