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Results: << | 101-125 | 126-150 | 151-155
Results: 101-125/155
VARIABLE EXPRESSION OF RETINITIS-PIGMENTOSA IN PATIENTS WITH DIGENIC INHERITANCE OF PERIPHERIN RDS AND ROM-1 GENE-MUTATIONS/
Authors: JACOBSON SG CIDECIYAN AV BASCOM RA MCINNES RR SHEFFIELD VC STONE EM
Citation: Sg. Jacobson et al., VARIABLE EXPRESSION OF RETINITIS-PIGMENTOSA IN PATIENTS WITH DIGENIC INHERITANCE OF PERIPHERIN RDS AND ROM-1 GENE-MUTATIONS/, Investigative ophthalmology & visual science, 36(4), 1995, pp. 913-913
DOMINANT BULLS EYE MACULOPATHY - CLINICAL, PHYSIOLOGICAL, AND MOLECULAR ANALYSES OF A FAMILY
Authors: KOENEKOOP RK SUNNESS JS FINGERT JH STONE EM HUSSELS IEM
Citation: Rk. Koenekoop et al., DOMINANT BULLS EYE MACULOPATHY - CLINICAL, PHYSIOLOGICAL, AND MOLECULAR ANALYSES OF A FAMILY, Investigative ophthalmology & visual science, 36(4), 1995, pp. 925-925
NO EVIDENCE FOR A CAUSAL RELATIONSHIP BETWEEN A MITOCHONDRIAL POLYMORPHISM AT POSITION 15257 AND MACULAR DISEASE
Authors: STONE EM WOOD JL BUTLER NS WILES CD
Citation: Em. Stone et al., NO EVIDENCE FOR A CAUSAL RELATIONSHIP BETWEEN A MITOCHONDRIAL POLYMORPHISM AT POSITION 15257 AND MACULAR DISEASE, Investigative ophthalmology & visual science, 36(4), 1995, pp. 1065-1065
LINKAGE OF AUTOSOMAL-DOMINANT IRIS HYPOPLASIA TO THE RIEGER SYNDROME LOCUS (4Q25)
Authors: HEON E SHETH BP KALENAK JW SUNDEN SLF STREB LM TAYLOR CM MUNDEN P ALWARD WLM SHEFFIELD VL STONE EM
Citation: E. Heon et al., LINKAGE OF AUTOSOMAL-DOMINANT IRIS HYPOPLASIA TO THE RIEGER SYNDROME LOCUS (4Q25), Vision research, 35, 1995, pp. 3127-3127
GENETIC-LINKAGE OF WAGNER DISEASE AND EROSIVE VITREORETINOPATHY TO CHROMOSOME 5Q13-14
Authors: BROWN DM GRAEMIGER RA HERGERSBERG M SCHINZEL A MESSMER EP NIEMEYER G SCHNEEBERGER SA STREB LM TAYLOR CM KIMURA AE WEINGEIST TA SHEFFIELD C STONE EM
Citation: Dm. Brown et al., GENETIC-LINKAGE OF WAGNER DISEASE AND EROSIVE VITREORETINOPATHY TO CHROMOSOME 5Q13-14, Archives of ophthalmology, 113(5), 1995, pp. 671-675
RETINITIS-PIGMENTOSA ASSOCIATED WITH A DOMINANT MUTATION IN CODON-46 OF THE PERIPHERIN RDS GENE (ARGININE-46-STOP)/
Authors: LAM BL VANDENBURGH K SHEFFIELD VC STONE EM
Citation: Bl. Lam et al., RETINITIS-PIGMENTOSA ASSOCIATED WITH A DOMINANT MUTATION IN CODON-46 OF THE PERIPHERIN RDS GENE (ARGININE-46-STOP)/, American journal of ophthalmology, 119(1), 1995, pp. 65-71
GENETIC AND PHYSICAL FINE-MAPPING OF THE HETEROGENEOUS BARDET-BIEDL SYNDROME
Authors: KWITEKBLACK AW HAIDER N CARMI R DOGGETT N CHARLAT O NISHIMURA DY STONE EM SHEFFIELD VC
Citation: Aw. Kwitekblack et al., GENETIC AND PHYSICAL FINE-MAPPING OF THE HETEROGENEOUS BARDET-BIEDL SYNDROME, American journal of human genetics, 57(4), 1995, pp. 294-294
HOMOZYGOSITY MAPPING OF A BARDET-BIEDL SYNDROME GENE IN INBRED FAMILIES OF PUERTO-RICAN ANCESTRY CONFIRMS THE EXISTENCE OF A CHROMOSOME-11 LOCUS
Authors: CORNIER AS FULTON AB ROKHLINA T NISHIMURA D STONE EM SHEFFIELD VC WHITEMAN DAH COX GF
Citation: As. Cornier et al., HOMOZYGOSITY MAPPING OF A BARDET-BIEDL SYNDROME GENE IN INBRED FAMILIES OF PUERTO-RICAN ANCESTRY CONFIRMS THE EXISTENCE OF A CHROMOSOME-11 LOCUS, American journal of human genetics, 57(4), 1995, pp. 1086-1086
