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Results: 1-25/147
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 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
IDENTIFICATION OF MUTATIONS IN THE CONNEXIN-26 GENE THAT CAUSE AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING-LOSS
Authors: SCOTT DA KRAFT ML CARMI R RAMESH A ELBEDOUR K YAIRI Y SRISAILAPATHY CRS ROSENGREN SS MARKHAM AF MUELLER RF LENCH NJ VANCAMP G SMITH RJH SHEFFIELD VC
Citation: Da. Scott et al., IDENTIFICATION OF MUTATIONS IN THE CONNEXIN-26 GENE THAT CAUSE AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING-LOSS, Human mutation, 11(5), 1998, pp. 387-394
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
HUMAN AUTOSOMAL RECESSIVE OSTEOPETROSIS MAPS TO 11Q13, A POSITION PREDICTED BY COMPARATIVE MAPPING OF THE MURINE OSTEOSCLEROSIS (OC) MUTATION
Authors: HEANEY C SHALEV H ELBEDOUR K CARMI R STAACK JB SHEFFIELD VC BEIER DR
Citation: C. Heaney et al., HUMAN AUTOSOMAL RECESSIVE OSTEOPETROSIS MAPS TO 11Q13, A POSITION PREDICTED BY COMPARATIVE MAPPING OF THE MURINE OSTEOSCLEROSIS (OC) MUTATION, Human molecular genetics (Print), 7(9), 1998, pp. 1407-1410
IDENTIFICATION AND MUTATION ANALYSIS OF A COCHLEAR-EXPRESSED, ZINC-FINGER PROTEIN GENE AT THE DFNB7 11 AND DN HEARING-LOSS-LOCI ON HUMAN-CHROMOSOME 9Q AND MOUSE-CHROMOSOME-19/
Authors: SCOTT DA GREINWALD JH MARIETTA JR DRURY S SWIDERSKI RE VINAS A DEANGELIS MM CARMI R RAMESH A KRAFT ML SKWORAK AB FRIEDMAN RA SRISAILAPATHY CRS VERHOEVEN K VANCAMP G LOVETT M DEININGER PL BATZER MA MORTON CC KEATS BJ SMITH RJH SHEFFIELD VC
Citation: Da. Scott et al., IDENTIFICATION AND MUTATION ANALYSIS OF A COCHLEAR-EXPRESSED, ZINC-FINGER PROTEIN GENE AT THE DFNB7 11 AND DN HEARING-LOSS-LOCI ON HUMAN-CHROMOSOME 9Q AND MOUSE-CHROMOSOME-19/, Gene, 215(2), 1998, pp. 461-469
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
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
LOCI LINKED TO QUANTITATIVE BODY-SIZE MEASURES FROM A GENOMIC SCAN - THE MUSCATINE STUDY
Authors: BURNS TL DONOHOUE PA LAUER RM MENDOZA MC NISHIMURA DY SHEFFIELD VC
Citation: Tl. Burns et al., LOCI LINKED TO QUANTITATIVE BODY-SIZE MEASURES FROM A GENOMIC SCAN - THE MUSCATINE STUDY, Circulation, 98(17), 1998, pp. 1965-1965
A BEDOUIN KINDRED WITH INFANTILE NEPHRONOPHTHISIS DEMONSTRATES LINKAGE TO CHROMOSOME 9 BY HOMOZYGOSITY MAPPING
Authors: HAIDER NB CARMI R SHALEV H SHEFFIELD VC LANDAU D
