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Results: 1-25 | 26-50 | 51-59
Results: 1-25/59
USING NEURAL NETWORKS AS AN AID IN THE DETERMINATION OF DISEASE STATUS - COMPARISON OF CLINICAL-DIAGNOSIS TO NEURAL-NETWORK PREDICTIONS IN A PEDIGREE WITH AUTOSOMAL-DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: FALK CT GILCHRIST JM PERICAKVANCE MA SPEER MC
Citation: Ct. Falk et al., USING NEURAL NETWORKS AS AN AID IN THE DETERMINATION OF DISEASE STATUS - COMPARISON OF CLINICAL-DIAGNOSIS TO NEURAL-NETWORK PREDICTIONS IN A PEDIGREE WITH AUTOSOMAL-DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY, American journal of human genetics, 62(4), 1998, pp. 941-949
MISSENSE MUTATION IN A VON-WILLEBRAND-FACTOR TYPE-A DOMAIN OF THE ALPHA-3(VI) COLLAGEN GENE (COL6A3) IN A FAMILY WITH BETHLEM MYOPATHY
Authors: PAN TC ZHANG RZ PERICAKVANCE MA TANDAN R FRIES T STAJICH JM VILES K VANCE JM CHU ML SPEER MC
Citation: Tc. Pan et al., MISSENSE MUTATION IN A VON-WILLEBRAND-FACTOR TYPE-A DOMAIN OF THE ALPHA-3(VI) COLLAGEN GENE (COL6A3) IN A FAMILY WITH BETHLEM MYOPATHY, Human molecular genetics, 7(5), 1998, pp. 807-812
PROMOTER SEQUENCE, EXPRESSION, AND FINE CHROMOSOMAL MAPPING OF THE HUMAN GENE (MLP) ENCODING THE MARCKS-LIKE PROTEIN - IDENTIFICATION OF NEIGHBORING AND LINKED POLYMORPHIC LOCI FOR MLP AND MACS AND USE IN THE EVALUATION OF HUMAN NEURAL-TUBE DEFECTS
Authors: STUMPO DJ EDDY RL HALEY LL SAIT S SHOWS TB LAI WS YOUNG WS SPEER MC DEHEJIA A POLYMEROPOULOS M BLACKSHEAR PJ
Citation: Dj. Stumpo et al., PROMOTER SEQUENCE, EXPRESSION, AND FINE CHROMOSOMAL MAPPING OF THE HUMAN GENE (MLP) ENCODING THE MARCKS-LIKE PROTEIN - IDENTIFICATION OF NEIGHBORING AND LINKED POLYMORPHIC LOCI FOR MLP AND MACS AND USE IN THE EVALUATION OF HUMAN NEURAL-TUBE DEFECTS, Genomics, 49(2), 1998, pp. 253-264
QUANTITATIVE DNA POOLING TO INCREASE THE EFFICIENCY OF LINKAGE ANALYSIS IN AUTOSOMAL-DOMINANT DISEASE
Authors: DAMJI KF GALLIONE CJ ALLINGHAM RR SLOTTERBECK B GUTTMACHER AE PASYK KA VANCE JM PERICAKVANCE MA SPEER MC MARCHUK DA
Citation: Kf. Damji et al., QUANTITATIVE DNA POOLING TO INCREASE THE EFFICIENCY OF LINKAGE ANALYSIS IN AUTOSOMAL-DOMINANT DISEASE, Human genetics, 102(2), 1998, pp. 207-212
EXCLUSION OF THE ALPHA-SYNUCLEIN GENE AS A MAJOR GENETIC RISK FACTOR IN IDIOPATHIC PARKINSON-DISEASE (PD)
Authors: SCOTT WK YAMAOKA LH STAJICH JM SPEER MC SCOTT BL NANCE M HUBBLE J WATTS RL KOLLER W JANKOVIC J ONDO W STERN MB COLCHER A HINER BC ALLEN FH GOETZ C PAPPERT E MASTAGLIA F LAING NG SMALL GW MASTERMAN D HAINES JL DAVIS T AMINOFF M DOWLING G VANCE JM ROSES AD PERICAKVANCE MA
