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Results: 1-20 |
Results: 20
A RANGE OF CLINICAL PHENOTYPES ASSOCIATED WITH MUTATIONS IN CRX, A PHOTORECEPTOR TRANSCRIPTION-FACTOR GENE
Authors: SOHOCKI MM SULLIVAN LS MINTZHITTNER HA BIRCH D HECKENLIVELY JR FREUND CL MCINNES RR DAIGER SP
Citation: Mm. Sohocki et al., A RANGE OF CLINICAL PHENOTYPES ASSOCIATED WITH MUTATIONS IN CRX, A PHOTORECEPTOR TRANSCRIPTION-FACTOR GENE, American journal of human genetics, 63(5), 1998, pp. 1307-1315
LINKAGE MAPPING OF THIEL-BEHNKE CORNEAL-DYSTROPHY (CDB2) TO CHROMOSOME 10Q23-Q24
Authors: YEE RW SULLIVAN LS LAI HT STOCK EL LU YH KHAN MN BLANTON SH DAIGER SP
Citation: Rw. Yee et al., LINKAGE MAPPING OF THIEL-BEHNKE CORNEAL-DYSTROPHY (CDB2) TO CHROMOSOME 10Q23-Q24, Genomics, 46(1), 1997, pp. 152-154
HUMAN GLUTAMATE PYRUVATE TRANSAMINASE (GPT) - LOCALIZATION TO 8Q24.3,CDNA AND GENOMIC SEQUENCES, AND POLYMORPHIC SITES
Authors: SOHOCKI MM SULLIVAN LS HARRISON WR SODERGREN EJ ELDER FFB WEINSTOCK G TANASE S DAIGER SP
Citation: Mm. Sohocki et al., HUMAN GLUTAMATE PYRUVATE TRANSAMINASE (GPT) - LOCALIZATION TO 8Q24.3,CDNA AND GENOMIC SEQUENCES, AND POLYMORPHIC SITES, Genomics, 40(2), 1997, pp. 247-252
EXCLUSION OF ATYPICAL VITELLIFORM MACULAR DYSTROPHY (VMD1) FROM 8Q24 AND FROM OTHER KNOWN LOCI FOR AUTOSOMAL-DOMINANT MACULAR DEGENERATION
Authors: SOHOCKI MM SULLIVAN LS MINTZHITTNER H FERRELL RE DAIGER SP
Citation: Mm. Sohocki et al., EXCLUSION OF ATYPICAL VITELLIFORM MACULAR DYSTROPHY (VMD1) FROM 8Q24 AND FROM OTHER KNOWN LOCI FOR AUTOSOMAL-DOMINANT MACULAR DEGENERATION, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3683-3683
IDENTIFICATION OF CANDIDATE GENES INVOLVED IN THE AUTOSOMAL-DOMINANT CONE ROD DYSTROPHY LOCUS (CORD2) WHICH MAPS TO 19Q13.1
Authors: SOHOCKI MM SULLIVAN LS MINTZHITTNER HA DAIGER SP
Citation: Mm. Sohocki et al., IDENTIFICATION OF CANDIDATE GENES INVOLVED IN THE AUTOSOMAL-DOMINANT CONE ROD DYSTROPHY LOCUS (CORD2) WHICH MAPS TO 19Q13.1, American journal of human genetics, 61(4), 1997, pp. 1723-1723
LINKAGE MAPPING OF THIEL-BEHNKE CORNEAL-DYSTROPHY (CDTB) TO CHROMOSOME 10Q23-Q24
Authors: SULLIVAN LS DAIGER SP KHAN MN LAI HT LU Y YEE RW
Citation: Ls. Sullivan et al., LINKAGE MAPPING OF THIEL-BEHNKE CORNEAL-DYSTROPHY (CDTB) TO CHROMOSOME 10Q23-Q24, American journal of human genetics, 61(4), 1997, pp. 1728-1728
EXCLUSION OF ATYPICAL VITELLIFORM MACULAR DYSTROPHY FROM 8Q24.3 AND FROM OTHER KNOWN MACULAR DEGENERATIVE LOCI
Authors: SOHOCKI MM SULLIVAN LS MINTZHITTNER HA SMALL K FERRELL RE DAIGER SP
Citation: Mm. Sohocki et al., EXCLUSION OF ATYPICAL VITELLIFORM MACULAR DYSTROPHY FROM 8Q24.3 AND FROM OTHER KNOWN MACULAR DEGENERATIVE LOCI, American journal of human genetics, 61(1), 1997, pp. 239-241
INHERITED RETINAL DEGENERATION - EXCEPTIONAL GENETIC AND CLINICAL HETEROGENEITY
Authors: SULLIVAN LS DAIGER SP
Citation: Ls. Sullivan et Sp. Daiger, INHERITED RETINAL DEGENERATION - EXCEPTIONAL GENETIC AND CLINICAL HETEROGENEITY, Molecular medicine today, 2(9), 1996, pp. 380-386
MODEL SYSTEM FOR LINKAGE TESTING IN FAMILIES WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
Authors: DAIGER SP SULLIVAN LS BLANTON SH GARCIA CA BIRCH DG HECKENLIVELY JR
Citation: Sp. Daiger et al., MODEL SYSTEM FOR LINKAGE TESTING IN FAMILIES WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, Investigative ophthalmology & visual science, 37(3), 1996, pp. 3063-3063
BUCKLER,REIS CORNEAL-DYSTROPHY (RBCD) MAPS TO CHROMOSOME 5Q
Authors: YEE RW DAIGER SP SULLIVAN LS SMALL KW
Citation: Rw. Yee et al., BUCKLER,REIS CORNEAL-DYSTROPHY (RBCD) MAPS TO CHROMOSOME 5Q, Investigative ophthalmology & visual science, 37(3), 1996, pp. 4668-4668
A NOVEL SPLICE-SITE MUTATION IN THE GENE FOR PERIPHERIN RDS CAUSING DOMINANT RETINAL DEGENERATION/