LINKAGE OF AUTOSOMAL-DOMINANT IRIS HYPOPLASIA TO THE RIEGER SYNDROME LOCUS (4Q25)
Authors: HEON E SHETH BP KALENAK JW SUNDEN SLF STREB LM TAYLOR CM MUNDEN P ALWARD WLM SHEFFIELD VC STONE EM
Citation: E. Heon et al., LINKAGE OF AUTOSOMAL-DOMINANT IRIS HYPOPLASIA TO THE RIEGER SYNDROME LOCUS (4Q25), American journal of human genetics, 57(4), 1995, pp. 1108-1108
USE OF DNA POOLING STRATEGIES FOR MAPPING DOMINANT DISORDERS AND THE POTENTIAL APPLICATION TO MAPPING COMPLEX DISEASES
Authors: KANIS AB BECK JS ROKHLINA T TCHIDA C STONE EM SHEFFIELD VC
Citation: Ab. Kanis et al., USE OF DNA POOLING STRATEGIES FOR MAPPING DOMINANT DISORDERS AND THE POTENTIAL APPLICATION TO MAPPING COMPLEX DISEASES, American journal of human genetics, 57(4), 1995, pp. 1119-1119
ISOLATION AND CHARACTERIZATION OF GENES FROM HUMAN NEURAL RETINA
Authors: NISHIMURA DY SOARES MB BONALDO MD NISHIMURA CJ MATTES G MORRISON B STONE EM SHEFFIELD VC
Citation: Dy. Nishimura et al., ISOLATION AND CHARACTERIZATION OF GENES FROM HUMAN NEURAL RETINA, American journal of human genetics, 57(4), 1995, pp. 1143-1143
PHYSICAL AND GENETIC FINE MAPPING OF THE JUVENILE OPEN-ANGLE GLAUCOMAREGION (1Q21-Q31)
Authors: SUNDEN SLF NICHOLS BE ALWARD WLM NISHIMURA DY STONE EM SHEFFIELD VC
Citation: Slf. Sunden et al., PHYSICAL AND GENETIC FINE MAPPING OF THE JUVENILE OPEN-ANGLE GLAUCOMAREGION (1Q21-Q31), American journal of human genetics, 57(4), 1995, pp. 1174-1174
MOLECULAR CHARACTERIZATION OF CHROMOSOMAL-ANOMALIES IN 2 PATIENTS INDICATE THAT A GENE CAUSING CONGENITAL GLAUCOMA MAPS TO A 5 CM REGION ON6P25
Authors: ALWARD WLM NISHIMURA DY PATIL S STONE EM SHEFFIELD VC
Citation: Wlm. Alward et al., MOLECULAR CHARACTERIZATION OF CHROMOSOMAL-ANOMALIES IN 2 PATIENTS INDICATE THAT A GENE CAUSING CONGENITAL GLAUCOMA MAPS TO A 5 CM REGION ON6P25, American journal of human genetics, 57(4), 1995, pp. 1482-1482
MALATTIA-LEVANTINESE - EXCLUSION OF KNOWN DISEASE-CAUSING GENES ASSOCIATED WITH MACULAR DYSTROPHIES
Authors: MUNIER FL PIGUET B HEON E PESCIA G SHEFFIELD VL SCHRODERET DF STONE EM
Citation: Fl. Munier et al., MALATTIA-LEVANTINESE - EXCLUSION OF KNOWN DISEASE-CAUSING GENES ASSOCIATED WITH MACULAR DYSTROPHIES, American journal of human genetics, 57(4), 1995, pp. 1931-1931
NONSYNDROMIC AUTOSOMAL RECESSIVE DEAFNESS IS LINKED TO THE DFNB1 LOCUS IN A LARGE INBRED BEDOUIN FAMILY FROM ISRAEL
Authors: SCOTT DA CARMI R ELBEDOUR K DUYK GM STONE EM SHEFFIELD VC
Citation: Da. Scott et al., NONSYNDROMIC AUTOSOMAL RECESSIVE DEAFNESS IS LINKED TO THE DFNB1 LOCUS IN A LARGE INBRED BEDOUIN FAMILY FROM ISRAEL, American journal of human genetics, 57(4), 1995, pp. 965-968
3 AUTOSOMAL-DOMINANT CORNEAL DYSTROPHIES MAP TO CHROMOSOME-5Q
Authors: STONE EM MATHERS WD ROSENWASSER GOD HOLLAND EJ FOLBERG R KRACHMER JH NICHOLS BE GOREVIC PD TAYLOR CM STREB LM FISHBAUGH JA DALEY TE SUCHESKI BM SHEFFIELD VC
Citation: Em. Stone et al., 3 AUTOSOMAL-DOMINANT CORNEAL DYSTROPHIES MAP TO CHROMOSOME-5Q, Nature genetics, 6(1), 1994, pp. 47-51
IDENTIFICATION OF A BARDET-BIEDL-SYNDROME LOCUS ON CHROMOSOME-3 AND EVALUATION OF AN EFFICIENT APPROACH TO HOMOZYGOSITY MAPPING
