Boulanger-Scemama E, El Shamieh S, Démontant V, Condroyer C, Antonio A,Michiels C, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I. Next-generation sequencing applied to a large French cone andcone-rod dystrophy cohort: mutation spectrum and new genotype-phenotypecorrelation. Orphanet J Rare Dis. 2015 Jun 24;10:85. doi:10.1186/s13023-015-0300-3.
Hanein S, Perrault I, Olsen P, Lopponen T, Hietala M, Gerber S, Jeanpierre M, Barbet F, Ducroq D, Hakiki S, Munnich A, Rozet JM, Kaplan J. Evidence of afounder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenitalamaurosis pedigrees of Finnish origin. Hum Mutat. 2002 Oct;20(4):322-3.
Ito S, Nakamura M, Ohnishi Y, Miyake Y. Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. Jpn JOphthalmol. 2004 May-Jun;48(3):228-35.
Kitiratschky VB, Wilke R, Renner AB, Kellner U, Vadalà M, Birch DG, Wissinger B, Zrenner E, Kohl S. Mutation analysis identifies GUCY2D as the major generesponsible for autosomal dominant progressive cone degeneration. InvestOphthalmol Vis Sci. 2008 Nov;49(11):5015-23. doi: 10.1167/iovs.08-1901.
Payne AM, Morris AG, Downes SM, Johnson S, Bird AC, Moore AT, Bhattacharya SS,Hunt DM. Clustering and frequency of mutations in the retinal guanylate cyclase(GUCY2D) gene in patients with dominant cone-rod dystrophies. J Med Genet. 2001Sep;38(9):611-4.
Rozet JM, Perrault I, Gerber S, Hanein S, Barbet F, Ducroq D, Souied E,Munnich A, Kaplan J. Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis(LCA). Invest Ophthalmol Vis Sci. 2001 May;42(6):1190-2.
Ugur Iseri SA, Durlu YK, Tolun A. A novel recessive GUCY2D mutation causingcone-rod dystrophy and not Leber's congenital amaurosis. Eur J Hum Genet. 2010Oct;18(10):1121-6. doi: 10.1038/ejhg.2010.81.
Contributor
MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register
: Dean Liu
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?