Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 219

1.

Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity.

Farrar GJ, McWilliam P, Bradley DG, Kenna P, Lawler M, Sharp EM, Humphries MM, Eiberg H, Conneally PM, Trofatter JA, et al.

Genomics. 1990 Sep;8(1):35-40.

PMID:
2081598
2.

Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease.

Humphries P, Farrar GJ, Kenna P, McWilliam P.

Clin Genet. 1990 Jul;38(1):1-13. Review.

PMID:
2201466
3.

Autosomal dominant retinitis pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus.

Jordan SA, del Rio T, Soriano N, Garcia-Sandoval B, Kenna P, Ayuso C, Benitez J, Humphries P.

Hum Mol Genet. 1992 Sep;1(6):411-5.

PMID:
1301915
4.

A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

Inglehearn CF, Bashir R, Lester DH, Jay M, Bird AC, Bhattacharya SS.

Am J Hum Genet. 1991 Jan;48(1):26-30.

5.

Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.

Lester DH, Inglehearn CF, Bashir R, Ackford H, Esakowitz L, Jay M, Bird AC, Wright AF, Papiha SS, Bhattacharya SS.

Am J Hum Genet. 1990 Sep;47(3):536-41.

6.

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.

Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL.

Nature. 1990 Jan 25;343(6256):364-6.

PMID:
2137202
7.

Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3.

McWilliam P, Farrar GJ, Kenna P, Bradley DG, Humphries MM, Sharp EM, McConnell DJ, Lawler M, Sheils D, Ryan C, et al.

Genomics. 1989 Oct;5(3):619-22.

PMID:
2613244
8.

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.

Inglehearn CF, Keen TJ, Bashir R, Jay M, Fitzke F, Bird AC, Crombie A, Bhattacharya S.

Hum Mol Genet. 1992 Apr;1(1):41-5.

PMID:
1301135
9.

Exclusion of chromosome 6 and 8 locations in nonrhodopsin autosomal dominant retinitis pigmentosa families: further locus heterogeneity in adRP.

Bashir R, Inglehearn CF, Keen TJ, Lindsey J, Atif U, Carter SA, Stephenson AM, Jackson A, Jay M, Bird AC, et al.

Genomics. 1992 Sep;14(1):191-3.

PMID:
1427827
10.

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.

Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils D, Humphries P.

Genomics. 1992 Nov;14(3):805-7. Erratum in: Genomics 1993 Feb;15(2):466.

PMID:
1427912
11.

Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8).

Kumar-Singh R, Farrar GJ, Mansergh F, Kenna P, Bhattacharya S, Gal A, Humphries P.

Hum Mol Genet. 1993 Jul;2(7):875-8.

PMID:
8364569
12.

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils DM, Humphries P.

Nature. 1991 Dec 12;354(6353):478-80.

PMID:
1749427
13.

Clinical and genetic aspects of two Spanish families with autosomal dominant retinitis pigmentosa (ADRP)

Vilela C, Beneyto M, Bosch R, Millan JM, Marco M, Vallet M, Alonso L, Tormos I, Najera C, Valls B, Paricio N, Prieto F.

Ophthalmic Genet. 1996 Mar;17(1):29-33. Erratum in: Ophthalmic Genet 1996 Jun;17(2):85.

PMID:
8740695
14.

[A study on localization of an autosomal dominant retinitis pigmentosa gene].

Ma X, Wei R, Cai J, Zhu L.

Zhonghua Yan Ke Za Zhi. 2002 Nov;38(11):680-3. Chinese.

PMID:
12487900
15.

Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6.

Farrar GJ, Jordan SA, Kenna P, Humphries MM, Kumar-Singh R, McWilliam P, Allamand V, Sharp E, Humphries P.

Genomics. 1991 Dec;11(4):870-4. Erratum in: Genomics 1992 Aug;13(4):1384.

PMID:
1783395
16.

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

Greenberg J, Goliath R, Beighton P, Ramesar R.

Hum Mol Genet. 1994 Jun;3(6):915-8.

PMID:
7951236
17.

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF.

Hum Mol Genet. 2001 Jul 15;10(15):1555-62.

PMID:
11468273
18.

[Screening of candidate genes in a family with autosomal dominant retinitis pigmentosa].

Teng Y, Tian H, Wang H, Hu X, Chen Y, Yang Z, Wang W.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Apr;20(2):164-6. Chinese.

PMID:
12673590
19.

Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site.

Keen TJ, Inglehearn CF, Lester DH, Bashir R, Jay M, Bird AC, Jay B, Bhattacharya SS.

Genomics. 1991 Sep;11(1):199-205.

PMID:
1765377
20.

Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.

Farrar GJ, Kenna P, Redmond R, McWilliam P, Bradley DG, Humphries MM, Sharp EM, Inglehearn CF, Bashir R, Jay M, et al.

Am J Hum Genet. 1990 Dec;47(6):941-5.

Supplemental Content

Support Center