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Results: 1-23 |
Results: 23
NOVEL MUTATIONS IN THE TIGR GENE IN EARLY AND LATE-ONSET OPEN-ANGLE GLAUCOMA
Authors: MANSERGH FC KENNA PF AYUSO C KIANG AS HUMPHRIES P FARRAR GJ
Citation: Fc. Mansergh et al., NOVEL MUTATIONS IN THE TIGR GENE IN EARLY AND LATE-ONSET OPEN-ANGLE GLAUCOMA, Human mutation, 11(3), 1998, pp. 244-251
A NOVEL ASP380ALA MUTATION IN THE GLC1A MYOCILIN GENE IN A FAMILY WITH JUVENILE-ONSET PRIMARY OPEN-ANGLE GLAUCOMA/
Authors: KENNAN AM MANSERGH FC FINGERT JH CLARK T AYUSO C KENNA PF HUMPHRIES P FARRAR GJ
Citation: Am. Kennan et al., A NOVEL ASP380ALA MUTATION IN THE GLC1A MYOCILIN GENE IN A FAMILY WITH JUVENILE-ONSET PRIMARY OPEN-ANGLE GLAUCOMA/, Journal of Medical Genetics, 35(11), 1998, pp. 957-960
LACK OF EVIDENCE FOR GENETIC-HETEROGENEITY IN BEST VITELLIFORM MACULAR DYSTROPHY
Authors: MANSERGH F MEITINGER T RODOLPH G HUMPHRIES P FARRAR GJ
Citation: F. Mansergh et al., LACK OF EVIDENCE FOR GENETIC-HETEROGENEITY IN BEST VITELLIFORM MACULAR DYSTROPHY, Journal of Medical Genetics, 35(1), 1998, pp. 85-86
RETINOPATHY INDUCED IN MICE BY TARGETED DISRUPTION OF THE RHODOPSIN GENE
Authors: HUMPHRIES MM RANCOURT D FARRAR GJ KENNA P HAZEL M BUSH RA SIEVING PA SHEILS DM MCNALLY N CREIGHTON P ERVEN A BOROS A GULYA K CAPECCHI MR HUMPHRIES P
Citation: Mm. Humphries et al., RETINOPATHY INDUCED IN MICE BY TARGETED DISRUPTION OF THE RHODOPSIN GENE, Nature genetics, 15(2), 1997, pp. 216-219
STRATEGEMS IN-VITRO FOR GENE THERAPIES DIRECTED TO DOMINANT MUTATIONS
Authors: MILLINGTONWARD S ONEILL B TUOHY G ALJANDAL N KIANG AS KENNA PF PALFI A HAYDEN P MANSERGH F KENNAN A HUMPHRIES P FARRAR GJ
Citation: S. Millingtonward et al., STRATEGEMS IN-VITRO FOR GENE THERAPIES DIRECTED TO DOMINANT MUTATIONS, Human molecular genetics, 6(9), 1997, pp. 1415-1426
PHOTORECEPTOR MORPHOLOGY IN RHODOPSIN KNOCKOUT MICE
Authors: BUSH RA HUMPHRIES P HUMPHRIES MM FARRAR GJ KENNA P SIEVING PA
Citation: Ra. Bush et al., PHOTORECEPTOR MORPHOLOGY IN RHODOPSIN KNOCKOUT MICE, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3247-3247
CLINICAL AND MOLECULAR-GENETIC CHARACTERIZATION OF A FAMILY SEGREGATING AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA AND SENSORINEURAL DEAFNESS
Authors: KENNA P MANSERGH F MILLINGTONWARD S ERVEN A KUMARSINGH R BRENNAN R FARRAR GJ HUMPHRIES P
Citation: P. Kenna et al., CLINICAL AND MOLECULAR-GENETIC CHARACTERIZATION OF A FAMILY SEGREGATING AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA AND SENSORINEURAL DEAFNESS, British journal of ophthalmology, 81(3), 1997, pp. 207-213
2 NOVEL MUTATIONS IN THE TIGR GENE IN PRIMARY OPEN-ANGLE GLAUCOMA
Authors: MANSERGH FC KENNA PF AYUSO C KIANG S HUMPHRIES P FARRAR GJ
Citation: Fc. Mansergh et al., 2 NOVEL MUTATIONS IN THE TIGR GENE IN PRIMARY OPEN-ANGLE GLAUCOMA, American journal of human genetics, 61(4), 1997, pp. 1985-1985
