Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 159

1.

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.

Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, Gire AI, Hughbanks-Wheaton D, Birch DG, Lewis RA, Heckenlively JR, Daiger SP.

Invest Ophthalmol Vis Sci. 2006 Jan;47(1):34-42.

2.

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP.

Hum Mol Genet. 2002 Mar 1;11(5):559-68.

3.

Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa.

Wada Y, Tada A, Itabashi T, Kawamura M, Sato H, Tamai M.

Am J Ophthalmol. 2005 Jul;140(1):163-5.

PMID:
16038673
4.

Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.

Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP.

Invest Ophthalmol Vis Sci. 2005 May;46(5):1735-41.

PMID:
15851576
5.

Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.

Gandra M, Anandula V, Authiappan V, Sundaramurthy S, Raman R, Bhattacharya S, Govindasamy K.

Mol Vis. 2008 Jun 14;14:1105-13.

6.

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

van den Hurk JA, Rashbass P, Roepman R, Davis J, Voesenek KE, Arends ML, Zonneveld MN, van Roekel MH, Cameron K, Rohrschneider K, Heckenlively JR, Koenekoop RK, Hoyng CB, Cremers FP, den Hollander AI.

Mol Vis. 2005 Apr 15;11:263-73.

7.

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E; LCA5 Study Group, Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CC, Klevering BJ, Lorenz B, Preising MN, Ramesar R, Roberts L, Roepman R, Rohrschneider K, Wissinger B, Qamar R, Webster AR, Cremers FP, Moore AT, Koenekoop RK.

Hum Mutat. 2013 Nov;34(11):1537-46. doi: 10.1002/humu.22398. Epub 2013 Sep 17. Erratum in: Hum Mutat. 2014 Jan;35(1):149. Ramsear, Raj [corrected to Ramesar, Raj].

8.

A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.

Grover S, Fishman GA, Stone EM.

Ophthalmology. 2004 Oct;111(10):1910-6.

PMID:
15465556
9.

Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.

Schatz P, Ponjavic V, Andréasson S, McGee TL, Dryja TP, Abrahamson M.

Ophthalmic Genet. 2005 Sep;26(3):119-24.

PMID:
16272056
10.

Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?

Bowne SJ, Liu Q, Sullivan LS, Zhu J, Spellicy CJ, Rickman CB, Pierce EA, Daiger SP.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3754-65.

11.

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.

Gene. 2013 Oct 10;528(2):178-82. doi: 10.1016/j.gene.2013.07.021. Epub 2013 Jul 27.

PMID:
23900199
12.

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP.

Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3052-64.

14.

Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.

Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R.

Acta Ophthalmol Scand. 2007 May;85(3):287-97.

15.

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK.

Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5690-8.

PMID:
18055821
16.

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.

Vision Res. 2007 Jul;47(15):2055-66. Epub 2007 May 21.

17.

Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa.

Spellicy CJ, Xu D, Cobb G, Hedstrom L, Bowne SJ, Sullivan LS, Daiger SP.

Adv Exp Med Biol. 2010;664:541-8. doi: 10.1007/978-1-4419-1399-9_62.

18.

IMP dehydrogenase-linked retinitis pigmentosa.

Hedstrom L.

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

PMID:
18600550
19.

Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.

Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP.

Mol Vis. 2003 Feb 18;9:49-51.

20.

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.

Supplemental Content

Support Center