Search Results - "Bakall, B."

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease by Braun, Terry A, Mullins, Robert F, Wagner, Alex H, Andorf, Jeaneen L, Johnston, Rebecca M, Bakall, Benjamin B, Deluca, Adam P, Fishman, Gerald A, Lam, Byron L, Weleber, Richard G, Cideciyan, Artur V, Jacobson, Samuel G, Sheffield, Val C, Tucker, Budd A, Stone, Edwin M

“…Mutations in ABCA4 cause Stargardt disease and other blinding autosomal recessive retinal disorders. However, sequencing of the complete coding sequence in…”
Get full text

Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 ( VMD2) by Bakall, B., Radu, R.A., Stanton, J.B., Burke, J.M., McKay, B.S., Wadelius, C., Mullins, R.F., Stone, E.M., Travis, G.H., Marmorstein, A.D.

“…Best vitelliform macular dystrophy (BMD) is an autosomal dominant inherited macular degenerative disease caused by mutations in the gene BEST1 (formerly VMD2)…”
Get full text

The mutation spectrum of the bestrophin protein : functional implications by BAKALL, B, MARKNELL, T, WADELIUS, C, INGVAST, S, KOISTI, M. J, SANDGREN, O, WEN LI, BERGEN, A. A. B, ANDREASSON, S, ROSENBERG, T, PETRUKHIN, K

“…Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2 (VMD2; OMIM 153700), is an autosomal dominant form of macular…”
Get full text

Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene by Eksandh, Louise, Bakall, Benjamin, Bauer, Birgitta, Wadelius, Claes, Andréasson, Sten

“…Purpose: To describe the clinical phenotype in a family with Best's vitelliform macular dystrophy (BMD) and a new mutation (Val89Ala) in the VMD2 gene…”
Get full text

Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene by Ponjavic, Vesna, Eksandh, Louise, Andréasson, Sten, Sjöström, Kerstin, Bakall, B., Ingvast, S., Wadelius, Claes, Ehinger, Berndt

“…Objective: To examine the clinical phenotype of three Swedish families with Best's vitelliform macular dystrophy (BMD) and three different mutations in the…”
Get full text

Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism by Melberg, Atle, Arnell, Henrik, Dahl, Niklas, Stålberg, Erik, Raininko, Raili, Oldfors, Anders, Bakall, Benjamin, Lundberg, Per Olov, Holme, Elisabeth

“…A large Swedish family with members affected by progressive external ophthalmoplegia with hypogonadism were followed‐up and reviewed. Hypogonadism included…”
Get full text

Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca²⁺ channels in retinal pigment epithelial cells by Rosenthal, Rita, Bakall, Benjamin, Kinnick, Tyson, Peachey, Neal, Wimmers, Sönke, Wadelius, Claes, Marmorstein, Alan, Strauss, Olaf

“…Mutations in the VMD2 gene cause Best's disease, an inherited form of macular degeneration. The reduction in the light‐peak amplitude in the patient's…”
Get full text

Identification of the gene responsible for Best macular dystrophy by Petrukhin, Konstantin, Wadelius, Claes, Koisti, Markus J, Bakall, Benjamin, Li, Wen, Xie, Guochun, Marknell, Towa, Sandgren, Ola, Forsman, Kristina, Holmgren, Gösta, Andreasson, Sten, Vujic, Mihailo, Bergen, Arthur A. B, McGarty-Dugan, Valarie, Figueroa, David, Austin, Christopher P, Metzker, Michael L, Caskey, C.Thomas

“…Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration…”
Get full text

Comparison of microbiology and visual outcomes of patients undergoing small-gauge and 20-gauge vitrectomy for endophthalmitis by Almeida, David Rp, Chin, Eric K, Shah, Shaival S, Bakall, Benjamin, Gehrs, Karen M, Boldt, H Culver, Russell, Stephen R, Folk, James C, Mahajan, Vinit B

“…The role of pars plana vitrectomy (PPV) for endophthalmitis has evolved over recent decades but the literature is lacking on comparisons between small-gauge…”
Get full text

Expression and Localization of Bestrophin during Normal Mouse Development by Bakall, Benjamin, Marmorstein, Lihua Y, Hoppe, George, Peachey, Neal S, Wadelius, Claes, Marmorstein, Alan D

“…Best macular dystrophy is caused by mutations in the VMD2 gene, which encodes the protein bestrophin. The purpose of this study was to determine the postnatal…”
Get full text

A Model of Best Vitelliform Macular Dystrophy in Rats by Marmorstein, Alan D, Stanton, J. Brett, Yocom, John, Bakall, Benjamin, Schiavone, Marc T, Wadelius, Claes, Marmorstein, Lihua Y, Peachey, Neal S

“…The VMD2 gene, mutated in Best macular dystrophy (BMD) encodes bestrophin, a 68-kDa basolateral plasma membrane protein expressed in retinal pigment epithelial…”
Get full text

Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca super(2+) channels in retinal pigment epithelial cells by Rosenthal, R, Bakall, B, Kinnick, T, Peachey, N, Wimmers, S, Wadelius, C, Marmorstein, A, Strauss, O

“…Mutations in the VMD2 gene cause Best's vitelliform macular degeneration. The gene product of VMD2, bestrophin-1, has been described as a Ca…”
Get full text