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Results: 1-25/155
A GENE FOR FAMILIAL JUVENILE POLYPOSIS MAPS TO CHROMOSOME 18Q21.1
Authors: HOWE JR RINGOLD JC SUMMERS RW MITROS FA NISHIMURA DY STONE EM
Citation: Jr. Howe et al., A GENE FOR FAMILIAL JUVENILE POLYPOSIS MAPS TO CHROMOSOME 18Q21.1, American journal of human genetics, 62(5), 1998, pp. 1129-1136
RHODOPSIN C110Y MUTATION CAUSES A TYPE-2 AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
Authors: MILLA E HEON E GROUNAUER PA PIGUET B DUCREY N STONE EM SCHORDERET DF MUNIER FL
Citation: E. Milla et al., RHODOPSIN C110Y MUTATION CAUSES A TYPE-2 AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, Ophthalmic genetics, 19(3), 1998, pp. 131-139
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
EXPANDING THE REPERTOIRE OF RP GENES
Authors: STONE EM
Citation: Em. Stone, EXPANDING THE REPERTOIRE OF RP GENES, Nature genetics, 19(4), 1998, pp. 311-313
THE FORKHEAD TRANSCRIPTION FACTOR GENE FKHL7 IS RESPONSIBLE FOR GLAUCOMA PHENOTYPES WHICH MAP TO 6P25
Authors: NISHIMURA DY SWIDERSKI RE ALWARD WLM SEARBY CC PATIL SR BENNET SR KANIS AB GASTIER JM STONE EM SHEFFIELD VC
Citation: Dy. Nishimura et al., THE FORKHEAD TRANSCRIPTION FACTOR GENE FKHL7 IS RESPONSIBLE FOR GLAUCOMA PHENOTYPES WHICH MAP TO 6P25, Nature genetics, 19(2), 1998, pp. 140-147
DE-NOVO MUTATIONS IN THE CRX HOMEOBOX GENE ASSOCIATED WITH LEBER CONGENITAL AMAUROSIS
Authors: FREUND CL WANG QL CHEN SM MUSKAT BL WILES CD SHEFFIELD VC JACOBSON SG MCINNES RR ZACK DJ STONE EM
Citation: Cl. Freund et al., DE-NOVO MUTATIONS IN THE CRX HOMEOBOX GENE ASSOCIATED WITH LEBER CONGENITAL AMAUROSIS, Nature genetics, 18(4), 1998, pp. 311-312
DNA-ADDUCTS IN HUMAN BREAST-TISSUE - ASSOCIATION WITH N-ACETYLTRANSFERASE-2 (NAT2) AND NAT1 GENOTYPES
Authors: PFAU W STONE EM BROCKSTEDT U CARMICHAEL PL MARQUARDT H PHILLIPS DH
Citation: W. Pfau et al., DNA-ADDUCTS IN HUMAN BREAST-TISSUE - ASSOCIATION WITH N-ACETYLTRANSFERASE-2 (NAT2) AND NAT1 GENOTYPES, Cancer epidemiology, biomarkers & prevention, 7(11), 1998, pp. 1019-1025
CHARACTERIZATION AND COMPARISON OF THE HUMAN AND MOUSE GLC1A GLAUCOMAGENES
Authors: FINGERT JH YING LH SWIDERSKI RE NYSTUEN AM ARBOUR NC ALWARD WLM SHEFFIELD VC STONE EM
Citation: Jh. Fingert et al., CHARACTERIZATION AND COMPARISON OF THE HUMAN AND MOUSE GLC1A GLAUCOMAGENES, PCR methods and applications, 8(4), 1998, pp. 377-384
COMPREHENSIVE HEALTH DATA SYSTEMS SPANNING THE PUBLIC-PRIVATE DIVIDE - THE MASSACHUSETTS EXPERIENCE
Authors: STONE EM BAILIT MH GREENBERG MS JANES GR
Citation: Em. Stone et al., COMPREHENSIVE HEALTH DATA SYSTEMS SPANNING THE PUBLIC-PRIVATE DIVIDE - THE MASSACHUSETTS EXPERIENCE, American journal of preventive medicine, 14(3), 1998, pp. 40-45
