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Items: 3

Select item 41666381.

Multifocal electroretinogram contributes to differentiation of various clinical pictures within a family with Bardet–Biedl syndrome

A Praidou, R Hagan, H Nayak, A Chandna

Eye (Lond) 2014 Sep; 28(9): 1136–1142. Published online 2014 Jul 4. doi: 10.1038/eye.2014.150

PMCID:: PMC4166638

Abstract Article PDF–2.0M

Select item 30322752.

Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy

Emmanuelle Lacassagne, Aurore Dhuez, Florence Rigaudière, Anouk Dansault, Christelle Vêtu, Karine Bigot, Véronique Vieira, Bernard Puech, Sabine Defoort-Dhellemmes, Marc Abitbol

Mol Vis. 2011; 17: 309–322. Published online 2011 Jan 29.

PMCID:: PMC3032275

Abstract Article PDF–1016K

Select item 18099123.

SUBCLINICAL CARRIERS AND CONVERSIONS IN LEBER HEREDITARY OPTIC NEUROPATHY: A PROSPECTIVE PSYCHOPHYSICAL STUDY

Alfredo A. Sadun, Solange R. Salomao, Adriana Berezovsky, Federico Sadun, Anna Maria DeNegri, Peter A. Quiros, Filipe Chicani, Dora Ventura, Piero Barboni, Jerome Sherman, Erich Sutter, Rubens Belfort, Jr, Valerio Carelli

Trans Am Ophthalmol Soc. 2006 Dec; 104: 51–61.