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Results: 1-25 | 26-26
Results: 1-25/26
A NEW DOMINANT RETINITIS-PIGMENTOSA FAMILY MAPPING TO THE RP18 LOCUS ON CHROMOSOME 1Q11-21
Authors: INGLEHEARN CF TARTTELIN EE KEEN TJ BHATTACHARYA SS MOORE AT TAYLOR R BIRD AC
Citation: Cf. Inglehearn et al., A NEW DOMINANT RETINITIS-PIGMENTOSA FAMILY MAPPING TO THE RP18 LOCUS ON CHROMOSOME 1Q11-21, Journal of Medical Genetics, 35(9), 1998, pp. 788-789
ANALYSIS OF A HUMAN GENE HOMOLOGOUS TO RAT VENTRAL PROSTATE.1 PROTEIN
Authors: PEACOCK RE KEEN TJ INGLEHEARN CF
Citation: Re. Peacock et al., ANALYSIS OF A HUMAN GENE HOMOLOGOUS TO RAT VENTRAL PROSTATE.1 PROTEIN, Genomics, 46(3), 1997, pp. 443-449
EXCLUSION OF CAG REPEAT EXPANSION AS THE CAUSE OF DISEASE IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA FAMILIES
Authors: KEEN TJ MORRIS AG INGLEHEARN CF
Citation: Tj. Keen et al., EXCLUSION OF CAG REPEAT EXPANSION AS THE CAUSE OF DISEASE IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA FAMILIES, Journal of Medical Genetics, 34(2), 1997, pp. 130-132
CANDIDATES FOR THE RP9 GENE GENERATED FROM A TRANSCRIPT MAP IN 7P14-15
Authors: KEEN TJ INGLEHEARN CF
Citation: Tj. Keen et Cf. Inglehearn, CANDIDATES FOR THE RP9 GENE GENERATED FROM A TRANSCRIPT MAP IN 7P14-15, American journal of human genetics, 61(4), 1997, pp. 1375-1375
MUTATIONS AND POLYMORPHISMS IN THE HUMAN PERIPHERIN-RDS GENE AND THEIR INVOLVEMENT IN INHERITED RETINAL DEGENERATION
Authors: KEEN TJ INGLEHEARN CF
Citation: Tj. Keen et Cf. Inglehearn, MUTATIONS AND POLYMORPHISMS IN THE HUMAN PERIPHERIN-RDS GENE AND THEIR INVOLVEMENT IN INHERITED RETINAL DEGENERATION, Human mutation, 8(4), 1996, pp. 297-303
LOCALIZATION OF A NOVEL T(1-7) TRANSLOCATION ASSOCIATED WITH WILMS-TUMOR PREDISPOSITION AND SKELETAL ABNORMALITIES
Authors: REYNOLDS PA POWLESLAND RM KEEN TJ INGLEHEARN CF CUNNINGHAM AF GREEN ED BROWN KW
Citation: Pa. Reynolds et al., LOCALIZATION OF A NOVEL T(1-7) TRANSLOCATION ASSOCIATED WITH WILMS-TUMOR PREDISPOSITION AND SKELETAL ABNORMALITIES, Genes, chromosomes & cancer, 17(3), 1996, pp. 151-155
TOWARDS IDENTIFYING THE GENES FOR RP WITH INCOMPLETE PENETRANCE
Authors: INGLEHEARN CF ALMAGHTHEH M KEEN TJ PEACOCK RE PATEL RJ TARTTELIN EE VITHANA EN JAY MR EVANS K MOORE AT BIRD AC BHATTACHARYA SS
Citation: Cf. Inglehearn et al., TOWARDS IDENTIFYING THE GENES FOR RP WITH INCOMPLETE PENETRANCE, Investigative ophthalmology & visual science, 37(3), 1996, pp. 5159-5159
REGIONAL ASSIGNMENT OF 30 EXPRESSED SEQUENCE TAGS ON HUMAN-CHROMOSOME-7 USING A SOMATIC-CELL HYBRID PANEL
Authors: PATEL RJ KEEN TJ GRZESCHIK KH NIERMAN WC HAYES P BHATTACHARYA SS INGLEHEARN CF
Citation: Rj. Patel et al., REGIONAL ASSIGNMENT OF 30 EXPRESSED SEQUENCE TAGS ON HUMAN-CHROMOSOME-7 USING A SOMATIC-CELL HYBRID PANEL, Genomics, 30(1), 1995, pp. 112-114
YAC CONTIG SPANNING THE DOMINANT RETINITIS-PIGMENTOSA LOCUS (RP9) ON CHROMOSOME 7P
Authors: KEEN TJ INGLEHEARN CF GREEN ED CUNNINGHAM AF PATEL RJ PEACOCK RE GERKEN S WHITE R WESSENBACH J BHATTACHARYA SS
Citation: Tj. Keen et al., YAC CONTIG SPANNING THE DOMINANT RETINITIS-PIGMENTOSA LOCUS (RP9) ON CHROMOSOME 7P, Genomics, 28(3), 1995, pp. 383-388
A YAC CONTIG ENCOMPASSING THE CHROMOSOME 7P LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
