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

2001 ◽  
Vol 17 (3) ◽  
pp. 235-235 ◽  
Author(s):  
D. Marchant ◽  
K. Gogat ◽  
S. Boutboul ◽  
M. Péquignot ◽  
C. Sternberg ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy

scholarly journals New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

2006 ◽  
Vol 44 (3) ◽  
pp. e70-e70 ◽  
Author(s):  
D Marchant ◽  
K Yu ◽  
K Bigot ◽  
O Roche ◽  
A Germain ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy

Bestrophin Gene Mutations in Patients with Best Vitelliform Macular Dystrophy

Genomics ◽  
1999 ◽  
Vol 58 (1) ◽  
pp. 98-101 ◽  
Author(s):  
Germaine M. Caldwell ◽  
Laura E. Kakuk ◽  
Irina B. Griesinger ◽  
Stacey A. Simpson ◽  
Norma J. Nowak ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy

PREFERENTIAL HYPERACUITY PERIMETER IN BEST VITELLIFORM MACULAR DYSTROPHY

Retina ◽  
2011 ◽  
Vol 31 (5) ◽  
pp. 959-966 ◽  
Author(s):  
Giuseppe Querques ◽  
Karim Atmani ◽  
Rislie Bouzitou-Mfoumou ◽  
Nicolas Leveziel ◽  
Nathalie Massamba ◽  
...  
Keyword(s):  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy

Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)

2021 ◽  
pp. 1-11
Author(s):  
Kent W. Small ◽  
Lee M. Jampol ◽  
Benjamin Bakall ◽  
Leslie Small ◽  
Robert Wiggins ◽  
...  
Keyword(s):  
North Carolina ◽  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy

scholarly journals Multimodal imaging in best vitelliform macular dystrophy

2019 ◽  
Vol 4 ◽  
pp. 31-31
Author(s):  
Enrico Borrelli ◽  
Riccardo Sacconi ◽  
Francesco Bandello ◽  
Giuseppe Querques
Keyword(s):  
Multimodal Imaging ◽  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy

scholarly journals The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy

Biology Open ◽  
2019 ◽  
Vol 8 (7) ◽  
pp. bio041335
Author(s):  
Andrea Milenkovic ◽  
Denise Schmied ◽  
Naoyuki Tanimoto ◽  
Mathias W. Seeliger ◽  
Janet R. Sparrow ◽  
...  
Keyword(s):  
Mouse Model ◽  
Protein Stability ◽  
Macular Dystrophy ◽  
Sperm Function ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy
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