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Results: 1-25 | 26-50 | 51-62
Results: 1-25/62
OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM
Authors: SCHNUR RE GAO M WICK PA KELLER M BENKE PJ EDWARDS MJ GRIX AW HOCKEY A JUNG JH KIDD KK KISTENMACHER M LEVIN AV LEWIS RA MUSARELLA MA NOWAKOWSKI RW ORLOW SJ PAGON RS PILLERS DAM PUNNETT HH QUINN GE TEZCAN K WAGSTAFF J WELEBER RG
Citation: Re. Schnur et al., OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM, American journal of human genetics, 62(4), 1998, pp. 800-809
EVIDENCE FOR GENETIC-HETEROGENEITY IN X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS
Authors: BOYCOTT KM PEARCE WG MUSARELLA MA WELEBER RG MAYBAUM TA BIRCH DG MIYAKE Y YOUNG RSL BECHHANSEN NT
Citation: Km. Boycott et al., EVIDENCE FOR GENETIC-HETEROGENEITY IN X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS, American journal of human genetics, 62(4), 1998, pp. 865-875
MICROCEPHALY WITH CHORIORETINAL DEGENERATION
Authors: ATCHANEEYASAKUL LO LINCK L WELEBER RG
Citation: Lo. Atchaneeyasakul et al., MICROCEPHALY WITH CHORIORETINAL DEGENERATION, Ophthalmic genetics, 19(1), 1998, pp. 39-48
DUCHENNE BECKER MUSCULAR-DYSTROPHY - CORRELATION OF PHENOTYPE BY ELECTRORETINOGRAPHY WITH SITES OF DMD MUTATIONS/
Authors: PILLERS DM WELEBER RG
Citation: Dm. Pillers et Rg. Weleber, DUCHENNE BECKER MUSCULAR-DYSTROPHY - CORRELATION OF PHENOTYPE BY ELECTRORETINOGRAPHY WITH SITES OF DMD MUTATIONS/, Journal of investigative medicine, 46(1), 1998, pp. 86-86
LOCALIZATION OF DYSTROPHIN ISOFORM DP71 TO THE INNER LIMITING MEMBRANE OF THE RETINA SUGGESTS A UNIQUE FUNCTIONAL CONTRIBUTION OF DP71 IN THE RETINA
Authors: HOWARD PL DALLY GY WONG MH HO A WELEBER RG PILLERS DM RAY PN
Citation: Pl. Howard et al., LOCALIZATION OF DYSTROPHIN ISOFORM DP71 TO THE INNER LIMITING MEMBRANE OF THE RETINA SUGGESTS A UNIQUE FUNCTIONAL CONTRIBUTION OF DP71 IN THE RETINA, Human molecular genetics (Print), 7(9), 1998, pp. 1385-1391
AUTOSOMAL-DOMINANT CONGENITAL CATARACT ASSOCIATED WITH A MISSENSE MUTATION IN THE HUMAN ALPHA-CRYSTALLIN GENE CRYAA
Authors: LITT M KRAMER P LAMORTICELLA DM MURPHEY W LOVRIEN EW WELEBER RG
Citation: M. Litt et al., AUTOSOMAL-DOMINANT CONGENITAL CATARACT ASSOCIATED WITH A MISSENSE MUTATION IN THE HUMAN ALPHA-CRYSTALLIN GENE CRYAA, Human molecular genetics, 7(3), 1998, pp. 471-474
THE DYSTROPHIC RETINA IN MULTISYSTEM DISORDER - THE ELECTRORETINOGRAMIN NEURONAL CEROID-LIPOFUSCINOSES
Authors: WELEBER RG
Citation: Rg. Weleber, THE DYSTROPHIC RETINA IN MULTISYSTEM DISORDER - THE ELECTRORETINOGRAMIN NEURONAL CEROID-LIPOFUSCINOSES, Eye, 12, 1998, pp. 580-590
AGE-RELATED MACULAR DEGENERATION - CLINICAL-FEATURES IN A LARGE FAMILY AND LINKAGE TO CHROMOSOME 1Q
Authors: KLEIN ML SCHULTZ DW EDWARDS A MATISE TC RUST K BERSELLI CB TRZUPEK K WELEBER RG OTT J WIRTZ MK ACOTT TS
Citation: Ml. Klein et al., AGE-RELATED MACULAR DEGENERATION - CLINICAL-FEATURES IN A LARGE FAMILY AND LINKAGE TO CHROMOSOME 1Q, Archives of ophthalmology, 116(8), 1998, pp. 1082-1088
MALATTIA LEVENTINESE - REFINEMENT OF THE GENETIC-LOCUS AND PHENOTYPICVARIABILITY IN AUTOSOMAL-DOMINANT MACULAR DRUSEN