Citation: Nb. Haider et al., A BEDOUIN KINDRED WITH INFANTILE NEPHRONOPHTHISIS DEMONSTRATES LINKAGE TO CHROMOSOME 9 BY HOMOZYGOSITY MAPPING, American journal of human genetics, 63(5), 1998, pp. 1404-1410
COMPREHENSIVE HUMAN GENETIC MAPS - INDIVIDUAL AND SEX-SPECIFIC VARIATION IN RECOMBINATION
Authors: BROMAN KW MURRAY JC SHEFFIELD VC WHITE RL WEBER JL
Citation: Kw. Broman et al., COMPREHENSIVE HUMAN GENETIC MAPS - INDIVIDUAL AND SEX-SPECIFIC VARIATION IN RECOMBINATION, American journal of human genetics, 63(3), 1998, pp. 861-869
HOMOZYGOSITY AND LINKAGE-DISEQUILIBRIUM MAPPING OF THE SYNDROME OF CONGENITAL HYPOPARATHYROIDISM, GROWTH AND MENTAL-RETARDATION, AND DYSMORPHISM TO A 1-CM INTERVAL ON CHROMOSOME 1Q42-43
Authors: PARVARI R HERSHKOVITZ E KANIS A GORODISCHER R SHALITIN S SHEFFIELD VC CARMI R
Citation: R. Parvari et al., HOMOZYGOSITY AND LINKAGE-DISEQUILIBRIUM MAPPING OF THE SYNDROME OF CONGENITAL HYPOPARATHYROIDISM, GROWTH AND MENTAL-RETARDATION, AND DYSMORPHISM TO A 1-CM INTERVAL ON CHROMOSOME 1Q42-43, American journal of human genetics, 63(1), 1998, pp. 163-169
LINKAGE OF INFANTILE BARTTER-SYNDROME WITH SENSORINEURAL DEAFNESS TO CHROMOSOME 1P
Authors: BRENNAN TMH LANDAU D SHALEV H LAMB F SCHUTTE BC WALDER RY MARK AL CARMI R SHEFFIELD VC
Citation: Tmh. Brennan et al., LINKAGE OF INFANTILE BARTTER-SYNDROME WITH SENSORINEURAL DEAFNESS TO CHROMOSOME 1P, American journal of human genetics, 62(2), 1998, pp. 355-361
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
PENDRED SYNDROME IS CAUSED BY MUTATIONS IN A PUTATIVE SULFATE TRANSPORTER GENE (PDS)
Authors: EVERETT LA GLASER B BECK JC IDOL JR BUCHS A HEYMAN M ADAWI F HAZANI E NASSIR E BAXEVANIS AD SHEFFIELD VC GREEN ED
Citation: La. Everett et al., PENDRED SYNDROME IS CAUSED BY MUTATIONS IN A PUTATIVE SULFATE TRANSPORTER GENE (PDS), Nature genetics, 17(4), 1997, pp. 411-422
CONSTRUCTION OF P1-DERIVED ARTIFICIAL CHROMOSOME AND YEAST ARTIFICIALCHROMOSOME CONTIGS ENCOMPASSING THE DFNB7 AND DFNB11 REGION OF CHROMOSOME 9Q13-21
Authors: GREINWALD JH SCOTT DA MARIETTA JR CARMI R MANALIGOD J RAMESH A ZBAR RIS KRAFT ML ELBEDOUR K YAIRI Y MUSY M SKVORAK AB VANCAMP G SRISAILAPATHY CRS LOVETT M MORTON CC SHEFFIELD VC SMITH RJH
Citation: Jh. Greinwald et al., CONSTRUCTION OF P1-DERIVED ARTIFICIAL CHROMOSOME AND YEAST ARTIFICIALCHROMOSOME CONTIGS ENCOMPASSING THE DFNB7 AND DFNB11 REGION OF CHROMOSOME 9Q13-21, PCR methods and applications, 7(9), 1997, pp. 879-886
FAMILIAL HYPOMAGNESEMIA MAPS TO CHROMOSOME 9Q, NOT TO THE X-CHROMOSOME - GENETIC-LINKAGE MAPPING AND ANALYSIS OF A BALANCED TRANSLOCATION BREAKPOINT