3 STRATEGIES EXPLORED IN-VITRO FOR GENE-THERAPY OF DOMINANT AND POLYGENIC DISEASES
Authors: MILLINGTONWARD S ONEILL B ALJANDAL N TUOHY G KIANG S KENNA PF MANSERGH F PALFI A HAYDEN P KENNAN A HUMPHRIES P FARRAR GJ
Citation: S. Millingtonward et al., 3 STRATEGIES EXPLORED IN-VITRO FOR GENE-THERAPY OF DOMINANT AND POLYGENIC DISEASES, American journal of human genetics, 61(4), 1997, pp. 2092-2092
3 KERATIN GENE-MUTATIONS ACCOUNT FOR THE MAJORITY OF DOMINANT SIMPLEXEPIDERMOLYSIS-BULLOSA CASES WITHIN THE POPULATION OF IRELAND
Authors: HUMPHRIES MM MANSERGH FC KIANG AS JORDAN SA SHEILS DM MARTIN MJ FARRAR GJ KENNA PF YOUNG MM HUMPHRIES P
Citation: Mm. Humphries et al., 3 KERATIN GENE-MUTATIONS ACCOUNT FOR THE MAJORITY OF DOMINANT SIMPLEXEPIDERMOLYSIS-BULLOSA CASES WITHIN THE POPULATION OF IRELAND, Human mutation, 8(1), 1996, pp. 57-63
TREATMENT OF RETINOBLASTOMA ARISING IN TRANSGENIC MICE WITH A HSV-1 DELETION MUTANT VIRUS
Authors: MARTIN M ALBERT DM KENNEDY S BROWN M KENNA P WINDLE JJ BRANDT C MACLEAN AR HUMPHRIES P FARRAR GJ
Citation: M. Martin et al., TREATMENT OF RETINOBLASTOMA ARISING IN TRANSGENIC MICE WITH A HSV-1 DELETION MUTANT VIRUS, Cancer gene therapy, 3(6), 1996, pp. 42-42
AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA - A NEW MULTI-ALLELIC MARKER (D3S621) GENETICALLY LINKED TO THE DISEASE LOCUS (RP4) (VOL 86, PG 502, 1991)
Authors: KUMARSINGH R BRADLEY DG FARRAR GJ LAWLER M JORDAN SA HUMPHRIES P
Citation: R. Kumarsingh et al., AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA - A NEW MULTI-ALLELIC MARKER (D3S621) GENETICALLY LINKED TO THE DISEASE LOCUS (RP4) (VOL 86, PG 502, 1991), Human genetics, 96(4), 1995, pp. 502-502
AN IRISH PEDIGREE SEGREGATING RETINITIS-PIGMENTOSA AND DEAFNESS
Authors: KENNA PF MANSERGH F ERVEN ASW SINGH RK FARRAR GJ HUMPHRIES P
Citation: Pf. Kenna et al., AN IRISH PEDIGREE SEGREGATING RETINITIS-PIGMENTOSA AND DEAFNESS, Investigative ophthalmology & visual science, 36(4), 1995, pp. 1044-1044
PROGRESS IN GENETIC-LINKAGE FOR RETINITIS-PIGMENTOSA AND GENE DELIVERY TO OCULAR-TISSUES
Authors: FARRAR GJ KENNA PF MANSERGH F ERVEN ASW HUMPHRIES MM KENNEDY S SIEVING P BUSH R GULYA K HUMPHRIES P
Citation: Gj. Farrar et al., PROGRESS IN GENETIC-LINKAGE FOR RETINITIS-PIGMENTOSA AND GENE DELIVERY TO OCULAR-TISSUES, Investigative ophthalmology & visual science, 36(4), 1995, pp. 1045-1045
EVIDENCE FOR GENETIC-HETEROGENEITY IN BESTS VITELLIFORM MACULAR DYSTROPHY
Authors: MANSERGH FC KENNA PF RUDOLPH G MEITINGER T FARRAR GJ KUMARSINGH R SCORER J HALLY AM MYNETTJOHNSON L HUMPHRIES MM KIANG S HUMPHRIES P
Citation: Fc. Mansergh et al., EVIDENCE FOR GENETIC-HETEROGENEITY IN BESTS VITELLIFORM MACULAR DYSTROPHY, Journal of Medical Genetics, 32(11), 1995, pp. 855-858
NEW DIMENSIONS IN MACULAR DYSTROPHIES
Authors: HUMPHRIES P KENNA P FARRAR GJ
Citation: P. Humphries et al., NEW DIMENSIONS IN MACULAR DYSTROPHIES, Nature genetics, 8(4), 1994, pp. 315-317
3 SEQUENCE POLYMORPHISMS IN THE PDC GENE