Authors: SULLIVAN LS GUILFORD SR BIRCH DG DAIGER SP
Citation: Ls. Sullivan et al., A NOVEL SPLICE-SITE MUTATION IN THE GENE FOR PERIPHERIN RDS CAUSING DOMINANT RETINAL DEGENERATION/, Investigative ophthalmology & visual science, 37(3), 1996, pp. 5235-5235
EVIDENCE FOR A MAJOR GENE (RP10) FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME-7Q - LINKAGE MANNING IN A 2ND, UNRELATED FAMILY
Authors: MCGUIRE RE GANNON AM SULLIVAN LS RODRIGUEZ JA DAIGER SP
Citation: Re. Mcguire et al., EVIDENCE FOR A MAJOR GENE (RP10) FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME-7Q - LINKAGE MANNING IN A 2ND, UNRELATED FAMILY, Human genetics, 95(1), 1995, pp. 71-74
REPORT OF THE 2ND INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-8 MAPPING 1994
Authors: SPURR NK BLANTON S BOOKSTEIN R CLARKE R COTTINGHAM R DAIGER S DRAYNA D FABER P HORRIGAN S KAS K KIRCHGESSNER C KUMAR S LEACH RJ LUEDECKE HJ NAKAMURA Y PEBUSQUE MJ RANTA S SIM E SULLIVAN LS TAKLE L VANCE J WAGNER M WELLS D WESTBROOK C YAREMKO L ZALETAYEV D ZUFFARDI O WOOD S
Citation: Nk. Spurr et al., REPORT OF THE 2ND INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-8 MAPPING 1994, Cytogenetics and cell genetics, 68(3-4), 1995, pp. 148-155
REFINED LINKAGE AND PHYSICAL MAPPING OF THE CHROMOSOME-8 FORM OF AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA (RP1)
Authors: SULLIVAN LS BLANTON SH WAGNER MJ HECKENLIVELY JR DAIGER SP
Citation: Ls. Sullivan et al., REFINED LINKAGE AND PHYSICAL MAPPING OF THE CHROMOSOME-8 FORM OF AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA (RP1), Cytogenetics and cell genetics, 68(3-4), 1995, pp. 161-161
FINE-STRUCTURE LINKAGE AND PHYSICAL MAPPING OF THE RP1 FORM OF AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
Authors: SULLIVAN LS BLANTON SH WAGNER MJ HECKENLIVELY JR DAIGER SP
Citation: Ls. Sullivan et al., FINE-STRUCTURE LINKAGE AND PHYSICAL MAPPING OF THE RP1 FORM OF AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, Investigative ophthalmology & visual science, 36(4), 1995, pp. 1044-1044
X-LINKED DOMINANT CONE-ROD DYSTROPHY - LINKAGE MAPPING OF A NEW LOCUS(CORD3) TO XP22.13-P22.11
Authors: DAIGER SP MCGUIRE RE SULLIVAN LS HECKENLIVELY JR
Citation: Sp. Daiger et al., X-LINKED DOMINANT CONE-ROD DYSTROPHY - LINKAGE MAPPING OF A NEW LOCUS(CORD3) TO XP22.13-P22.11, Investigative ophthalmology & visual science, 36(4), 1995, pp. 1065-1065
CORRELATION OF PHENOTYPE WITH GENOTYPE IN INHERITED RETINAL DEGENERATION
Authors: DAIGER SP SULLIVAN LS RODRIGUEZ JA
Citation: Sp. Daiger et al., CORRELATION OF PHENOTYPE WITH GENOTYPE IN INHERITED RETINAL DEGENERATION, Behavioral and brain sciences, 18(3), 1995, pp. 452-467
HAPLOTYPES FOR POLYMORPHIC AMINO-ACID SUBSTITUTIONS IN PERIPHERIN RDS/
Authors: SAWYER JC GANNON AM SULLIVAN LS WAGNER MG DAIGER SP
Citation: Jc. Sawyer et al., HAPLOTYPES FOR POLYMORPHIC AMINO-ACID SUBSTITUTIONS IN PERIPHERIN RDS/, American journal of human genetics, 57(4), 1995, pp. 1161-1161
X-LINKED DOMINANT CONE-ROD DEGENERATION - LINKAGE MAPPING OF A NEW LOCUS FOR RETINITIS-PIGMENTOSA (RP15) TO XP22.13-P22.11
Authors: MCGUIRE RE SULLIVAN LS BLANTON SH CHURCH MW HECKENLIVELY JR DAIGER SP
Citation: Re. Mcguire et al., X-LINKED DOMINANT CONE-ROD DEGENERATION - LINKAGE MAPPING OF A NEW LOCUS FOR RETINITIS-PIGMENTOSA (RP15) TO XP22.13-P22.11, American journal of human genetics, 57(1), 1995, pp. 87-94
TETRANUCLEOTIDE REPEAT POLYMORPHISM (D8S582) FOR HUMAN EST00680 (D8S340E)
Authors: SULLIVAN LS PARRISH N WAGNER MJ WELLS D BLANTON SH DAIGER SP
Citation: Ls. Sullivan et al., TETRANUCLEOTIDE REPEAT POLYMORPHISM (D8S582) FOR HUMAN EST00680 (D8S340E), Human molecular genetics, 3(2), 1994, pp. 386-386
Risultati: 1-20 |