Authors: WALDER RY SHALEV H BRENNAN TMH CARMI R ELBEDOUR K SCOTT DA HANAUER A MARK AL PATIL S STONE EM SHEFFIELD VC
Citation: Ry. Walder et al., FAMILIAL HYPOMAGNESEMIA MAPS TO CHROMOSOME 9Q, NOT TO THE X-CHROMOSOME - GENETIC-LINKAGE MAPPING AND ANALYSIS OF A BALANCED TRANSLOCATION BREAKPOINT, Human molecular genetics, 6(9), 1997, pp. 1491-1497
HOMOZYGOSITY MAPPING OF ACHROMATOPSIA TO CHROMOSOME-2 USING DNA POOLING
Authors: ARBOUR NC ZLOTOGORA J KNOWLTON RG MERIN S ROSENMANN A KANIS AB ROKHLINA T STONE EM SHEFFIELD VC
Citation: Nc. Arbour et al., HOMOZYGOSITY MAPPING OF ACHROMATOPSIA TO CHROMOSOME-2 USING DNA POOLING, Human molecular genetics, 6(5), 1997, pp. 689-694
IRAQI-JEWISH KINDREDS WITH OPTIC ATROPHY PLUS (3-METHYLGLUTACONIC ACIDURIA TYPE-3) DEMONSTRATE LINKAGE DISEQUILIBRIUM WITH THE CTG REPEAT IN THE 3'-UNTRANSLATED REGION OF THE MYOTONIC-DYSTROPHY PROTEIN-KINASE GENE
Authors: NYSTUEN A COSTEFF H ELPELEG ON APTER N BONNETAMIR B MOHRENWEISER H HAIDER N STONE EM SHEFFIELD VC
Citation: A. Nystuen et al., IRAQI-JEWISH KINDREDS WITH OPTIC ATROPHY PLUS (3-METHYLGLUTACONIC ACIDURIA TYPE-3) DEMONSTRATE LINKAGE DISEQUILIBRIUM WITH THE CTG REPEAT IN THE 3'-UNTRANSLATED REGION OF THE MYOTONIC-DYSTROPHY PROTEIN-KINASE GENE, Human molecular genetics, 6(4), 1997, pp. 563-569
IDENTIFICATION OF A COMPLEX CONGENITAL HEART DEFECT SUSCEPTIBILITY LOCUS BY USING DNA POOLING AND SHARED SEGMENT ANALYSIS
Authors: SHEFFIELD VC PIERPONT ME NISHIMURA D BEEK JS BURNS TL BERG MA STONE EM PATIL SR LAUER RM
Citation: Vc. Sheffield et al., IDENTIFICATION OF A COMPLEX CONGENITAL HEART DEFECT SUSCEPTIBILITY LOCUS BY USING DNA POOLING AND SHARED SEGMENT ANALYSIS, Human molecular genetics, 6(1), 1997, pp. 117-121
NEW GENE FOR AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING-LOSS MAPS TO EITHER CHROMOSOME 3Q OR 19P
Authors: CHEN A WAYNE S BELL A RAMESH A SRISAILAPATHY CRS SCOTT DA SHEFFIELD VC VANHAUWE P ZBAR RIS ASHLEY J LOVETT M VANCAMP G SMITH RJH
Citation: A. Chen et al., NEW GENE FOR AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING-LOSS MAPS TO EITHER CHROMOSOME 3Q OR 19P, American journal of medical genetics, 71(4), 1997, pp. 467-471
HOMOZYGOSITY MAPPING OF ACHROMATOPSIA TO CHROMOSOME 2P11 USING DNA POOLING
Authors: ARBOUR NC ZLOTOGORA J KNOWLTON RG MERIN S ROKHLINA T STONE EM SHEFFIELD VC
Citation: Nc. Arbour et al., HOMOZYGOSITY MAPPING OF ACHROMATOPSIA TO CHROMOSOME 2P11 USING DNA POOLING, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3295-3295
Risultati: 1-25 | 26-50 | 51-75 | 76-100 | >>