Authors: MANSERGH FC JORDAN SA FARRAR GJ KUMARSINGH R GAL A BHATTACHARYA S HUMPHRIES P
Citation: Fc. Mansergh et al., 3 SEQUENCE POLYMORPHISMS IN THE PDC GENE, Human molecular genetics, 3(11), 1994, pp. 2077-2077
ASSIGNMENT OF A GENE FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA (RP12) TO CHROMOSOME 1Q31-Q32.1 IN AN INBRED AND GENETICALLY HETEROGENEOUS DISEASE POPULATION
Authors: VANSOEST S VANDENBORN LI GAL A FARRAR GJ BLEEKERWAGEMAKERS LM WESTERVELD A HUMPHRIES P SANDKUIJL LA BERGEN AAB
Citation: S. Vansoest et al., ASSIGNMENT OF A GENE FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA (RP12) TO CHROMOSOME 1Q31-Q32.1 IN AN INBRED AND GENETICALLY HETEROGENEOUS DISEASE POPULATION, Genomics, 22(3), 1994, pp. 499-504
CHARACTERIZATION AND MAPPING OF 4 HIGHLY POLYMORPHIC DINUCLEOTIDE REPEATS FLANKING THE D3F15S2 (PH3H2) LOCUS AND ENCOMPASSING THE COMMONLY DELETED REGION IN SPORADIC RENAL-CELL CARCINOMA
Authors: KUMARSINGH R FARRAR GJ JORDAN S HUMPRIES P
Citation: R. Kumarsingh et al., CHARACTERIZATION AND MAPPING OF 4 HIGHLY POLYMORPHIC DINUCLEOTIDE REPEATS FLANKING THE D3F15S2 (PH3H2) LOCUS AND ENCOMPASSING THE COMMONLY DELETED REGION IN SPORADIC RENAL-CELL CARCINOMA, Cytogenetics and cell genetics, 65(1-2), 1994, pp. 39-40
LINKAGE MAPPING OF THE RHODOPSIN GENE AND THE MICROSATELLITE MARKER D3S621
Authors: KUMARSINGH R FARRAR GJ JORDAN S HUMPHRIES P
Citation: R. Kumarsingh et al., LINKAGE MAPPING OF THE RHODOPSIN GENE AND THE MICROSATELLITE MARKER D3S621, Cytogenetics and cell genetics, 65(1-2), 1994, pp. 39-39
LOCALIZATION OF AN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA GENE TO CHROMOSOME-7Q
Authors: JORDAN SA FARRAR GJ KENNA P HUMPHRIES MM SHEILS DM KUMARSINGH R SHARP EM SORIANO N AYUSO C BENITEZ J HUMPHRIES P
Citation: Sa. Jordan et al., LOCALIZATION OF AN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA GENE TO CHROMOSOME-7Q, Nature genetics, 4(1), 1993, pp. 54-58
A MUTATION (MET-]ARG) IN THE TYPE-I KERATIN (K14) GENE RESPONSIBLE FOR AUTOSOMAL-DOMINANT EPIDERMOLYSIS-BULLOSA SIMPLEX
Authors: HUMPHRIES MM SHEILS DM FARRAR GJ KUMARSINGH R KENNA PF MANSERGH FC JORDAN SA YOUNG M HUMPHRIES P
Citation: Mm. Humphries et al., A MUTATION (MET-]ARG) IN THE TYPE-I KERATIN (K14) GENE RESPONSIBLE FOR AUTOSOMAL-DOMINANT EPIDERMOLYSIS-BULLOSA SIMPLEX, Human mutation, 2(1), 1993, pp. 37-42
EXCLUSION OF THE INVOLVEMENT OF ALL KNOWN RETINITIS-PIGMENTOSA LOCI IN THE DISEASE PRESENT IN A FAMILY OF IRISH ORIGIN PROVIDES EVIDENCE FOR A 6TH-AUTOSOMAL DOMINANT LOCUS (RP8)
Authors: KUMARSINGH R FARRAR GJ MANSERGH F KENNA P BHATTACHARYA S GAL A HUMPHRIES P
Citation: R. Kumarsingh et al., EXCLUSION OF THE INVOLVEMENT OF ALL KNOWN RETINITIS-PIGMENTOSA LOCI IN THE DISEASE PRESENT IN A FAMILY OF IRISH ORIGIN PROVIDES EVIDENCE FOR A 6TH-AUTOSOMAL DOMINANT LOCUS (RP8), Human molecular genetics, 2(7), 1993, pp. 875-878
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