Authors: EDWARDS AO KLEIN ML BERSELLI CB HEJTMANCIK JF RUST K WIRTZ MK WELEBER RG ACOTT TS
Citation: Ao. Edwards et al., MALATTIA LEVENTINESE - REFINEMENT OF THE GENETIC-LOCUS AND PHENOTYPICVARIABILITY IN AUTOSOMAL-DOMINANT MACULAR DRUSEN, American journal of ophthalmology, 126(3), 1998, pp. 417-424
AN EYE FOR AN EYE - NEW MODELS OF GENETIC OCULAR DISEASE
Authors: GREGORYEVANS K WELEBER RG
Citation: K. Gregoryevans et Rg. Weleber, AN EYE FOR AN EYE - NEW MODELS OF GENETIC OCULAR DISEASE, Nature biotechnology, 15(10), 1997, pp. 947-948
NOVEL MUTATIONS OF THE TYROSINASE (TYR) GENE IN TYPE-I OCULOCUTANEOUSALBINISM (OCA1)
Authors: SPRITZ RA OH J FUKAI K HOLMES SA HO LL CHITAYAT D FRANCE TD MUSARELLA MA ORLOW SJ SCHNUR RE WELEBER RG LEVIN AV
Citation: Ra. Spritz et al., NOVEL MUTATIONS OF THE TYROSINASE (TYR) GENE IN TYPE-I OCULOCUTANEOUSALBINISM (OCA1), Human mutation, 10(2), 1997, pp. 171-174
NOVEL MUTATIONS OF THE P-GENE IN TYPE-II OCULOCUTANEOUS ALBINISM (OCA2)
Authors: SPRITZ RA LEE ST FUKAI K BRONDUMNIELSEN K CHITAYAT D LIPSON MH MUSARELLA MA ROSENMANN A WELEBER RG
Citation: Ra. Spritz et al., NOVEL MUTATIONS OF THE P-GENE IN TYPE-II OCULOCUTANEOUS ALBINISM (OCA2), Human mutation, 10(2), 1997, pp. 175-177
GYRATE ATROPHY-LIKE PHENOTYPE WITH NORMAL PLASMA ORNITHINE
Authors: KELLNER U WELEBER RG KENNAWAY NG FISHMAN GA FOERSTER MH
Citation: U. Kellner et al., GYRATE ATROPHY-LIKE PHENOTYPE WITH NORMAL PLASMA ORNITHINE, Retina, 17(5), 1997, pp. 403-413
DISCRETE EXPRESSION AND DISTRIBUTION PATTERN OF TIMP-3 IN THE HUMAN RETINA AND CHOROID
Authors: VRANKA JA JOHNSON E ZHU XH SHEPARDSON A ALEXANDER JP BRADLEY JMB WIRTZ MK WELEBER RG KLEIN ML ACOTT TS
Citation: Ja. Vranka et al., DISCRETE EXPRESSION AND DISTRIBUTION PATTERN OF TIMP-3 IN THE HUMAN RETINA AND CHOROID, Current eye research, 16(2), 1997, pp. 102-110
TIMP3 EXPRESSION BY SORSBYS FUNDUS DYSTROPHY FIBROBLASTS
Authors: ZHU XH VRANKA JA COLVIS CM ALEXANDER JP BRADLEY JMB JACOBSON SG WELEBER RG KLEIN ML ACOTT TS
Citation: Xh. Zhu et al., TIMP3 EXPRESSION BY SORSBYS FUNDUS DYSTROPHY FIBROBLASTS, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3713-3713
STRUCTURE OF THE HUMAN GENE ENCODING THE BETA-3-SUBUNIT OF CONE TRANSDUCIN AND EXON SCREENING IN PATIENTS WITH CONE DISEASE
Authors: GAO YQ ZHAO DY DANCIGER M AKHMEDOV NB HECKENLIVELY JH WELEBER RG JACOBSON SG FISHMAN GA FARBER DB
Citation: Yq. Gao et al., STRUCTURE OF THE HUMAN GENE ENCODING THE BETA-3-SUBUNIT OF CONE TRANSDUCIN AND EXON SCREENING IN PATIENTS WITH CONE DISEASE, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3716-3716
SCREENING FOR MUTATIONS IN THE GENES ENCODING THE 3 SUBUNITS OF ROD CGMP-PDE IN SMALL ARRP FAMILIES
Authors: DANCIGER M HECKENLIVELY JR WELEBER RG SIEVING PA JACOBSON SG FARBER DB
Citation: M. Danciger et al., SCREENING FOR MUTATIONS IN THE GENES ENCODING THE 3 SUBUNITS OF ROD CGMP-PDE IN SMALL ARRP FAMILIES, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3720-3720
REFINEMENT OF THE LOCUS FOR MALATTIA LEVENTINESE - AN AUTOSOMAL-DOMINANT FORM OF MACULAR DEGENERATION WITH A RADIAL DRUSEN PHENOTYPE
Authors: EDWARDS A KLEIN ML BERSELLI CB WELEBER RG RUST K WIRTZ MK HEJTMANCIK JF ACOTT TS
