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Results: 1-25 | 26-49
Results: 1-25/49
VARIATION OF SITE-SPECIFIC METHYLATION PATTERNS IN THE FACTOR-VIII (F8C) GENE IN HUMAN SPERM DNA
Authors: MILLAR DS KRAWCZAK M COOPER DN
Citation: Ds. Millar et al., VARIATION OF SITE-SPECIFIC METHYLATION PATTERNS IN THE FACTOR-VIII (F8C) GENE IN HUMAN SPERM DNA, Human genetics, 103(2), 1998, pp. 228-233
GROSS DELETIONS OF THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE ARE PREDOMINANTLY OF MATERNAL ORIGIN AND COMMONLY ASSOCIATED WITH A LEARNING-DISABILITY, DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY
Authors: UPADHYAYA M RUGGIERI M MAYNARD J OSBORN M HARTOG C MUDD S PENTTINEN M CORDEIRO I PONDER M PONDER BAJ KRAWCZAK M COOPER DN
Citation: M. Upadhyaya et al., GROSS DELETIONS OF THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE ARE PREDOMINANTLY OF MATERNAL ORIGIN AND COMMONLY ASSOCIATED WITH A LEARNING-DISABILITY, DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY, Human genetics, 102(5), 1998, pp. 591-597
THE HUMAN GENE MUTATION DATABASE
Authors: COOPER DN BALL EV KRAWCZAK M
Citation: Dn. Cooper et al., THE HUMAN GENE MUTATION DATABASE, Nucleic acids research, 26(1), 1998, pp. 285-287
PATERNITY ASSESSMENT IN RHESUS MACAQUES (MACACA-MULATTA) - MULTILOCUSDNA-FINGERPRINTING AND PCR MARKER TYPING
Authors: NURNBERG P SAUERMANN U KAYSER M LANFER C MANZ E WIDDIG A BERARD J BERCOVITCH FB KESSLER M SCHMIDTKE J KRAWCZAK M
Citation: P. Nurnberg et al., PATERNITY ASSESSMENT IN RHESUS MACAQUES (MACACA-MULATTA) - MULTILOCUSDNA-FINGERPRINTING AND PCR MARKER TYPING, American journal of primatology, 44(1), 1998, pp. 1-18
P53 MUTATIONS, BENZO[A]PYRENE AND LUNG-CANCER
Authors: KRAWCZAK M COOPER DN
Citation: M. Krawczak et Dn. Cooper, P53 MUTATIONS, BENZO[A]PYRENE AND LUNG-CANCER, Mutagenesis, 13(4), 1998, pp. 319-320
CONTRACTING FOR CLINICAL GENETIC SERVICES - THE WELSH MODEL
Authors: HUGHES HE ALDERMAN JK KRAWCZAK M ROGERS C
Citation: He. Hughes et al., CONTRACTING FOR CLINICAL GENETIC SERVICES - THE WELSH MODEL, Journal of Medical Genetics, 35(4), 1998, pp. 309-313
NEIGHBORING-NUCLEOTIDE EFFECTS ON THE RATES OF GERM-LINE SINGLE-BASE-PAIR SUBSTITUTION IN HUMAN GENES
Authors: KRAWCZAK M BALL EV COOPER DN
Citation: M. Krawczak et al., NEIGHBORING-NUCLEOTIDE EFFECTS ON THE RATES OF GERM-LINE SINGLE-BASE-PAIR SUBSTITUTION IN HUMAN GENES, American journal of human genetics, 63(2), 1998, pp. 474-488
ANALYSIS OF MOLECULAR VARIANCE (AMOVA) OF Y-CHROMOSOME-SPECIFIC MICROSATELLITES IN 2 CLOSELY-RELATED HUMAN-POPULATIONS (VOL 5, PG 1029, 1996)
Authors: ROEWER L KAYSER M DIELTJES P NAGY M BAKKER E KRAWCZAK M DEKNIJFF P
Citation: L. Roewer et al., ANALYSIS OF MOLECULAR VARIANCE (AMOVA) OF Y-CHROMOSOME-SPECIFIC MICROSATELLITES IN 2 CLOSELY-RELATED HUMAN-POPULATIONS (VOL 5, PG 1029, 1996), Human molecular genetics, 6(5), 1997, pp. 828-828
MOLECULAR-GENETIC AND PHENOTYPIC ANALYSIS REVEALS DIFFERENCES BETWEENTSC1 AND TSC2 ASSOCIATED FAMILIAL AND SPORADIC TUBEROUS SCLEROSIS
Authors: JONES AC DANIELLS CE SNELL RG TACHATAKI M IDZIASZCZYK SA KRAWCZAK M SAMPSON JR CHEADLE JP