Authors: SHEFFIELD VC CARMI R KWITEKBLACK A ROKHLINA T NISHIMURA D DUYK GM ELBEDOUR K SUNDEN SL STONE EM
Citation: Vc. Sheffield et al., IDENTIFICATION OF A BARDET-BIEDL-SYNDROME LOCUS ON CHROMOSOME-3 AND EVALUATION OF AN EFFICIENT APPROACH TO HOMOZYGOSITY MAPPING, Human molecular genetics, 3(8), 1994, pp. 1331-1335
EROSIVE VITREORETINOPATHY - A NEW CLINICAL ENTITY
Authors: BROWN DM KIMURA AE WEINGEIST TA STONE EM
Citation: Dm. Brown et al., EROSIVE VITREORETINOPATHY - A NEW CLINICAL ENTITY, Ophthalmology, 101(4), 1994, pp. 694-704
RDS GENE-MUTATIONS CAUSING RETINITIS-PIGMENTOSA OR MACULAR DEGENERATION LEAD TO THE SAME ABNORMALITY IN PHOTORECEPTOR FUNCTION
Authors: KEMP CM JACOBSON SG CIDECIYAN AV KIMURA AE SHEFFIELD VC STONE EM
Citation: Cm. Kemp et al., RDS GENE-MUTATIONS CAUSING RETINITIS-PIGMENTOSA OR MACULAR DEGENERATION LEAD TO THE SAME ABNORMALITY IN PHOTORECEPTOR FUNCTION, Investigative ophthalmology & visual science, 35(8), 1994, pp. 3154-3162
DEVELOPMENT OF TRI-NUCLEOTIDE AND TETRA-NUCLEOTIDE REPEAT MARKER SCREENING SETS FOR EFFICIENT LINKAGE MAPPING OF HEREDITARY EYE DISEASES
Authors: SUNDEN SLF STONE EM BECK JC DUYK GM MURRAY JC WEBER JL BUETOW KH SHEFFIELD VC
Citation: Slf. Sunden et al., DEVELOPMENT OF TRI-NUCLEOTIDE AND TETRA-NUCLEOTIDE REPEAT MARKER SCREENING SETS FOR EFFICIENT LINKAGE MAPPING OF HEREDITARY EYE DISEASES, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1312-1312
FINE MAPPING OF THE PRIMARY OPEN-ANGLE GLAUCOMA LOCUS ON CHROMOSOME-1
Authors: NICHOLS BE ALWARD WLM RITCH R STREB LM TAYLOR CM SUNDEN SLF SHEFFIELD VC STONE EM
Citation: Be. Nichols et al., FINE MAPPING OF THE PRIMARY OPEN-ANGLE GLAUCOMA LOCUS ON CHROMOSOME-1, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1470-1470
RDS GENE-MUTATIONS CAUSING EITHER MACULAR DEGENERATION OR RETINITIS-PIGMENTOSA LEAD TO SIMILAR ABNORMALITIES OF DARK-ADAPTATION
Authors: KEMP CM JACOBSON SG CIDECIYAN AV KIMURA AE SHEFFIELD VC STONE EM
Citation: Cm. Kemp et al., RDS GENE-MUTATIONS CAUSING EITHER MACULAR DEGENERATION OR RETINITIS-PIGMENTOSA LEAD TO SIMILAR ABNORMALITIES OF DARK-ADAPTATION, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1478-1478
SPECTRUM OF FUNCTIONAL PHENOTYPES IN RDS GENE-MUTATIONS
Authors: JACOBSON SG KEMP CM CIDECIYAN AV SUN XK VANDENBURGH K SHEFFIELD VC STONE EM
Citation: Sg. Jacobson et al., SPECTRUM OF FUNCTIONAL PHENOTYPES IN RDS GENE-MUTATIONS, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1479-1479
THE RELATIONSHIP BETWEEN GRANULAR LATTICE TYPE-1 AND AVELLINO CORNEALDYSTROPHIES
Authors: FOLBERG R STONE EM MATHERS WD SHEFFIELD VC
Citation: R. Folberg et al., THE RELATIONSHIP BETWEEN GRANULAR LATTICE TYPE-1 AND AVELLINO CORNEALDYSTROPHIES, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1565-1565
INCIDENCE OF FRAMESHIFT MUTATIONS IN THE PROCOLLAGEN II GENE IN STICKLER SYNDROME AND IDENTIFICATION OF 4 NEW MUTATIONS
Authors: BROWN DM VANDENBURGH K NICHOLS BE KIMURA AE WEINGEIST TA SHEFFIELD VC STONE EM
Citation: Dm. Brown et al., INCIDENCE OF FRAMESHIFT MUTATIONS IN THE PROCOLLAGEN II GENE IN STICKLER SYNDROME AND IDENTIFICATION OF 4 NEW MUTATIONS, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1717-1717
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