SILENT CHROMATIN IN YEAST - AN ORCHESTRATED MEDLEY FEATURING SIR3P (VOL 20, PG 30, 1998)
Authors: STONE EM PILLUS L
Citation: Em. Stone et L. Pillus, SILENT CHROMATIN IN YEAST - AN ORCHESTRATED MEDLEY FEATURING SIR3P (VOL 20, PG 30, 1998), BioEssays, 20(3), 1998, pp. 273-273
SILENT CHROMATIN IN YEAST - AN ORCHESTRATED MEDLEY FEATURING SIR3P
Authors: STONE EM PILLUS L
Citation: Em. Stone et L. Pillus, SILENT CHROMATIN IN YEAST - AN ORCHESTRATED MEDLEY FEATURING SIR3P, BioEssays, 20(1), 1998, pp. 30-40
USE OF ISOLATED INBRED HUMAN-POPULATIONS FOR IDENTIFICATION OF DISEASE GENES
Authors: SHEFFIELD VC STONE EM CARMI R
Citation: Vc. Sheffield et al., USE OF ISOLATED INBRED HUMAN-POPULATIONS FOR IDENTIFICATION OF DISEASE GENES, Trends in genetics, 14(10), 1998, pp. 391-396
GENOMAP - A DISTRIBUTED SYSTEM FOR UNIFYING GENOTYPING AND GENETIC-LINKAGE ANALYSIS
Authors: SCHEETZ TE BRAUN TA MUNN KJ STONE EM SHEFFIELD VC CASAVANT TL
Citation: Te. Scheetz et al., GENOMAP - A DISTRIBUTED SYSTEM FOR UNIFYING GENOTYPING AND GENETIC-LINKAGE ANALYSIS, Parallel computing, 24(9-10), 1998, pp. 1567-1592
RETINAL DEGENERATIONS WITH TRUNCATION MUTATIONS IN THE CONE-ROD HOMEOBOX (CRX) GENE
Authors: JACOBSON SG CIDECIYAN AV HUANG YJ HANNA DB FREUND CL AFFATIGATO LM CARR RE ZACK DJ STONE EM MCINNES RR
Citation: Sg. Jacobson et al., RETINAL DEGENERATIONS WITH TRUNCATION MUTATIONS IN THE CONE-ROD HOMEOBOX (CRX) GENE, Investigative ophthalmology & visual science, 39(12), 1998, pp. 2417-2426
INTERINDIVIDUAL VARIATION IN THE METABOLIC-ACTIVATION OF HETEROCYCLICAMINES AND THEIR N-HYDROXY DERIVATIVES IN PRIMARY CULTURES OF HUMAN MAMMARY EPITHELIAL-CELLS
Authors: STONE EM WILLIAMS JA GROVER PL GUSTERSON BA PHILLIPS DH
Citation: Em. Stone et al., INTERINDIVIDUAL VARIATION IN THE METABOLIC-ACTIVATION OF HETEROCYCLICAMINES AND THEIR N-HYDROXY DERIVATIVES IN PRIMARY CULTURES OF HUMAN MAMMARY EPITHELIAL-CELLS, Carcinogenesis, 19(5), 1998, pp. 873-879
MUTATIONS IN THE SMAD4 DPC4 GENE IN JUVENILE POLYPOSIS/
Authors: HOWE JR ROTH S RINGOLD JC SUMMERS RW JARVINEN HJ SISTONEN P TOMLINSON IPM HOULSTON RS BEVAN S MITROS FA STONE EM AALTONEN LA
Citation: Jr. Howe et al., MUTATIONS IN THE SMAD4 DPC4 GENE IN JUVENILE POLYPOSIS/, Science, 280(5366), 1998, pp. 1086-1088
CLINICAL-FEATURES ASSOCIATED WITH MUTATIONS IN THE CHROMOSOME-1 OPEN-ANGLE GLAUCOMA GENE (GLCIA)
Authors: ALWARD WLM FINGERT JH COOTE MA JOHNSON AT LERNER SF JUNQUA D DURCAN FJ MCCARTNEY PJ MACKEY DA SHEFFIELD VC STONE EM
Citation: Wlm. Alward et al., CLINICAL-FEATURES ASSOCIATED WITH MUTATIONS IN THE CHROMOSOME-1 OPEN-ANGLE GLAUCOMA GENE (GLCIA), The New England journal of medicine, 338(15), 1998, pp. 1022-1027
