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26 in total

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

Authors: B Bakall; T Marknell; S Ingvast; M J Koisti; O Sandgren; W Li; A A Bergen; S Andreasson; T Rosenberg; K Petrukhin; C Wadelius
Journal: Hum Genet Date: 1999-05 Impact factor: 4.132

2. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium.

Authors: A D Marmorstein; L Y Marmorstein; M Rayborn; X Wang; J G Hollyfield; K Petrukhin
Journal: Proc Natl Acad Sci U S A Date: 2000-11-07 Impact factor: 11.205

3. Identification of the gene responsible for Best macular dystrophy.

Authors: K Petrukhin; M J Koisti; B Bakall; W Li; G Xie; T Marknell; O Sandgren; K Forsman; G Holmgren; S Andreasson; M Vujic; A A Bergen; V McGarty-Dugan; D Figueroa; C P Austin; M L Metzker; C T Caskey; C Wadelius
Journal: Nat Genet Date: 1998-07 Impact factor: 38.330

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.

Authors: J M Seddon; M A Afshari; S Sharma; P S Bernstein; S Chong; A Hutchinson; K Petrukhin; R Allikmets
Journal: Ophthalmology Date: 2001-11 Impact factor: 12.079

5. Hereditary vitelliform macular degeneration: variable fundus findings within a single pedigree.

Authors: W F Maloney; D M Robertson; S M Duboff
Journal: Arch Ophthalmol Date: 1977-06

6. 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.

Authors: F Krämer; K White; D Pauleikhoff; A Gehrig; L Passmore; A Rivera; G Rudolph; U Kellner; M Andrassi; B Lorenz; K Rohrschneider; A Blankenagel; B Jurklies; H Schilling; F Schütt; F G Holz; B H Weber
Journal: Eur J Hum Genet Date: 2000-04 Impact factor: 4.246

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

Authors: A Marquardt; H Stöhr; L A Passmore; F Krämer; A Rivera; B H Weber
Journal: Hum Mol Genet Date: 1998-09 Impact factor: 6.150

[Morbus Best].