Citation: A. Edwards et al., REFINEMENT OF THE LOCUS FOR MALATTIA LEVENTINESE - AN AUTOSOMAL-DOMINANT FORM OF MACULAR DEGENERATION WITH A RADIAL DRUSEN PHENOTYPE, Investigative ophthalmology & visual science, 38(4), 1997, pp. 5342-5342
COMPARISON OF CLINICAL FINDINGS, VISUAL-FIELDS, AND ELECTRORETINOGRAMRESPONSES BETWEEN PATIENTS WITH TYPE-I AND TYPE-II USHER-SYNDROME
Authors: ATCHANEEYASAKUL L WELEBER RG
Citation: L. Atchaneeyasakul et Rg. Weleber, COMPARISON OF CLINICAL FINDINGS, VISUAL-FIELDS, AND ELECTRORETINOGRAMRESPONSES BETWEEN PATIENTS WITH TYPE-I AND TYPE-II USHER-SYNDROME, Investigative ophthalmology & visual science, 38(4), 1997, pp. 1458-1458
TISSUE DISTRIBUTION AND SPLICING PATTERNS OF RETINAL DYSTROPHIN (DP260) AND EXPRESSION OF DYSTROPHIN MESSENGER-RNA ISOFORMS IN MOUSE RETINA
Authors: PILLERS DM DUNCAN NM TOKARZ S DEWAN AK FUOOD G BUNGER MK RASH SM WOODWARD WR WELEBER RG
Citation: Dm. Pillers et al., TISSUE DISTRIBUTION AND SPLICING PATTERNS OF RETINAL DYSTROPHIN (DP260) AND EXPRESSION OF DYSTROPHIN MESSENGER-RNA ISOFORMS IN MOUSE RETINA, Investigative ophthalmology & visual science, 38(4), 1997, pp. 1511-1511
SPERM ABNORMALITIES IN RETINITIS-PIGMENTOSA
Authors: CONNOR WE WELEBER RG DEFRANCESCO C LIN DS WOLF DP
Citation: We. Connor et al., SPERM ABNORMALITIES IN RETINITIS-PIGMENTOSA, Investigative ophthalmology & visual science, 38(12), 1997, pp. 2619-2628
X-LINKED RETINITIS-PIGMENTOSA ASSOCIATED WITH A 2-BASE PAIR INSERTIONIN CODON-99 OF THE RP3 GENE RPGR
Authors: WELEBER RG BUTLER NS MURPHEY WH SHEFFIELD VC STONE EM
Citation: Rg. Weleber et al., X-LINKED RETINITIS-PIGMENTOSA ASSOCIATED WITH A 2-BASE PAIR INSERTIONIN CODON-99 OF THE RP3 GENE RPGR, Archives of ophthalmology, 115(11), 1997, pp. 1429-1435
SYSTEMATIC OPHTHALMOLOGIC EXAMINATION IN 6 PATIENTS AND A SPONTANEOUSLY ABORTED FETUS WITH SMITH-LEMLI-OPITZ-SYNDROME
Authors: ATCHANEEYASAKUL L LINCK LM CONNOR WE WELEBER RG STEINER RD
Citation: L. Atchaneeyasakul et al., SYSTEMATIC OPHTHALMOLOGIC EXAMINATION IN 6 PATIENTS AND A SPONTANEOUSLY ABORTED FETUS WITH SMITH-LEMLI-OPITZ-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 503-503
EVIDENCE FOR GENETIC-HETEROGENEITY IN X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS
Authors: BECHHANSEN NT PEARCE WG MUSARELLA MA WELEBER RG MAYBAUM TA BIRCH DG MIYAKE Y BOYCOTT KM
Citation: Nt. Bechhansen et al., EVIDENCE FOR GENETIC-HETEROGENEITY IN X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS, American journal of human genetics, 61(4), 1997, pp. 1339-1339
2 PAIRS OF SEQUENCE VARIANTS IN THE GENE ENCODING THE ALPHA-SUBUNIT OF ROD CGMP-PDE - ONE PAIR HAS POSSIBLE PATHOLOGICAL SIGNIFICANCE AND THE OTHER REVEALS A EUROPEAN FOUNDER
Authors: DANCIGER M HECKENLIVELY JR WELEBER RG SIEVING PA FISHMAN GA JACOBSON SG FARBER DB
Citation: M. Danciger et al., 2 PAIRS OF SEQUENCE VARIANTS IN THE GENE ENCODING THE ALPHA-SUBUNIT OF ROD CGMP-PDE - ONE PAIR HAS POSSIBLE PATHOLOGICAL SIGNIFICANCE AND THE OTHER REVEALS A EUROPEAN FOUNDER, American journal of human genetics, 61(4), 1997, pp. 1932-1932
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