F Testa, S Rossi, I Passerini, A Sodi, V Di … - British Medical Journal, 2008 - bjo.bmj.com Conclusion: This study reveals a de novo mutation in the BEST1 gene never
described before, sustaining the autosomal-dominant pattern of inheritance of
the disease. Clinical evaluation showed phenotypic variability between ... Related articles - All 3 versions
F Testa, S Rossi, I Passerini… - bjo.bmj.com Francesco Testa, Settimio Rossi, Ilaria Passerini, et al. ... P<P Published
online August 14, 2008 in advance of the print journal. ... A NORMAL EOG IN A
FAMILY AFFECTED BY BEST DISEASE WITH A NOVEL SPONTANEOUS MUTATION OF THE ... Related articles
D Marchant, K Gogat, P Dureau, K Sainton, C … - Ophthalmic Genetics, 2002 - informahealthcare.com 1Centre de recherche thérapeutique en ophtalmologie, équipe d'accueil 2502
MENRT, Université René Descartes Paris V, Faculté de Médecine Necker-Enfants
Malades and 2Département d'ophtalmologie, Centre Hospitalier Universitaire ... Cited by 10 - Related articles - BL Direct - All 5 versions
- ►nih.gov C Gerth, RJ Zawadzki, JS Werner, E Héon - Documenta Ophthalmologica, 2009 - Springer Abstract The objective of the paper is to study the retinal microstructure and
function in a patient with autosomal recessive bestrophinopathy (ARB). Retinal
function and morphology assessment in a patient diagnosed with a biallelic ... Cited by 1 - Related articles - All 3 versions
- ►iovs.org K Yu, Y Cui, H Hartzell - Investigative ophthalmology & visual science, 2006 - ARVO RESULTS. WT hBest1 induced Ca 2+ -activated Cl – currents in HEK cells that
were >1 nA in amplitude. The currents produced by the A243V mutant, however,
were only approximately 10% as large as WT. This was not due to the ... Cited by 20 - Related articles - BL Direct - All 6 versions
- ►emory.edu [PDF] D Marchant, K Yu, K Bigot, O Roche, A … - British Medical Journal, 2007 - jmg.bmj.com Purpose: The mutations responsible for Best vitelliform macular dystrophy (BVMD)
are found in a gene called VMD2. The VMD2 gene encodes a transmembrane protein
named bestrophin-1 (hBest1) which is a Ca 2+ -sensitive chloride channel. ... Cited by 12 - Related articles - All 5 versions
R Fischmeister, C Hartzell, M Abitbol, FM … - iro-vision.ch R Fischmeister, C Hartzell and M Abitbol Schorderet, F Munier, D Schmidt, P Le
Neindre, C Marsac, M Menasche, JL Dufier, D Marchant, K Yu, K Bigot, O Roche, A
Germain, D Bonneau, V Drouin-Garraud, DF Related articles - View as HTML - All 6 versions
Y Yanagi, H Sekine, M Mori - Ophthalmic Genetics, 2002 - informahealthcare.com Abstract Purpose: To report a novel VMD2 gene mutation in a Japanese family with
Best disease and the clinical phenotype of the patients. Patients and methods:
Mutational analysis for VMD2 was per- formed by direct sequencing in two ... Cited by 4 - Related articles - BL Direct - All 6 versions
M Mori - transport - Informa Pharma Science Abstract Purpose: To report a novel VMD2 gene mutation in a Japanese family with
Best disease and the clinical phenotype of the patients. Patients and methods:
Mutational analysis for VMD2 was per- formed by direct sequencing in two ... Related articles
- ►iovs.org K Yu, Z Qu, Y Cui, H Hartzell - Investigative Ophthalmology & Visual Science, 2007 - ARVO PURPOSE. Mutations in the hBest1 (VMD2) gene are linked to various kinds of
macular degeneration, including Best vitelliform macular dystrophy (BVMD) and
adult-onset vitelliform macular dystrophy (AVMD). The age at onset and ... Cited by 13 - Related articles - BL Direct - All 3 versions
