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Results: 1-25 | 26-50 | 51-56
Results: 1-25/56
FRA10B STRUCTURE REVEALS COMMON ELEMENTS IN REPEAT EXPANSION AND CHROMOSOMAL FRAGILE SITE GENESIS
Authors: HEWETT DR HANDT O HOBSON L MANGELSDORF M EYRE HJ BAKER E SUTHERLAND GR SCHUFFENHAUER S MAO J RICHARDS RI
Citation: Dr. Hewett et al., FRA10B STRUCTURE REVEALS COMMON ELEMENTS IN REPEAT EXPANSION AND CHROMOSOMAL FRAGILE SITE GENESIS, MOLECULAR CELL, 1(6), 1998, pp. 773-781
CAG REPEAT EXPANSION IN AUTOSOMAL-DOMINANT FAMILIAL SPASTIC PARAPARESIS - NOVEL EXPANSION IN A SUBSET OF PATIENTS
Authors: BENSON KF HORWITZ M WOLFF J FRIEND K THOMPSON E WHITE S RICHARDS RI RASKIND WH BIRD TD
Citation: Kf. Benson et al., CAG REPEAT EXPANSION IN AUTOSOMAL-DOMINANT FAMILIAL SPASTIC PARAPARESIS - NOVEL EXPANSION IN A SUBSET OF PATIENTS, Human molecular genetics (Print), 7(11), 1998, pp. 1779-1786
DYNAMIC MUTATION - POSSIBLE MECHANISMS AND SIGNIFICANCE IN HUMAN-DISEASE
Authors: RICHARDS RI SUTHERLAND GR
Citation: Ri. Richards et Gr. Sutherland, DYNAMIC MUTATION - POSSIBLE MECHANISMS AND SIGNIFICANCE IN HUMAN-DISEASE, Trends in biochemical sciences, 22(11), 1997, pp. 432-436
A HIGH-RESOLUTION GENETIC-MAP OF THE FAMILIAL MEDITERRANEAN FEVER CANDIDATE REGION ALLOWS IDENTIFICATION OF HAPLOTYPE-SHARING AMONG ETHNIC-GROUPS
Authors: BALOW JE SHELTON DA ORSBORN A MANGELSDORF M AKSENTIJEVICH I BLAKE T SOOD R GARDNER D LIU R PRAS E LEVY EN CENTOLA M DENG ZM ZAKS N WOOD G CHEN XG RICHARDS N SHOHAT M LIVNEH A PRAS M DOGGETT NA COLLINS FS LIU PP ROTTER JI FISCHELGHODSIAN N GUMUCIO D RICHARDS RI KASTNER DL
Citation: Je. Balow et al., A HIGH-RESOLUTION GENETIC-MAP OF THE FAMILIAL MEDITERRANEAN FEVER CANDIDATE REGION ALLOWS IDENTIFICATION OF HAPLOTYPE-SHARING AMONG ETHNIC-GROUPS, Genomics, 44(3), 1997, pp. 280-291
CHROMOSOMAL LOCALIZATION OF THE HUMAN P2Y(6) PURINOCEPTOR GENE AND PHYLOGENETIC ANALYSIS OF THE P2Y PURINOCEPTOR FAMILY
Authors: SOMERS GR HAMMET F WOOLLATT E RICHARDS RI SOUTHEY MC VENTER DJ
Citation: Gr. Somers et al., CHROMOSOMAL LOCALIZATION OF THE HUMAN P2Y(6) PURINOCEPTOR GENE AND PHYLOGENETIC ANALYSIS OF THE P2Y PURINOCEPTOR FAMILY, Genomics, 44(1), 1997, pp. 127-130
CONSTRUCTION OF A 1-MB RESTRICTION-MAPPED COSMID CONTIG CONTAINING THE CANDIDATE REGION FOR THE FAMILIAL MEDITERRANEAN FEVER LOCUS (MEFV) ON CHROMOSOME 16P13.3
Authors: SOOD R BLAKE T AKSENTIJEVICH I WOOD G CHEN X GARDNER D SHELTON DA MANGELSDORF M ORSBORN A PRAS E BALOW JE CENTOLA M DENG ZM ZAKS N CHEN XG RICHARDS N FISCHELGHODSIAN N ROTTER JI PRAS M SHOHAT M DEAVEN LL GUMUCIO DL CALLEN DF RICHARDS RI COLLINS FS LIU PP KASTNER DL DOGGETT NA
