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Results: 1-25/227
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
LINKAGE OF THE MHC TO FAMILIAL MULTIPLE-SCLEROSIS SUGGESTS GENETIC-HETEROGENEITY
Authors: HAINES JL TERWEDOW HA BURGESS K PERICAKVANCE MA RIMMLER JB MARTIN ER OKSENBERG JR LINCOLN R ZHANG DY BANATAO DR GATTO N GOODKIN DE HAUSER SL
Citation: Jl. Haines et al., LINKAGE OF THE MHC TO FAMILIAL MULTIPLE-SCLEROSIS SUGGESTS GENETIC-HETEROGENEITY, Human molecular genetics (Print), 7(8), 1998, pp. 1229-1234
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
A NOVEL LONG AND UNSTABLE CAG CTG TRINUCLEOTIDE REPEAT ON CHROMOSOME 17Q/
Authors: IKEUCHI T SANPEI K TAKANO H SASAKI H TASHIRO K CANCEL G BRICE A BIRD TD SCHELLENBERG GD PERICAKVANCE MA WELSHBOHMER KA CLARK LN WILHELMSEN K TSUJI S
Citation: T. Ikeuchi et al., A NOVEL LONG AND UNSTABLE CAG CTG TRINUCLEOTIDE REPEAT ON CHROMOSOME 17Q/, Genomics, 49(2), 1998, pp. 321-326
ASSOCIATION BETWEEN BLEOMYCIN HYDROLASE AND ALZHEIMERS-DISEASE IN CAUCASIANS
Authors: FARRER LA ABRAHAM CR HAINES JL ROGAEVA EA SONG YQ MCGRAW WT BRINDLE N PREMKUMAR S SCOTT WK YAMAOKA LH SAUNDERS AM ROSES AD AUERBACH SA SORBI S DUARA R PERICAKVANCE MA STGEORGEHYSLOP PH
Citation: La. Farrer et al., ASSOCIATION BETWEEN BLEOMYCIN HYDROLASE AND ALZHEIMERS-DISEASE IN CAUCASIANS, Annals of neurology, 44(5), 1998, pp. 808-811
CLINICAL DEMOGRAPHICS OF MULTIPLEX FAMILIES WITH MULTIPLE-SCLEROSIS
Authors: GOODKIN DE GATTO N ROJAS N LINCOLN R OKSENBERG JR HAUSER SL HAINES JL TERWEDOW H PERICAKVANCE MA JORDAN M SCOTT WK RIMMLER JB
Citation: De. Goodkin et al., CLINICAL DEMOGRAPHICS OF MULTIPLEX FAMILIES WITH MULTIPLE-SCLEROSIS, Annals of neurology, 43(4), 1998, pp. 530-534
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
NO ASSOCIATION OF ALPHA(1)-ANTICHYMOTRYPSIN FLANKING REGION POLYMORPHISM AND ALZHEIMER-DISEASE RISK IN EARLY-ONSET AND LATE-ONSET ALZHEIMER-DISEASE PATIENTS
Authors: BASS MP YAMAOKA LH SCOTT WK GASKELL PC WELSHBOHMER KA ROSES AD SAUNDERS AM HAINES JL PERICAKVANCE MA
Citation: Mp. Bass et al., NO ASSOCIATION OF ALPHA(1)-ANTICHYMOTRYPSIN FLANKING REGION POLYMORPHISM AND ALZHEIMER-DISEASE RISK IN EARLY-ONSET AND LATE-ONSET ALZHEIMER-DISEASE PATIENTS, Neuroscience letters, 250(2), 1998, pp. 79-82
COMPLETE GENOMIC SCREEN IN LATE-ONSET FAMILIAL ALZHEIMERS-DISEASE
Authors: PERICAKVANCE MA BASS ML YAMAOKA LH GASKELL PC SCOTT WK TERWEDOW HA MENOLD MM CONNEALLY PM SMALL GW SAUNDERS AM ROSES AD HAINES JL
