Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

By Thompson Debra A.   Janecke Andreas R.   Lange Jessica   Feathers Kecia L.   Hübner Christian A.   McHenry Christina L.   Stockton David W.   Rammesmayer Gabriele   Lupski James R.   Antinolo Guillermo   Ayuso Carmen   Baiget Montserrat   Gouras Peter   Heckenlively John R.   den Hollander Anneke   Jacobson Samuel G.   Lewis Richard A.   Sieving Paul A.   Wissinger Bernd   Yzer Suzanne   Zrenner Eberhart   Utermann Gerd   Gal Andreas  

Human Molecular Genetics, Vol. 14, Iss. 24, 2005-12 ,pp. : 3865-3875

Oxford University Press

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R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11- cis -retinal

By Samardzija Marijana   von Lintig Johannes   Tanimoto Naoyuki   Oberhauser Vitus   Thiersch Markus   Rem Charlotte E.   Seeliger Mathias   Grimm Christian   Wenzel Andreas  

Human Molecular Genetics, Vol. 17, Iss. 2, 2008-01 ,pp. : 281-292

Oxford University Press

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Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

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American Journal Of Medical Genetics Part A, Vol. 176, Iss. 2, 2018-02 ,pp. : 438-442

John Wiley & Sons Inc

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Functional analysis of cone–rod homeobox (CRX) mutations associated with retinal dystrophy

By Chen S.  

Human Molecular Genetics, Vol. 11, Iss. 8, 2002-04 ,pp. : 873-884

Oxford University Press

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Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

By Jacobson Samuel G.  

Human Molecular Genetics, Vol. 13, Iss. 17, 2004-09 ,pp. : 1893-1902

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