Citation: R. Sood et al., CONSTRUCTION OF A 1-MB RESTRICTION-MAPPED COSMID CONTIG CONTAINING THE CANDIDATE REGION FOR THE FAMILIAL MEDITERRANEAN FEVER LOCUS (MEFV) ON CHROMOSOME 16P13.3, Genomics, 42(1), 1997, pp. 83-95
MARFAN DATABASE (2ND EDITION) - SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN FBN1 GENE
Authors: COLLODBEROUD G BEROUD C ADES L BLACK C BOXER M BROCK DJ GODFREY M HAYWARD C KARTTUNEN L MILEWICZ D PELTONEN L RICHARDS RI WANG M JUNIEN C BOILEAU C
Citation: G. Collodberoud et al., MARFAN DATABASE (2ND EDITION) - SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN FBN1 GENE, Nucleic acids research, 25(1), 1997, pp. 147-150
UNBALANCED T(4-11)(Q32-Q23) IN A 34-YEAR-OLD MAN WITH MANIFESTATIONS OF DISTAL MONOSOMY 11Q AND TRISOMY 4Q SYNDROMES
Authors: BYATT SA BAKER E RICHARDS RI ROBERTS C SMITH A
Citation: Sa. Byatt et al., UNBALANCED T(4-11)(Q32-Q23) IN A 34-YEAR-OLD MAN WITH MANIFESTATIONS OF DISTAL MONOSOMY 11Q AND TRISOMY 4Q SYNDROMES, American journal of medical genetics, 70(4), 1997, pp. 357-360
ANCIENT MISSENSE MUTATIONS IN A NEW MEMBER OF THE RORET GENE FAMILY ARE LIKELY TO CAUSE FAMILIAL MEDITERRANEAN FEVER
Authors: AKSENTIJEVICH I CENTOLA M DENG ZM SOOD R BALOW JE WOOD G ZAKS N MANSFIELD E CHEN X EISENBERG S VEDULA A SHAFRAN N RABEN N PRAS E PRAS M KASTNER DL BLAKE T BAXEVANIS AD ROBBINS C KRIZMAN D COLLINS FS LIU PP CHEN XG SHOHAT M HAMON M KAHAN T CERCEK A ROTTER JI FISCHELGHODSIAN N RICHARDS N SHELTON DA GUMUCIO D YOKOYAMA Y MANGELSDORF M ORSBORN A RICHARDS RI RICKE DO BUCKINGHAM JM MOYZIS RK DEAVEN LL DOGGETT NA
Citation: I. Aksentijevich et al., ANCIENT MISSENSE MUTATIONS IN A NEW MEMBER OF THE RORET GENE FAMILY ARE LIKELY TO CAUSE FAMILIAL MEDITERRANEAN FEVER, Cell, 90(4), 1997, pp. 797-807
HUMAN CHROMOSOMAL FRAGILE SITE FRA16B IS AN AMPLIFIED AT-RICH MINISATELLITE REPEAT
Authors: YU S MANGELSDORF M HEWETT D HOBSON L BAKER E EYRE HJ LAPSYS N LEPASLIER D DOGGETT NA SUTHERLAND GR RICHARDS RI
Citation: S. Yu et al., HUMAN CHROMOSOMAL FRAGILE SITE FRA16B IS AN AMPLIFIED AT-RICH MINISATELLITE REPEAT, Cell, 88(3), 1997, pp. 367-374
LOCALIZATION OF A 10Q BREAKPOINT WITHIN THE PAX2 GENE IN A PATIENT WITH A DE-NOVO T(10-13) TRANSLOCATION AND OPTIC-NERVE COLOBOMA RENAL-DISEASE
Authors: NARAHARA K BAKER E ITO S YOKOYAMA Y YU S HEWITT D SUTHERLAND GR ECCLES MR RICHARDS RI
Citation: K. Narahara et al., LOCALIZATION OF A 10Q BREAKPOINT WITHIN THE PAX2 GENE IN A PATIENT WITH A DE-NOVO T(10-13) TRANSLOCATION AND OPTIC-NERVE COLOBOMA RENAL-DISEASE, Journal of Medical Genetics, 34(3), 1997, pp. 213-216
A CHROMOSOME-16 LOCUS FOR FAMILIAL LEUKEMIA