CONNEXIN MUTATIONS AND HEARING-LOSS
Authors: SCOTT DA KRAFT ML STONE EM SHEFFIELD VC SMITH RJH
Citation: Da. Scott et al., CONNEXIN MUTATIONS AND HEARING-LOSS, Nature, 391(6662), 1998, pp. 32-32
DISEASE SEQUENCE FROM MUTANT RHODOPSIN ALLELE TO ROD AND CONE PHOTORECEPTOR DEGENERATION IN MAN
Authors: CIDECIYAN AV HOOD DC HUANG YJ BANIN E LI ZY STONE EM MILAM AH JACOBSON SG
Citation: Av. Cideciyan et al., DISEASE SEQUENCE FROM MUTANT RHODOPSIN ALLELE TO ROD AND CONE PHOTORECEPTOR DEGENERATION IN MAN, Proceedings of the National Academy of Sciences of the United Statesof America, 95(12), 1998, pp. 7103-7108
THE GENE FOR FAMILIAL JUVENILE POLYPOSIS MAPS TO CHROMOSOME 18Q21
Authors: HOWE JR RINGOLD JC SUMMERS RW MITROS FA NISHIMURA DY STONE EM
Citation: Jr. Howe et al., THE GENE FOR FAMILIAL JUVENILE POLYPOSIS MAPS TO CHROMOSOME 18Q21, Gastroenterology, 114(4), 1998, pp. 2520-2520
RELATIVE AFFERENT PUPILLARY DEFECTS IN PATIENTS WITH LEBER HEREDITARYOPTIC NEUROPATHY AND UNILATERAL VISUAL-LOSS
Authors: JACOBSON DM STONE EM MILLER NR POLLOCK SC FLETCHER WA MCNUSSEN PJ MARTIN TJ
Citation: Dm. Jacobson et al., RELATIVE AFFERENT PUPILLARY DEFECTS IN PATIENTS WITH LEBER HEREDITARYOPTIC NEUROPATHY AND UNILATERAL VISUAL-LOSS, American journal of ophthalmology, 126(2), 1998, pp. 291-295
AUTOSOMAL-DOMINANT IRIS HYPOPLASIA IS CAUSED BY A MUTATION IN THE RIEGER-SYNDROME (RIEG PITX2) GENE/
Authors: ALWARD WLM SEMINA EV KALENAK JW HEON E SHETH BP STONE EM MURRAY JC
Citation: Wlm. Alward et al., AUTOSOMAL-DOMINANT IRIS HYPOPLASIA IS CAUSED BY A MUTATION IN THE RIEGER-SYNDROME (RIEG PITX2) GENE/, American journal of ophthalmology, 125(1), 1998, pp. 98-100
CLINICAL AND MOLECULAR CHARACTERIZATION OF A FAMILY AFFECTED WITH X-LINKED OCULAR ALBINISM (OA1)
Authors: LAM BL FINGERT JH SHUTT BC SINGLETON EM MERIN LM BROWN HH SHEFFIELD VC STONE EM
Citation: Bl. Lam et al., CLINICAL AND MOLECULAR CHARACTERIZATION OF A FAMILY AFFECTED WITH X-LINKED OCULAR ALBINISM (OA1), Ophthalmic genetics, 18(4), 1997, pp. 175-184
EVALUATION OF A SIGNIFICANTLY SHORTER VERSION OF THE FARNSWORTH-MUNSELL 100-HUE TEST IN PATIENTS WITH 3 DIFFERENT OPTIC NEUROPATHIES
Authors: NICHOLS BE THOMPSON HS STONE EM
Citation: Be. Nichols et al., EVALUATION OF A SIGNIFICANTLY SHORTER VERSION OF THE FARNSWORTH-MUNSELL 100-HUE TEST IN PATIENTS WITH 3 DIFFERENT OPTIC NEUROPATHIES, Journal of neuro-ophthalmology, 17(1), 1997, pp. 1-6
CHROMATIN IN YEAST - REGULATING SILENCING, REGULATING LIFE
Authors: PILLUS L CLARKE AS JACOBSON SJ LOWELL JE SHERMAN JM STONE EM
Citation: L. Pillus et al., CHROMATIN IN YEAST - REGULATING SILENCING, REGULATING LIFE, Molecular biology of the cell, 8, 1997, pp. 18-18
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