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Items: 9

1.

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, Heckenlively JR, Birch DG, Inglehearn CF, Bhattacharya SS, Bird A, Sullivan LS.

Hum Mol Genet. 1999 Oct;8(11):2121-8.

2.

Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.

Daiger SP, Bowne SJ, Sullivan LS.

Cold Spring Harb Perspect Med. 2014 Oct 10;5(10). pii: a017129. doi: 10.1101/cshperspect.a017129. Review.

PMID:
25304133
3.

[Molecular genetic analysis for Japanese patients with autosomal dominant retinitis pigmentosa].

Wada Y, Tamai M.

Nippon Ganka Gakkai Zasshi. 2003 Nov;107(11):687-94. Review. Japanese.

PMID:
14661542
4.

Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.

Daiger SP, Sullivan LS, Bowne SJ, Kennan A, Humphries P, Birch DG, Heckenlively JR; RP1 Consortium.

Adv Exp Med Biol. 2003;533:1-11. Review. No abstract available.

5.

[Progress in pathogenesis and therapeutic research in retinitis pigmentosa and age-related macular degeneration].

Tamai M.

Nippon Ganka Gakkai Zasshi. 2004 Dec;108(12):750-68; discussion 769. Review. Japanese.

PMID:
15656086
6.

Pre-mRNA splicing and retinitis pigmentosa.

Mordes D, Luo X, Kar A, Kuo D, Xu L, Fushimi K, Yu G, Sternberg P Jr, Wu JY.

Mol Vis. 2006 Oct 26;12:1259-71. Review.

7.

IMP dehydrogenase-linked retinitis pigmentosa.

Hedstrom L.

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):839-49. doi: 10.1080/15257770802146486. Review.

PMID:
18600550
8.

Perspective on genes and mutations causing retinitis pigmentosa.

Daiger SP, Bowne SJ, Sullivan LS.

Arch Ophthalmol. 2007 Feb;125(2):151-8. Review.

9.

The genetic basis of Fabry disease.

Gal A, Schäfer E, Rohard I.

In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 33.

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