Authors: HORWITZ M BENSON KF LI FQ WOLFF J LEPPERT MF OLOPADE F HOBSON L MANGELSDORF M YU S HEWETT D RICHARDS RI RASKIND WH
Citation: M. Horwitz et al., A CHROMOSOME-16 LOCUS FOR FAMILIAL LEUKEMIA, American journal of human genetics, 61(4), 1997, pp. 372-372
POSITIONAL CLONING OF THE BROMODEOXYURIDINE-INDUCIBLE FRAGILE SITE ONHUMAN-CHROMOSOME 10Q25.2
Authors: HEWETT DR HANDT O HOBSON L MANGELSDORF M EYRE H SUTHERLAND GR SCHUFFENHAUER S RICHARDS RI
Citation: Dr. Hewett et al., POSITIONAL CLONING OF THE BROMODEOXYURIDINE-INDUCIBLE FRAGILE SITE ONHUMAN-CHROMOSOME 10Q25.2, American journal of human genetics, 61(4), 1997, pp. 723-723
IDENTIFICATION OF FMF POSITIONAL CANDIDATE GENES WITHIN A 115-KB INTERVAL DEFINED BY HISTORICAL RECOMBINANTS
Authors: DENG Z AKSENTIJEVICH I BALOW JE BLAKE T CENTOLA M CHEN X COLLINS FS DOGGETT N FISCHELGHODSIAN N GUMUCIO D LIU P PRAS E PRAS M RICHARDS N RICHARDS RI RICKE DO ROTTER JI SHOHAT M SOOD R WOOD G YOKOYAMA Y ZAKS N KASTNER DL
Citation: Z. Deng et al., IDENTIFICATION OF FMF POSITIONAL CANDIDATE GENES WITHIN A 115-KB INTERVAL DEFINED BY HISTORICAL RECOMBINANTS, American journal of human genetics, 61(4), 1997, pp. 1356-1356
EXCLUSION OF CANDIDATE SPINOCEREBELLAR ATAXIA (SCA) LOCI PROVIDES EVIDENCE FOR A NEW SCA LOCUS
Authors: FRIEND K DUDDING T EDWARDS M SUTHERLAND GR MULLEY JC RICHARDS RI
Citation: K. Friend et al., EXCLUSION OF CANDIDATE SPINOCEREBELLAR ATAXIA (SCA) LOCI PROVIDES EVIDENCE FOR A NEW SCA LOCUS, American journal of human genetics, 61(4), 1997, pp. 2336-2336
REPEAT OFFENDERS - SIMPLE REPEAT SEQUENCES AND COMPLEX GENETIC PROBLEMS
Authors: RICHARDS RI SUTHERLAND GR
Citation: Ri. Richards et Gr. Sutherland, REPEAT OFFENDERS - SIMPLE REPEAT SEQUENCES AND COMPLEX GENETIC PROBLEMS, Human mutation, 8(1), 1996, pp. 1-7
INHIBITOR OF T-LYMPHOCYTE APOPTOSIS (ITA) - MAP POSITION 11Q22
Authors: NICHOLL JK RICHARDS RI LOWENTHAL JW BOWTELL DDL DIGBY MR
Citation: Jk. Nicholl et al., INHIBITOR OF T-LYMPHOCYTE APOPTOSIS (ITA) - MAP POSITION 11Q22, Chromosome research, 4(1), 1996, pp. 81-81
A HIGHLY INTEGRATED PHYSICAL MAP OF HUMAN-CHROMOSOME-16
Authors: DOGGETT NA CALLEN DF GOODWIN LA TESMER JG MEINCKE LJ BRUCE DC ALTHERR MR FORD AA TORNEY DC SUTHERLAND RD LOWENSTEIN MG MUNDT MO BRUNO WJ KNILL EH DEAVEN LL SUTHERLAND GR RICHARDS RI MOYZIS RK
Citation: Na. Doggett et al., A HIGHLY INTEGRATED PHYSICAL MAP OF HUMAN-CHROMOSOME-16, Cytogenetics and cell genetics, 72(4), 1996, pp. 8-8
HIGH-RESOLUTION PHYSICAL MAP OF THE REGION SPANNING THE MEF LOCUS AT 16P13
Authors: SOOD R AKSENTIJEVICH I ALTHERR M APOSTOLOU S BALOW JE BLAKE T CALLEN DF CENTOLA M CHEN X CHEN X COLLINS FS DOGGETT NA FISCHELGHODSIAN N GARDNER D GUMUCIO D KRIZMAN DB KRUGLYAK L LEVY E LIU P MARRONE BL PRAS E PRAS M RICHARDS RI ROTTER JI SHELTON D SHOHAT M WOOD G KASTNER DL