Citation: Ma. Pericakvance et al., COMPLETE GENOMIC SCREEN IN LATE-ONSET FAMILIAL ALZHEIMERS-DISEASE, Neurobiology of aging, 19(1), 1998, pp. 39-42
GLN368STOP MYOCILIN MUTATION IN FAMILIES WITH LATE-ONSET PRIMARY OPEN-ANGLE GLAUCOMA
Authors: ALLINGHAM RR WIGGS JL DELAPAZ MA VOLLRATH D TALLETT DA BROOMER B JONES KH DELBONO EA KERN J PATTERSON K HAINES JL PERICAKVANCE MA
Citation: Rr. Allingham et al., GLN368STOP MYOCILIN MUTATION IN FAMILIES WITH LATE-ONSET PRIMARY OPEN-ANGLE GLAUCOMA, Investigative ophthalmology & visual science, 39(12), 1998, pp. 2288-2295
EFFECTS OF AGE AND ETHNICITY ON THE LINK BETWEEN APOE EPSILON-4 AND ALZHEIMER-DISEASE - REPLY
Authors: FARRER LA CUPPLES LA MYERS RH VANDUIJN CM MAYEUX R HAINES JL KUKULL WA HYMAN B PERICAKVANCE MA RISCH N
Citation: La. Farrer et al., EFFECTS OF AGE AND ETHNICITY ON THE LINK BETWEEN APOE EPSILON-4 AND ALZHEIMER-DISEASE - REPLY, JAMA, the journal of the American Medical Association, 279(8), 1998, pp. 581-582
POTENTIAL CHROMOSOME-12 LOCUS FOR LATE-ONSET FAMILIAL ALZHEIMER-DISEASE - REPLY
Authors: PERICAKVANCE MA HAINES JL
Citation: Ma. Pericakvance et Jl. Haines, POTENTIAL CHROMOSOME-12 LOCUS FOR LATE-ONSET FAMILIAL ALZHEIMER-DISEASE - REPLY, JAMA, the journal of the American Medical Association, 279(6), 1998, pp. 433-433
LEWY BODY (LB) AND ALZHEIMER PATHOLOGY IN FAMILIES WITH THE AMYLOID PRECURSOR PROTEIN (APP717) GENE MUTATION
Authors: HULETTE CM ROSENBERG CK PERICAKVANCE MA GILBERT JR GASKELL PC ROSES AD
Citation: Cm. Hulette et al., LEWY BODY (LB) AND ALZHEIMER PATHOLOGY IN FAMILIES WITH THE AMYLOID PRECURSOR PROTEIN (APP717) GENE MUTATION, Neurology, 50(4), 1998, pp. 4106-4106
AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH-DISEASE - CLINICAL AND GENETIC-ASPECTS
Authors: BENOTHMANE K ROCHELLE JM JOHNSON E LENNON F HENTATI F BENHAMIDA M PERICAKVANCE MA
Citation: K. Benothmane et al., AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH-DISEASE - CLINICAL AND GENETIC-ASPECTS, Neurology, 50(4), 1998, pp. 4122-4122
A GENOMIC SCREEN IN EXTENDED AMISH FAMILIES WITH ALZHEIMERS-DISEASE SUPPORTS A LOCUS ON CHROMOSOME-12
Authors: PERICAKVANCE MA RIMMLER JB GASKELL PC ABOUDONIA S WELSHBOHMER KA JACKSON CE SCHAMEL MA YAMAOKA LH HAINES JL
Citation: Ma. Pericakvance et al., A GENOMIC SCREEN IN EXTENDED AMISH FAMILIES WITH ALZHEIMERS-DISEASE SUPPORTS A LOCUS ON CHROMOSOME-12, Neurology, 50(4), 1998, pp. 53004-53004
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
COEXISTENCE OF MACULAR CORNEAL-DYSTROPHY TYPE-I AND TYPE-II IN A SINGLE SIBSHIP
Authors: LIU NP BALDWIN J LENNON F STAJICH JM THONAR EJMA PERICAKVANCE MA KLINTWORTH GK VANCE JM