Citation: Ac. Jones et al., MOLECULAR-GENETIC AND PHENOTYPIC ANALYSIS REVEALS DIFFERENCES BETWEENTSC1 AND TSC2 ASSOCIATED FAMILIAL AND SPORADIC TUBEROUS SCLEROSIS, Human molecular genetics, 6(12), 1997, pp. 2155-2161
EVALUATION OF Y-CHROMOSOMAL STRS - A MULTICENTER STUDY
Authors: KAYSER M CAGLIA A CORACH D FRETWELL N GEHRIG C GRAZIOSI G HEIDORN F HERRMANN S HERZOG B HIDDING M HONDA K JOBLING M KRAWCZAK M LEIM K MEUSER S MEYER E OESTERREICH W PANDYA A PARSON W PENACINO G PEREZLEZAUN A PICCININI A PRINZ M SCHMITT C SCHNEIDER PM SZIBOR R TEIFELGREDING J WEICHOLD G DEKNIJFF P ROEWER L
Citation: M. Kayser et al., EVALUATION OF Y-CHROMOSOMAL STRS - A MULTICENTER STUDY, International journal of legal medicine, 110(3), 1997, pp. 125
CHROMOSOME-Y MICROSATELLITES - POPULATION GENETIC AND EVOLUTIONARY ASPECTS
Authors: DEKNIJFF P KAYSER M CAGLIA A CORACH D FRETWELL N GEHRIG C GRAZIOSI G HEIDORN F HERRMANN S HERZOG B HIDDING M HONDA K JOBLING M KRAWCZAK M LEIM K MEUSER S MEYER E OESTERREICH W PANDYA A PARSON W PENACINO G PEREZLEZAUN A PICCININI A PRINZ M SCHMITT C SCHNEIDER PM SZIBOR R TEIFELGREDING J WEICHHOLD G ROEWER L
Citation: P. Deknijff et al., CHROMOSOME-Y MICROSATELLITES - POPULATION GENETIC AND EVOLUTIONARY ASPECTS, International journal of legal medicine, 110(3), 1997, pp. 134-149
POSSIBLE ASSOCIATION OF THE ALLELE STATUS OF THE CS.7 HHAI POLYMORPHISM-5' OF THE CFTR GENE WITH POSTNATAL FEMALE SURVIVAL/
Authors: MACEK M MACEK M KREBSOVA A NASH E HAMOSH A REIS A VARONMATEEVA R SCHMIDTKE J MAESTRI NE SPERLING K KRAWCZAK M CUTTING GR
Citation: M. Macek et al., POSSIBLE ASSOCIATION OF THE ALLELE STATUS OF THE CS.7 HHAI POLYMORPHISM-5' OF THE CFTR GENE WITH POSTNATAL FEMALE SURVIVAL/, Human genetics, 99(5), 1997, pp. 565-572
CHARACTERIZATION AND SIGNIFICANCE OF 9 NOVEL MUTATIONS IN EXON-16 OF THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE
Authors: MAYNARD J KRAWCZAK M UPADHYAYA M
Citation: J. Maynard et al., CHARACTERIZATION AND SIGNIFICANCE OF 9 NOVEL MUTATIONS IN EXON-16 OF THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE, Human genetics, 99(5), 1997, pp. 674-676
HOMOLOGY MODELING OF THE CATALYTIC DOMAIN OF EARLY MAMMALIAN PROTEIN-C - EVOLUTION OF STRUCTURAL FEATURES
Authors: WACEY AI KRAWCZAK M KEMBALLCOOK G COOPER DN
Citation: Ai. Wacey et al., HOMOLOGY MODELING OF THE CATALYTIC DOMAIN OF EARLY MAMMALIAN PROTEIN-C - EVOLUTION OF STRUCTURAL FEATURES, Human genetics, 101(1), 1997, pp. 37-42
IDENTIFICATION OF MHC-MAMU-DQB1 ALLELE COMBINATIONS ASSOCIATED WITH RAPID DISEASE PROGRESSION IN RHESUS MACAQUES INFECTED WITH SIMIAN IMMUNODEFICIENCY VIRUS
Authors: SAUERMANN U KRAWCZAK M HUNSMANN G STAHLHENNIG C
Citation: U. Sauermann et al., IDENTIFICATION OF MHC-MAMU-DQB1 ALLELE COMBINATIONS ASSOCIATED WITH RAPID DISEASE PROGRESSION IN RHESUS MACAQUES INFECTED WITH SIMIAN IMMUNODEFICIENCY VIRUS, AIDS, 11(9), 1997, pp. 1196-1198
A PATERNITY CASE WITH APPARENTLY CONFLICTING MULTILOCUS AND SINGLE-LOCUS DNA TYPING RESULTS
Authors: KUHNAU W BOHM I KRAWCZAK M SCHMIDTKE J
Citation: W. Kuhnau et al., A PATERNITY CASE WITH APPARENTLY CONFLICTING MULTILOCUS AND SINGLE-LOCUS DNA TYPING RESULTS, Electrophoresis, 18(9), 1997, pp. 1598-1601
APPLICATIONS OF MICROSATELLITE-BASED Y-CHROMOSOME HAPLOTYPING