Citation: R. Sood et al., HIGH-RESOLUTION PHYSICAL MAP OF THE REGION SPANNING THE MEF LOCUS AT 16P13, Cytogenetics and cell genetics, 72(4), 1996, pp. 21-21
CHARACTERIZATION OF 4 NOVEL FIBRILLIN-1 (FBN1) MUTATIONS IN MARFAN-SYNDROME
Authors: ADES LC HAAN EA COLLEY AF RICHARDS RI
Citation: Lc. Ades et al., CHARACTERIZATION OF 4 NOVEL FIBRILLIN-1 (FBN1) MUTATIONS IN MARFAN-SYNDROME, Journal of Medical Genetics, 33(8), 1996, pp. 665-671
DYNAMIC MUTATION LOCI - ALLELE DISTRIBUTIONS IN DIFFERENT POPULATIONS
Authors: RICHARDS RI CRAWFORD J NARAHARA K MANGELSDORF M FRIEND K STAPLES A DENTON M EASTEAL S HORI TA KONDO I JENKINS T GOLDMAN A PANICH V FERAKOVA E SUTHERLAND GR
Citation: Ri. Richards et al., DYNAMIC MUTATION LOCI - ALLELE DISTRIBUTIONS IN DIFFERENT POPULATIONS, Annals of Human Genetics, 60, 1996, pp. 391-400
LINKAGE DISEQUILIBRIUM MAPPING PLACES THE GENE CAUSING FAMILIAL MEDITERRANEAN FEVER CLOSE TO D16S246
Authors: LEVY EN SHEN Y KUPELIAN A KRUGLYAK L AKSENTIJEVICH I PRAS E BALOW JE LINZER B CHEN XG SHELTON DA GUMUCIO D PRAS M SHOHAT M ROTTER JI FISCHELGHODSIAN N RICHARDS RI KASTNER DL
Citation: En. Levy et al., LINKAGE DISEQUILIBRIUM MAPPING PLACES THE GENE CAUSING FAMILIAL MEDITERRANEAN FEVER CLOSE TO D16S246, American journal of human genetics, 58(3), 1996, pp. 523-534
MOLECULAR-BASIS OF P(CCG)N REPEAT INSTABILITY AT THE FRA16A FRAGILE SITE LOCUS
Authors: NANCARROW JK HOLMAN K MANGELSDORF M HORI T DENTON M SUTHERLAND GR RICHARDS RI
Citation: Jk. Nancarrow et al., MOLECULAR-BASIS OF P(CCG)N REPEAT INSTABILITY AT THE FRA16A FRAGILE SITE LOCUS, Human molecular genetics, 4(3), 1995, pp. 367-372
REFINED LOCALIZATION OF THE GENE CAUSING FAMILIAL MEDITERRANEAN FEVER
Authors: AKSENTIJEVICH I CHEN X BALOW JE LEVY E PRAS E GARDNER D PRAS M FISCHELGHODSIAN N KUPELIAN A SHOHAT M ROTTER JI SHEN Y RICHARDS RI CALLEN DF DOGGETT NA LIU P BLAKE T SHELTON D GUMUCIO D KASTNER DL
Citation: I. Aksentijevich et al., REFINED LOCALIZATION OF THE GENE CAUSING FAMILIAL MEDITERRANEAN FEVER, Cytogenetics and cell genetics, 68(3-4), 1995, pp. 178-178
AN INTEGRATED PHYSICAL GENETIC CYTOGENETIC MAP OF HUMAN-CHROMOSOME-16
Authors: DOGGETT NA CALLEN DF DUESING LA TESMER JG MEINCKE LJ BRUCE DC ALTHERR MR FORD AA TORNEY DC SUTHERLAND RD LOWENSTEIN MG MUNDT MO BRUNO WJ KNILL EH DEAVEN LL SUTHERLAND GR RICHARDS RI MOYZIS RK
Citation: Na. Doggett et al., AN INTEGRATED PHYSICAL GENETIC CYTOGENETIC MAP OF HUMAN-CHROMOSOME-16, Cytogenetics and cell genetics, 68(3-4), 1995, pp. 180-181
Risultati: 1-25 | 26-50 | 51-56