Authors: INGLEHEARN CF KEEN TJ GREEN ED PELUSO DC PATEL RJ PEACOCK RE BHATTACHARYA SS
Citation: Cf. Inglehearn et al., A YAC CONTIG ENCOMPASSING THE CHROMOSOME 7P LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, Cytogenetics and cell genetics, 71(1), 1995, pp. 27-27
GENETIC REFINEMENT AND A YAC CONTIG ACROSS THE CHROMOSOME-7P AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA LOCUS (RP9) AND AN ESTIMATION OF THE FREQUENCY OF THIS AND OTHER FORMS OF DOMINANT RP IN THE UK
Authors: INGLEHEARN CF KEEN TJ TARTTELIN EE ALMAGHTHEH M EVANS KE PEACOCK RE PATEL RJ JAY M BIRD AC BHATTACHARYA SS
Citation: Cf. Inglehearn et al., GENETIC REFINEMENT AND A YAC CONTIG ACROSS THE CHROMOSOME-7P AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA LOCUS (RP9) AND AN ESTIMATION OF THE FREQUENCY OF THIS AND OTHER FORMS OF DOMINANT RP IN THE UK, Investigative ophthalmology & visual science, 36(4), 1995, pp. 1044-1044
FREQUENCIES OF DIFFERENT FORMS OF AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA AND A NEW LOCUS FOR ADRP
Authors: INGLEHEARN CF BARDIEN S TARTTELIN EE GREENBERG J ALMAGHTHEH M EBENEZER N KEEN TJ JAY M BIRD AC BHATTACHARYA SS
Citation: Cf. Inglehearn et al., FREQUENCIES OF DIFFERENT FORMS OF AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA AND A NEW LOCUS FOR ADRP, Vision research, 35, 1995, pp. 3231-3231
AUTOSOMAL-DOMINANT PATTERN DYSTROPHY OF THE RETINA ASSOCIATED WITH A 4-BASE PAIR INSERTION CODON-140 IN THE PERIPHERIN RDS GENE/
Authors: KIM RY DOLLFUS H KEEN TJ FITZKE FW ARDEN GB BHATTACHARYA SS BIRD AC
Citation: Ry. Kim et al., AUTOSOMAL-DOMINANT PATTERN DYSTROPHY OF THE RETINA ASSOCIATED WITH A 4-BASE PAIR INSERTION CODON-140 IN THE PERIPHERIN RDS GENE/, Archives of ophthalmology, 113(4), 1995, pp. 451-455
HIGH-RESOLUTION PHYSICAL MAPPING OF THE CANDIDATE REGION FOR AN AUTOSOMAL-DOMINANT FORM OF RETINITIS-PIGMENTOSA (RP9) ON CHROMOSOME 7P14-15
Authors: HENTHORN KS KEEN TJ INGLEHEARN CF BHATTACHARYA SS GREEN ED
Citation: Ks. Henthorn et al., HIGH-RESOLUTION PHYSICAL MAPPING OF THE CANDIDATE REGION FOR AN AUTOSOMAL-DOMINANT FORM OF RETINITIS-PIGMENTOSA (RP9) ON CHROMOSOME 7P14-15, American journal of human genetics, 57(4), 1995, pp. 1511-1511
PROGRESS TOWARDS THE IDENTIFICATION OF THE RP9 AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA GENE
Authors: KEEN TJ PATEL RJ GREEN ED PEACOCK RE BHATTACHARYA SS INGLEHEARN CF
Citation: Tj. Keen et al., PROGRESS TOWARDS THE IDENTIFICATION OF THE RP9 AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA GENE, American journal of human genetics, 57(4), 1995, pp. 1516-1516
REGIONAL ASSIGNMENT OF 30 EXPRESSED SEQUENCE TAGS (ESTS) ON HUMAN-CHROMOSOME-7 USING A SOMATIC-CELL HYBRID PANEL
Authors: PATEL RJ KEEN TJ GRZECHIK K NIERMAN WC HAYES P BHATTACHARYA SS INGLEHEARN CF
Citation: Rj. Patel et al., REGIONAL ASSIGNMENT OF 30 EXPRESSED SEQUENCE TAGS (ESTS) ON HUMAN-CHROMOSOME-7 USING A SOMATIC-CELL HYBRID PANEL, American journal of human genetics, 57(4), 1995, pp. 1551-1551
IDENTIFICATION OF A 6TH LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME-19
Authors: ALMAGHTHEH M INGLEHEARN CF KEEN TJ EVANS K MOORE AT JAY M BIRD AC BHATTACHARYA SS
Citation: M. Almaghtheh et al., IDENTIFICATION OF A 6TH LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME-19, Human molecular genetics, 3(2), 1994, pp. 351-354