Authors: KAYSER M DEKNIJFF P DIELTJES P KRAWCZAK M NAGY M ZERJAL T PANDYA A TYLERSMITH C ROEWER L
Citation: M. Kayser et al., APPLICATIONS OF MICROSATELLITE-BASED Y-CHROMOSOME HAPLOTYPING, Electrophoresis, 18(9), 1997, pp. 1602-1607
THE HUMAN-GENE-MUTATION-DATABASE
Authors: KRAWCZAK M COOPER DN
Citation: M. Krawczak et Dn. Cooper, THE HUMAN-GENE-MUTATION-DATABASE, Trends in genetics, 13(3), 1997, pp. 121-122
MEIOTIC MICRODELETION BREAKPOINTS IN THE BRCA1 GENE ARE SIGNIFICANTLYASSOCIATED WITH SYMMETRICAL DNA-SEQUENCE ELEMENTS
Authors: SCHMUCKER B KRAWCZAK M
Citation: B. Schmucker et M. Krawczak, MEIOTIC MICRODELETION BREAKPOINTS IN THE BRCA1 GENE ARE SIGNIFICANTLYASSOCIATED WITH SYMMETRICAL DNA-SEQUENCE ELEMENTS, American journal of human genetics, 61(6), 1997, pp. 1454-1456
DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT OF INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE, AND IMPLICATIONS FOR GENETIC-COUNSELING
Authors: WIRTH B SCHMIDT T HAHNEN E RUDNIKSCHONEBORN S KRAWCZAK M MULLERMYHSOK B SCHONLING J ZERRES K
Citation: B. Wirth et al., DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT OF INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE, AND IMPLICATIONS FOR GENETIC-COUNSELING, American journal of human genetics, 61(5), 1997, pp. 1102-1111
A SEX BIAS IN THE ORIGIN OF NEW MUTATIONS IN THE NF1 GENE - THE NATURE OF MUTATIONS AND THEIR POSSIBLE MOLECULAR MECHANISMS
Authors: UPADHYAYA M MAYNARD J RUGGIERI M HUSON S PONDER M KRAWCZAK M PONDER BAJ COOPER DN
Citation: M. Upadhyaya et al., A SEX BIAS IN THE ORIGIN OF NEW MUTATIONS IN THE NF1 GENE - THE NATURE OF MUTATIONS AND THEIR POSSIBLE MOLECULAR MECHANISMS, American journal of human genetics, 61(4), 1997, pp. 2045-2045
DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE AND IMPLICATIONS FOR GENETIC-COUNSELING
Authors: WIRTH B SCHMIDT T HAHNEN E RUDNIKSCHONEBORN S KRAWCZAK M MULLERMYHSOK B SCHONLING J ZERRES K
Citation: B. Wirth et al., DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE AND IMPLICATIONS FOR GENETIC-COUNSELING, American journal of human genetics, 61(4), 1997, pp. 2057-2057
SINGLE BASE-PAIR SUBSTITUTIONS IN PATHOLOGY AND EVOLUTION - 2 SIDES TO THE SAME COIN
Authors: KRAWCZAK M COOPER DN
Citation: M. Krawczak et Dn. Cooper, SINGLE BASE-PAIR SUBSTITUTIONS IN PATHOLOGY AND EVOLUTION - 2 SIDES TO THE SAME COIN, Human mutation, 8(1), 1996, pp. 23-31
NOVEL AND UNUSUAL DELETION-INSERTION THALASSEMIC MUTATION IN EXON-1 OF THE BETA-GLOBIN GENE
Authors: BADENS C THURET I MICHEL G KRAWCZAK M MATTEI JF LENARUSSO D LABIE D ELION J
Citation: C. Badens et al., NOVEL AND UNUSUAL DELETION-INSERTION THALASSEMIC MUTATION IN EXON-1 OF THE BETA-GLOBIN GENE, Human mutation, 8(1), 1996, pp. 89-92
ANALYSIS OF MOLECULAR VARIANCE (AMOVA) OF Y-CHROMOSOME-SPECIFIC MICROSATELLITES IN 2 CLOSELY-RELATED HUMAN-POPULATIONS
Authors: ROEWER L KAYSER M DIELTJES P NAGY M BAKKER E KRAWCZAK M DEKNIJFF P
Citation: L. Roewer et al., ANALYSIS OF MOLECULAR VARIANCE (AMOVA) OF Y-CHROMOSOME-SPECIFIC MICROSATELLITES IN 2 CLOSELY-RELATED HUMAN-POPULATIONS, Human molecular genetics, 5(7), 1996, pp. 1029-1033
Risultati: 1-25 | 26-49