Citation: Np. Liu et al., COEXISTENCE OF MACULAR CORNEAL-DYSTROPHY TYPE-I AND TYPE-II IN A SINGLE SIBSHIP, British journal of ophthalmology, 82(3), 1998, pp. 241-244
PREVALENCE OF MUTATIONS IN TIGR MYOCILIN IN PATIENTS WITH ADULT AND JUVENILE PRIMARY OPEN-ANGLE GLAUCOMA/
Authors: WIGGS JL ALLINGHAM RR VOLLRATH D JONES KH DELAPAZ M KERN J PATTERSON K RABB VL DELBONO A BROOMER BW PERICAKVANCE MA HAINES JL
Citation: Jl. Wiggs et al., PREVALENCE OF MUTATIONS IN TIGR MYOCILIN IN PATIENTS WITH ADULT AND JUVENILE PRIMARY OPEN-ANGLE GLAUCOMA/, American journal of human genetics, 63(5), 1998, pp. 1549-1552
HAPLOTYPE ANALYSIS IN ICELANDIC FAMILIES DEFINES A MINIMAL INTERVAL FOR THE MACULAR CORNEAL-DYSTROPHY TYPE-I GENE
Authors: LIU NP BALDWIN J JONASSON F DEWKNIGHT S STAJICH JM LENNON F PERICAKVANCE MA KLINTWORTH GK VANCE JM
Citation: Np. Liu et al., HAPLOTYPE ANALYSIS IN ICELANDIC FAMILIES DEFINES A MINIMAL INTERVAL FOR THE MACULAR CORNEAL-DYSTROPHY TYPE-I GENE, American journal of human genetics, 63(3), 1998, pp. 912-917
EVIDENCE FOR GENETIC-HETEROGENEITY SUPPORTS CLINICAL DIFFERENCES IN CONGENITAL MYASTHENIC SYNDROMES
Authors: MENOLD MM SADEH M LENNON F BLATT I GOLDHAMMER Y YAMAOKA LH VANCE JM PERICAKVANCE MA
Citation: Mm. Menold et al., EVIDENCE FOR GENETIC-HETEROGENEITY SUPPORTS CLINICAL DIFFERENCES IN CONGENITAL MYASTHENIC SYNDROMES, Human heredity, 48(6), 1998, pp. 325-332
ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA DOES NOT LOCALIZE TO CHROMOSOME 2CEN-Q13 IN NORTH-AMERICAN FAMILIES
Authors: ALLINGHAM RR WIGGS JL DAMJI KF HERNDON L YOUN J TALLETT DA JONES KH DELBONO EA REARDON M HAINES JL PERICAKVANCE MA
Citation: Rr. Allingham et al., ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA DOES NOT LOCALIZE TO CHROMOSOME 2CEN-Q13 IN NORTH-AMERICAN FAMILIES, Human heredity, 48(5), 1998, pp. 251-255
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
CLINICAL HETEROGENEITY OF FAMILIAL SPASTIC PARAPLEGIA LINKED TO CHROMOSOME 2P21
Authors: NANCE MA RAABE WA MIDANI H KOLODNY EH DAVID WS MEGNA L PERICAKVANCE MA HAINES JL
Citation: Ma. Nance et al., CLINICAL HETEROGENEITY OF FAMILIAL SPASTIC PARAPLEGIA LINKED TO CHROMOSOME 2P21, Human heredity, 48(3), 1998, pp. 169-178
A NOVEL SPLICE-SITE MUTATION (156-]A) IN THE TSC2 GENE(1G)
Authors: KUMAR A KANDT RS WOLPERT C ROSES AD PERICAKVANCE MA GILBERT JR
Citation: A. Kumar et al., A NOVEL SPLICE-SITE MUTATION (156-]A) IN THE TSC2 GENE(1G), Human mutation, 9(1), 1997, pp. 64-65
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