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Results: 1-15 |
Results: 15
ALLELIC VARIATION IN ABCR ASSOCIATED WITH STARGARDT-DISEASE BUT NOT AGE-RELATED MACULAR DEGENERATION
Authors: STONE EM WEBSTER AR VANDENBURGH K STREB LM HOCKEY RR LOTERY AJ SHEFFIELD VC
Citation: Em. Stone et al., ALLELIC VARIATION IN ABCR ASSOCIATED WITH STARGARDT-DISEASE BUT NOT AGE-RELATED MACULAR DEGENERATION, Nature genetics, 20(4), 1998, pp. 328-329
THE PHENOTYPE OF PRIMARY OPEN-ANGLE GLAUCOMA PATIENT WITH MUTATIONS IN THE GLC1A GENE
Authors: ALWARD WLM FINGERT JH JOHNSON AT KWON YH HAYREH SS LOVE TM VANDENBURGH K SHEFFIELD VC STONE EM
Citation: Wlm. Alward et al., THE PHENOTYPE OF PRIMARY OPEN-ANGLE GLAUCOMA PATIENT WITH MUTATIONS IN THE GLC1A GENE, Investigative ophthalmology & visual science, 38(4), 1997, pp. 4335-4335
NIGHT BLINDNESS IN SORSBYS-FUNDUS-DYSTROPHY REVERSED BY VITAMIN-A
Authors: JACOBSON SG CIDECIYAN AV REGUNATH G RODRIGUEZ FJ VANDENBURGH K SHEFFIELD VC STONE EM
Citation: Sg. Jacobson et al., NIGHT BLINDNESS IN SORSBYS-FUNDUS-DYSTROPHY REVERSED BY VITAMIN-A, Nature genetics, 11(1), 1995, pp. 27-32
NOVEL FRAMESHIFT MUTATIONS IN THE PROCOLLAGEN-2 GENE (COL2A1) ASSOCIATED WITH STICKLER SYNDROME (HEREDITARY ARTHROOPHTHALMOPATHY)
Authors: BROWN DM VANDENBURGH K KIMURA AE WEINGEIST TA SHEFFIELD VC STONE EM
Citation: Dm. Brown et al., NOVEL FRAMESHIFT MUTATIONS IN THE PROCOLLAGEN-2 GENE (COL2A1) ASSOCIATED WITH STICKLER SYNDROME (HEREDITARY ARTHROOPHTHALMOPATHY), Human molecular genetics, 4(1), 1995, pp. 141-142
3 FAMILIES AFFECTED WITH A RAPIDLY PROGRESSIVE SEVERE FORM OF AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ASSOCIATED WITH MUTATIONS IN CODON-347 OF THE RHODOPSIN GENE (PRO-347-ALA AND PRO-347-GLN)
Authors: BROWN J WELEBER RG KIMURA AE VANDENBURGH K SHEFFIELD VC STONE EM
Citation: J. Brown et al., 3 FAMILIES AFFECTED WITH A RAPIDLY PROGRESSIVE SEVERE FORM OF AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ASSOCIATED WITH MUTATIONS IN CODON-347 OF THE RHODOPSIN GENE (PRO-347-ALA AND PRO-347-GLN), Investigative ophthalmology & visual science, 36(4), 1995, pp. 825-825
HUMAN AND MOUSE GCAP GENES AND INVOLVEMENT OF GCAP GENE-MUTATIONS IN HUMAN-DISEASE
Authors: BAEHR W SUBBARAYA I DANG YL RUIZ C HELEKAR B BANERJEE P KNOWLES JA GILLIAM TC VANDENBURGH K STONE EM
Citation: W. Baehr et al., HUMAN AND MOUSE GCAP GENES AND INVOLVEMENT OF GCAP GENE-MUTATIONS IN HUMAN-DISEASE, Investigative ophthalmology & visual science, 36(4), 1995, pp. 826-826
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
CLINICAL-FEATURES OF A PREVIOUSLY UNDESCRIBED CODON-216 (PROLINE TO SERINE) MUTATION IN THE PERIPHERIN RETINAL DEGENERATION SLOW GENE IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA/