Citation: Wk. Scott et al., EXCLUSION OF THE ALPHA-SYNUCLEIN GENE AS A MAJOR GENETIC RISK FACTOR IN IDIOPATHIC PARKINSON-DISEASE (PD), Neurology, 50(4), 1998, pp. 53006-53006
EVIDENCE FOR ANTICIPATION IN AUTOSOMAL-DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: SPEER MC GILCHRIST JM STAJICH JM GASKELL PC WESTBROOK CA HORRIGAN SK BARTOLONI L YAMAOKA LH SCOTT WK PERICAKVANCE MA
Citation: Mc. Speer et al., EVIDENCE FOR ANTICIPATION IN AUTOSOMAL-DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY, Journal of Medical Genetics, 35(4), 1998, pp. 305-308
A PHEX GENE MUTATION IS RESPONSIBLE FOR ADULT-ONSET VITAMIN-D-RESISTANT HYPOPHOSPHATEMIC OSTEOMALACIA - EVIDENCE THAT THE DISORDER IS NOT ADISTINCT ENTITY FROM X-LINKED HYPOPHOSPHATEMIC RICKETS
Authors: ECONS MJ FRIEDMAN NE ROWE PSN SPEER MC FRANCIS F STROM TM OUDET C SMITH JA NINOMIYA JT LEE BE BERGEN H
Citation: Mj. Econs et al., A PHEX GENE MUTATION IS RESPONSIBLE FOR ADULT-ONSET VITAMIN-D-RESISTANT HYPOPHOSPHATEMIC OSTEOMALACIA - EVIDENCE THAT THE DISORDER IS NOT ADISTINCT ENTITY FROM X-LINKED HYPOPHOSPHATEMIC RICKETS, The Journal of clinical endocrinology and metabolism, 83(10), 1998, pp. 3459-3462
EXCLUSION OF IDENTIFIED LGMD1 LOCI FROM 4 DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY FAMILIES
Authors: SPEER MC VANCE JM LENNONGRAHAM F STAJICH JM VILES KD GILCHRIST JM NIGRO V MCMICHAEL R CHUTKOW JG BARTOLONI L HORRIGAN SK WESTBROOK CA PERICAKVANCE MA
Citation: Mc. Speer et al., EXCLUSION OF IDENTIFIED LGMD1 LOCI FROM 4 DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY FAMILIES, Human heredity, 48(4), 1998, pp. 179-184
CA REPEAT POLYMORPHISM OF THE COL6A3 GENE ON CHROMOSOME 2Q37
Authors: PAN TC ZHANG RZ SPEER MC CHU ML
Citation: Tc. Pan et al., CA REPEAT POLYMORPHISM OF THE COL6A3 GENE ON CHROMOSOME 2Q37, Human heredity, 48(4), 1998, pp. 235-236
A PEX GENE MUTATION IS RESPONSIBLE FOR ADULT-ONSET VITAMIN-D-RESISTANT HYPOPHOSPHATEMIC OSTEOMALACIA - EVIDENCE THAT THE DISORDER IS NOT A DISTINCT ENTITY FROM X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP)
Authors: ECONS MJ FRIEDMAN NE ROWE PSN SPEER MC FRANCIS F STROM TM OUDET C LEE B BERGEN H
Citation: Mj. Econs et al., A PEX GENE MUTATION IS RESPONSIBLE FOR ADULT-ONSET VITAMIN-D-RESISTANT HYPOPHOSPHATEMIC OSTEOMALACIA - EVIDENCE THAT THE DISORDER IS NOT A DISTINCT ENTITY FROM X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP), Journal of bone and mineral research, 12, 1997, pp. 316-316
GAW10 - SIMULATED FAMILY DATA FOR A COMMON OLIGOGENIC DISEASE WITH QUANTITATIVE RISK-FACTORS
Authors: MACCLUER JW BLANGERO J DYER TD SPEER MC
