PubMed for id: 110830

Year	Number of Results
1993	2
1996	1
1998	1
2000	1
2002	2
2003	1
2004	4
2005	2
2006	6
2007	7
2008	4
2009	12
2010	6
2011	7
2012	4
2013	2
2023	1
2024	0

1

Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.

Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC. Chacon-Camacho OF, et al. Gene. 2013 Oct 10;528(2):178-82. doi: 10.1016/j.gene.2013.07.021. Epub 2013 Jul 27. Gene. 2013. PMID: 23900199

2

RDH12 retinopathy: novel mutations and phenotypic description.

Mackay DS, Dev Borman A, Moradi P, Henderson RH, Li Z, Wright GA, Waseem N, Gandra M, Thompson DA, Bhattacharya SS, Holder GE, Webster AR, Moore AT. Mackay DS, et al. Mol Vis. 2011;17:2706-16. Epub 2011 Oct 19. Mol Vis. 2011. PMID: 22065924 Free PMC article.

3

Novel RDH12 sequence variations in Leber congenital amaurosis.

Sodi A, Caputo R, Passerini I, Bacci GM, Menchini U. Sodi A, et al. J AAPOS. 2010 Aug;14(4):349-51. doi: 10.1016/j.jaapos.2010.04.010. J AAPOS. 2010. PMID: 20736127

4

Disease-associated variants of microsomal retinol dehydrogenase 12 (RDH12) are degraded at mutant-specific rates.

Lee SA, Belyaeva OV, Kedishvili NY. Lee SA, et al. FEBS Lett. 2010 Feb 5;584(3):507-10. doi: 10.1016/j.febslet.2009.12.009. Epub 2009 Dec 17. FEBS Lett. 2010. PMID: 20006610 Free PMC article.

5

Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.

Valverde D, Pereiro I, Vallespín E, Ayuso C, Borrego S, Baiget M. Valverde D, et al. Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1065-8. doi: 10.1167/iovs.08-2083. Epub 2008 Nov 14. Invest Ophthalmol Vis Sci. 2009. PMID: 19011012

6

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

Fingert JH, Oh K, Chung M, Scheetz TE, Andorf JL, Johnson RM, Sheffield VC, Stone EM. Fingert JH, et al. Arch Ophthalmol. 2008 Sep;126(9):1301-7. doi: 10.1001/archopht.126.9.1301. Arch Ophthalmol. 2008. PMID: 18779497

7

Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.

Sun W, Gerth C, Maeda A, Lodowski DT, Van Der Kraak L, Saperstein DA, Héon E, Palczewski K. Sun W, et al. Vision Res. 2007 Jul;47(15):2055-66. doi: 10.1016/j.visres.2007.04.005. Epub 2007 May 21. Vision Res. 2007. PMID: 17512964 Free PMC article.

8

RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism.

Keller B, Adamski J. Keller B, et al. J Steroid Biochem Mol Biol. 2007 May;104(3-5):190-4. doi: 10.1016/j.jsbmb.2007.03.015. Epub 2007 Mar 23. J Steroid Biochem Mol Biol. 2007. PMID: 17512723

9

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

Schuster A, Janecke AR, Wilke R, Schmid E, Thompson DA, Utermann G, Wissinger B, Zrenner E, Gal A. Schuster A, et al. Invest Ophthalmol Vis Sci. 2007 Apr;48(4):1824-31. doi: 10.1167/iovs.06-0628. Invest Ophthalmol Vis Sci. 2007. PMID: 17389517

10

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

Janecke AR, Thompson DA, Utermann G, Becker C, Hübner CA, Schmid E, McHenry CL, Nair AR, Rüschendorf F, Heckenlively J, Wissinger B, Nürnberg P, Gal A. Janecke AR, et al. Nat Genet. 2004 Aug;36(8):850-4. doi: 10.1038/ng1394. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258582

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