Authors: FISHMAN GA STONE E GILBERT LD VANDENBURGH K SHEFFIELD VC HECKENLIVELY JR
Citation: Ga. Fishman et al., CLINICAL-FEATURES OF A PREVIOUSLY UNDESCRIBED CODON-216 (PROLINE TO SERINE) MUTATION IN THE PERIPHERIN RETINAL DEGENERATION SLOW GENE IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA/, Ophthalmology, 101(8), 1994, pp. 1409-1421
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
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
OCULAR FINDINGS ASSOCIATED WITH A CYS39ARG MUTATION IN THE NORRIE DISEASE GENE
Authors: JOOS KM KIMURA AE VANDENBURGH K BARTLEY JA STONE EM
Citation: Km. Joos et al., OCULAR FINDINGS ASSOCIATED WITH A CYS39ARG MUTATION IN THE NORRIE DISEASE GENE, Archives of ophthalmology, 112(12), 1994, pp. 1574-1579
A 2-BASE PAIR DELETION IN THE RDS GENE ASSOCIATED WITH BUTTERFLY-SHAPED PIGMENT DYSTROPHY OF THE FOVEA (VOL 2, PG 601, 1993)
Authors: NICHOLS BE DRACK AV VANDENBURGH K KIMURA AE SHEFFIELD VC STONE EM
Citation: Be. Nichols et al., A 2-BASE PAIR DELETION IN THE RDS GENE ASSOCIATED WITH BUTTERFLY-SHAPED PIGMENT DYSTROPHY OF THE FOVEA (VOL 2, PG 601, 1993), Human molecular genetics, 2(8), 1993, pp. 1347-1347
A 2 BASE-PAIR DELETION IN THE RDS GENE ASSOCIATED WITH BUTTERFLY-SHAPED PIGMENT DYSTROPHY OF THE FOVEA
Authors: NICHOLS BE DRACK AV VANDENBURGH K KIMURA AE SHEFFIELD VC STONE EM
Citation: Be. Nichols et al., A 2 BASE-PAIR DELETION IN THE RDS GENE ASSOCIATED WITH BUTTERFLY-SHAPED PIGMENT DYSTROPHY OF THE FOVEA, Human molecular genetics, 2(5), 1993, pp. 601-603
MUTATIONS IN THE RDS PERIPHERIN GENE CAUSE WIDELY DIFFERENT PHENOTYPES BETWEEN AND WITHIN AFFECTED FAMILIES
Authors: STONE EM NICHOLS BE KIMURA AE WELEBER RG GORIN MB FISHMAN GA JACOBSON SG GASS JDM DRACK AV VANDENBURGH K SHEFFIELD VC
Citation: Em. Stone et al., MUTATIONS IN THE RDS PERIPHERIN GENE CAUSE WIDELY DIFFERENT PHENOTYPES BETWEEN AND WITHIN AFFECTED FAMILIES, American journal of human genetics, 53(3), 1993, pp. 14-14
GENETIC MUTATIONS AT THE C-TERMINAL END OF THE PROCOLLAGEN-II GENE INSTICKLER SYNDROME (HEREDITARY ARTHROOPHTHALMOPATHY) AND IDENTIFICATION AND PHENOTYPIC DESCRIPTION OF A NEW MUTATION
Authors: BROWN DM VANDENBURGH K NICHOLS BE ERHART AR KIMURA AE WEINGEIST TA SHEFFIELD VC STONE EM
Citation: Dm. Brown et al., GENETIC MUTATIONS AT THE C-TERMINAL END OF THE PROCOLLAGEN-II GENE INSTICKLER SYNDROME (HEREDITARY ARTHROOPHTHALMOPATHY) AND IDENTIFICATION AND PHENOTYPIC DESCRIPTION OF A NEW MUTATION, American journal of human genetics, 53(3), 1993, pp. 1133-1133
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