Citation: Jw. Maccluer et al., GAW10 - SIMULATED FAMILY DATA FOR A COMMON OLIGOGENIC DISEASE WITH QUANTITATIVE RISK-FACTORS, Genetic epidemiology, 14(6), 1997, pp. 737-742
FALSE-POSITIVE RATES IN A GENOMIC SCREEN FOR COMPLEX QUANTITATIVE TRAITS
Authors: SCOTT WK SPEER MC LEAL SM BRZUSTOWICZ LM HAYNES CS PERICAKVANCE MA
Citation: Wk. Scott et al., FALSE-POSITIVE RATES IN A GENOMIC SCREEN FOR COMPLEX QUANTITATIVE TRAITS, Genetic epidemiology, 14(6), 1997, pp. 891-896
GENETIC COMPLEXITY AND PARKINSONS-DISEASE
Authors: SCOTT WK STAJICH JM YAMAOKA LH SPEER MC VANCE JM ROSES AD PERICAKVANCE MA NANCE M HUBBLE J KOLLER W STERN MB COLCHER A WATTS RL GOETZ C PAPPERT E ALLEN FH JANKOVIC J ONDO W HINER BC AMINOFF M DOWLING G SMALL GW
Citation: Wk. Scott et al., GENETIC COMPLEXITY AND PARKINSONS-DISEASE, Science, 277(5324), 1997, pp. 387-388
GENETIC-MAPPING OF AXONAL CHARCOT-MARIE-TOOTH-DISEASE
Authors: VANCE JM BENOTHMANE K WEST S BLOMEIER HE RICHARDSON C ROCHELLE JM LENNON F STAJICH JM SPEER MC PERICAKVANCE MA
Citation: Jm. Vance et al., GENETIC-MAPPING OF AXONAL CHARCOT-MARIE-TOOTH-DISEASE, Neurology, 48(3), 1997, pp. 5095-5095
AUTOSOMAL-DOMINANT HYPOPHOSPHATEMIC RICKETS IS LINKED TO CHROMOSOME 12P13
Authors: ECONS MJ MCENERY PT LENNON F SPEER MC
Citation: Mj. Econs et al., AUTOSOMAL-DOMINANT HYPOPHOSPHATEMIC RICKETS IS LINKED TO CHROMOSOME 12P13, The Journal of clinical investigation, 100(11), 1997, pp. 2653-2657
THE AUTOSOMAL-DOMINANT HYPOPHOSPHATEMIC RICKETS GENE (ADHR) IS LINKEDTO CHROMOSOME 12P
Authors: ECONS MJ MCENERY PT LENNON F SPEER MC
Citation: Mj. Econs et al., THE AUTOSOMAL-DOMINANT HYPOPHOSPHATEMIC RICKETS GENE (ADHR) IS LINKEDTO CHROMOSOME 12P, American journal of human genetics, 61(4), 1997, pp. 57-57
GENETIC-LINKAGE OF AUTOSOMAL-DOMINANT DILATED CARDIOMYOPATHY AND LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: MCNALLY EM SPEER MC PERICAKVANCE MA MESSINA DN
Citation: Em. Mcnally et al., GENETIC-LINKAGE OF AUTOSOMAL-DOMINANT DILATED CARDIOMYOPATHY AND LIMB-GIRDLE MUSCULAR-DYSTROPHY, American journal of human genetics, 61(4), 1997, pp. 145-145
FAMILIAL AGGREGATION OF FOCAL SEGMENTAL GLOMERULOSCLEROSIS
Authors: WINN MP CONLON P LYNN K BEMBE ML QUARLES LD HOWELL DN SPEER MC VANCE JM PERICAKVANCE MA
Citation: Mp. Winn et al., FAMILIAL AGGREGATION OF FOCAL SEGMENTAL GLOMERULOSCLEROSIS, American journal of human genetics, 61(4), 1997, pp. 656-656
ASSOCIATION OF CHIARI TYPE-1 MALFORMATION AND PRIMARY EMPTY SELLA TURCICA - 2 CASE-REPORTS WITH RETROSPECTIVE DATA REVIEW
Authors: WOLPERT CM SPEER MC TRINIDAD E MU H GRIPP KW ECONS MJ ALYSWORTH AS MILHORAT TH
