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Items: 1 to 20 of 23

1.

A second generation human haplotype map of over 3.1 million SNPs.

International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallée C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archevêque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J.

Nature. 2007 Oct 18;449(7164):851-61.

3.

Visual rhodopsin sees the light: structure and mechanism of G protein signaling.

Ridge KD, Palczewski K.

J Biol Chem. 2007 Mar 30;282(13):9297-301. Epub 2007 Feb 8. Review.

4.

Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene.

Zhu L, Imanishi Y, Filipek S, Alekseev A, Jastrzebska B, Sun W, Saperstein DA, Palczewski K.

J Biol Chem. 2006 Aug 4;281(31):22289-98. Epub 2006 May 31.

5.

[Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations].

Maubaret C, Hamel C.

J Fr Ophtalmol. 2005 Jan;28(1):71-92. Review. French.

7.

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses.

Lindner TH, Hoffmann K.

Bioinformatics. 2005 Feb 1;21(3):405-7. Epub 2004 Sep 3.

PMID:
15347576
8.

The retinal conformation and its environment in rhodopsin in light of a new 2.2 A crystal structure.

Okada T, Sugihara M, Bondar AN, Elstner M, Entel P, Buss V.

J Mol Biol. 2004 Sep 10;342(2):571-83.

PMID:
15327956
9.

Retinitis pigmentosa: genes, proteins and prospects.

Hims MM, Diager SP, Inglehearn CF.

Dev Ophthalmol. 2003;37:109-25. Review.

PMID:
12876833
10.

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

Rivolta C, Sharon D, DeAngelis MM, Dryja TP.

Hum Mol Genet. 2002 May 15;11(10):1219-27. Review. Erratum in: Hum Mol Genet. 2003 Mar 1;12(5):583-4.

PMID:
12015282
11.

Structure of rhodopsin and the superfamily of seven-helical receptors: the same and not the same.

Sakmar TP.

Curr Opin Cell Biol. 2002 Apr;14(2):189-95. Review.

PMID:
11891118
12.

Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies.

Gregory-Evans K, Bhattacharya SS.

Trends Genet. 1998 Mar;14(3):103-8. Review.

PMID:
9540407
13.

A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.

Inglehearn CF, Tarttelin EE, Plant C, Peacock RE, al-Maghtheh M, Vithana E, Bird AC, Bhattacharya SS.

J Med Genet. 1998 Jan;35(1):1-5.

14.

Inherited retinal degeneration: exceptional genetic and clinical heterogeneity.

Sullivan LS, Daiger SP.

Mol Med Today. 1996 Sep;2(9):380-6. Review.

PMID:
8885257
15.

Retinitis pigmentosa. The Friedenwald Lecture.

Berson EL.

Invest Ophthalmol Vis Sci. 1993 Apr;34(5):1659-76. Review. No abstract available.

PMID:
8473105
16.
17.

Missense rhodopsin mutation in a family with recessive RP.

Kumaramanickavel G, Maw M, Denton MJ, John S, Srikumari CR, Orth U, Oehlmann R, Gal A.

Nat Genet. 1994 Sep;8(1):10-1. No abstract available.

PMID:
7987385
18.

Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors.

Bennett RL, Steinhaus KA, Uhrich SB, O'Sullivan CK, Resta RG, Lochner-Doyle D, Markel DS, Vincent V, Hamanishi J.

Am J Hum Genet. 1995 Mar;56(3):745-52.

19.

Genetic and clinical characterization of a survey population with retinitis pigmentosa.

Boughman JA, Caldwell RJ.

Prog Clin Biol Res. 1982;82:147-66. No abstract available.

PMID:
7111271
20.

On the heredity of retinitis pigmentosa.

Jay M.

Br J Ophthalmol. 1982 Jul;66(7):405-16.

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