RETINAL PATTERN DYSTROPHY ASSOCIATED WITH A 4 BP INSERTION AT CODON-140 IN THE RDS-PERIPHERIN GENE
Authors: KEEN TJ INGLEHEARN CF KIM R BIRD AC BHATTACHARYA S
Citation: Tj. Keen et al., RETINAL PATTERN DYSTROPHY ASSOCIATED WITH A 4 BP INSERTION AT CODON-140 IN THE RDS-PERIPHERIN GENE, Human molecular genetics, 3(2), 1994, pp. 367-368
LINKAGE MAPPING OF A NEW LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA (ADRP) ON THE SHORT ARM OF CHROMOSOME-7
Authors: INGLEHEARN CF KEEN TJ ALMAGHTHEH M JAY M BIRD AC BHATTACHARYA SS
Citation: Cf. Inglehearn et al., LINKAGE MAPPING OF A NEW LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA (ADRP) ON THE SHORT ARM OF CHROMOSOME-7, Cytogenetics and cell genetics, 65(1-2), 1994, pp. 68-69
MACULAR DYSTROPHY ASSOCIATED WITH MUTATIONS AT CODON-172 IN THE HUMANRETINAL DEGENERATION SLOW GENE
Authors: WROBLEWSKI JJ WELLS JA ECKSTEIN A FITZKE F JUBB C KEEN TJ INGLEHEARN C BHATTACHARYA S ARDEN GB JAY M BIRD AC
Citation: Jj. Wroblewski et al., MACULAR DYSTROPHY ASSOCIATED WITH MUTATIONS AT CODON-172 IN THE HUMANRETINAL DEGENERATION SLOW GENE, Ophthalmology, 101(1), 1994, pp. 12-22
OCULAR MANIFESTATIONS IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA WITHA LYS-296-GLU RHODOPSIN MUTATION AT THE RETINAL BINDING-SITE
Authors: OWENS SL FITZKE FW INGLEHEARN CF JAY M KEEN TJ ARDEN GB BHATTACHARYA SS BIRD AC
Citation: Sl. Owens et al., OCULAR MANIFESTATIONS IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA WITHA LYS-296-GLU RHODOPSIN MUTATION AT THE RETINAL BINDING-SITE, British journal of ophthalmology, 78(5), 1994, pp. 353-358
OCULAR FINDINGS ASSOCIATED WITH A 3-BASE-PAIR DELETION IN THE PERIPHERIN-RDS GENE IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
Authors: WROBLEWSKI JJ WELLS JA ECKSTEIN A FITZKE FW JUBB C KEEN TJ INGLEHEARN CF BHATTACHARYA SS ARDEN GB JAY MR BIRD AC
Citation: Jj. Wroblewski et al., OCULAR FINDINGS ASSOCIATED WITH A 3-BASE-PAIR DELETION IN THE PERIPHERIN-RDS GENE IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, British journal of ophthalmology, 78(11), 1994, pp. 831-836
LOCI FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA AND DOMINANT CYSTOIDMACULAR DYSTROPHY ON CHROMOSOME 7P ARE NOT ALLELIC
Authors: INGLEHEARN C KEEN TJ ALMAGHTHEH M BHATTACHARYA S
Citation: C. Inglehearn et al., LOCI FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA AND DOMINANT CYSTOIDMACULAR DYSTROPHY ON CHROMOSOME 7P ARE NOT ALLELIC, American journal of human genetics, 55(3), 1994, pp. 581-582
FURTHER REFINEMENT OF THE LOCATION FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME 7P (RP9)
Authors: INGLEHEARN CF KEEN TJ ALMAGHTHEH M GREGORY CY JAY MR MOORE AT BIRD AC BHATTACHARYA SS
Citation: Cf. Inglehearn et al., FURTHER REFINEMENT OF THE LOCATION FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME 7P (RP9), American journal of human genetics, 54(4), 1994, pp. 675-680
A NEW LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME-7P
Authors: INGLEHEARN CF CARTER SA KEEN TJ LINDSEY J STEPHENSON AM BASHIR R ALMAGHTHEH M MOORE AT JAY M BIRD AC BHATTACHARYA SS
Citation: Cf. Inglehearn et al., A NEW LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME-7P, Nature genetics, 4(1), 1993, pp. 51-53
Risultati: 1-25 | 26-26