Citation: Cm. Wolpert et al., ASSOCIATION OF CHIARI TYPE-1 MALFORMATION AND PRIMARY EMPTY SELLA TURCICA - 2 CASE-REPORTS WITH RETROSPECTIVE DATA REVIEW, American journal of human genetics, 61(4), 1997, pp. 657-657
LIMB-GIRDLE MUSCULAR-DYSTROPHY 1A - REFINEMENT OF THE 5Q31 LOCALIZATION AND A PHYSICAL AND GENETIC-MAP OF THE INTERVAL
Authors: BARTOLONI L HORRIGAN SK ZHANG Y VILES K GILCHRIST JM VANCE JM YAMAOKA LH PERICAKVANCE MA WESTBROOK CA SPEER MC
Citation: L. Bartoloni et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY 1A - REFINEMENT OF THE 5Q31 LOCALIZATION AND A PHYSICAL AND GENETIC-MAP OF THE INTERVAL, American journal of human genetics, 61(4), 1997, pp. 1552-1552
A RESOURCE FOR HUMAN ALLELE FREQUENCIES FOR POLYMORPHIC GENETIC-MARKERS
Authors: HAYNES CS SPEER MC BASS MP JORDAN M LENNON F RIMMLER JB SCOTT WK MENOLD M VANCE JM HAINES JL PERICAKVANCE MA
Citation: Cs. Haynes et al., A RESOURCE FOR HUMAN ALLELE FREQUENCIES FOR POLYMORPHIC GENETIC-MARKERS, American journal of human genetics, 61(4), 1997, pp. 1622-1622
CMT2 MAPPING PROGRESS - CONFIRMATION OF A 2ND LOCUS AND EVIDENCE FOR ADDITIONAL GENETIC-HETEROGENEITY
Authors: LENNON F PERICAKVANCE MA SPEER MC WEST SG MENOLD MM STAJICH JM WOLPERT CM SLOTTERBECK BD SAITO M TIM RW ROZEAR MP MIDDLETON LT TSUJI S VANCE JM
Citation: F. Lennon et al., CMT2 MAPPING PROGRESS - CONFIRMATION OF A 2ND LOCUS AND EVIDENCE FOR ADDITIONAL GENETIC-HETEROGENEITY, American journal of human genetics, 61(4), 1997, pp. 1645-1645
INVESTIGATIONS OF CANDIDATE GENES FOR NEURAL-TUBE DEFECTS IMPLICATED FROM MOUSE MODELS
Authors: MELVIN EC VILES KD MACKEY JF LUCAS A FRANKLIN A ALBRIGHT S AYLSWORTH A WORLEY G BREI T BURAN C VANCE JM PERICAKVANCE MA GEORGE TM SPEER MC
Citation: Ec. Melvin et al., INVESTIGATIONS OF CANDIDATE GENES FOR NEURAL-TUBE DEFECTS IMPLICATED FROM MOUSE MODELS, American journal of human genetics, 61(4), 1997, pp. 1666-1666
ANALYSIS OF CANDIDATE REGIONS IN IDIOPATHIC PARKINSON-DISEASE (PD)
Authors: YAMAOKA LH SCOTT WK STAJICH JM SPEER MC VANCE JM ROSES AD PERICAKVANCE MA
Citation: Lh. Yamaoka et al., ANALYSIS OF CANDIDATE REGIONS IN IDIOPATHIC PARKINSON-DISEASE (PD), American journal of human genetics, 61(4), 1997, pp. 1760-1760
A G-] A TRANSITION MUTATION IN THE N-TERMINAL GLOBULAR DOMAIN OF COL6A3 LEADS TO BETHLEM MYOPATHY
Authors: SPEER MC PAN TC ZHANG RZ PERICAKVANCE MA TANDAN R FRIES T STAJICH JM VILES KD VANCE JM CHU ML
Citation: Mc. Speer et al., A G-] A TRANSITION MUTATION IN THE N-TERMINAL GLOBULAR DOMAIN OF COL6A3 LEADS TO BETHLEM MYOPATHY, American journal of human genetics, 61(4), 1997, pp. 2035-2035
Risultati: 1-25 | 26-50 | 51-59