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Results: 1-25 | 26-26
Results: 1-25/26
GERMLINE MUTATIONS IN PERUVIAN PATIENTS WITH HEMOPHILIA-B - PATTERN OF MUTATION IN AMERINDIANS IS SIMILAR TO THE PUTATIVE ENDOGENOUS GERMLINE PATTERN
Authors: HEIT JA THORLAND EC KETTERLING RP LIND TJ DANIELS TM ZAPATA RE ORDONEZ SM KASPER CK SOMMER SS
Citation: Ja. Heit et al., GERMLINE MUTATIONS IN PERUVIAN PATIENTS WITH HEMOPHILIA-B - PATTERN OF MUTATION IN AMERINDIANS IS SIMILAR TO THE PUTATIVE ENDOGENOUS GERMLINE PATTERN, Human mutation, 11(5), 1998, pp. 372-376
CORRELATION BETWEEN MIB-I QUANTIFICATION BY IMAGE MORPHOMETRY AND PERCENT S-PHASE BY FLOW-CYTOMETRY IN BREAST-CANCER
Authors: KETTERLING RP SEBO TJ KATZMANN JA
Citation: Rp. Ketterling et al., CORRELATION BETWEEN MIB-I QUANTIFICATION BY IMAGE MORPHOMETRY AND PERCENT S-PHASE BY FLOW-CYTOMETRY IN BREAST-CANCER, Modern pathology, 11(1), 1998, pp. 185-185
THE FACTOR-IX GENE AS A MODEL FOR ANALYSIS OF HUMAN GERMLINE MUTATIONS - AN UPDATE
Authors: SOMMER SS KETTERLING RP
Citation: Ss. Sommer et Rp. Ketterling, THE FACTOR-IX GENE AS A MODEL FOR ANALYSIS OF HUMAN GERMLINE MUTATIONS - AN UPDATE, Human molecular genetics, 5, 1996, pp. 1505-1514
ABSENCE OF SOMATIC MOSAICISM IN 17 FAMILIES WITH HEMOPHILIA-B - AN ANALYSIS WITH A SENSITIVITY 10-FOLD TO 1000-FOLD GREATER-THAN THAT OF SEQUENCING GELS
Authors: KNOLL A KETTERLING RP SOMMER SS
Citation: A. Knoll et al., ABSENCE OF SOMATIC MOSAICISM IN 17 FAMILIES WITH HEMOPHILIA-B - AN ANALYSIS WITH A SENSITIVITY 10-FOLD TO 1000-FOLD GREATER-THAN THAT OF SEQUENCING GELS, Human genetics, 98(5), 1996, pp. 539-545
THE HUMAN FACTOR-IX GENE AS A MUTAGEN TEST - A NOVEL PATTERN OF GERMLINE MUTATION IN THE PEOPLES-REPUBLIC-OF-CHINA
Authors: SOMMER SS LIU JZ THORLAND EC LI X LIU Q LIND T KETTERLING RP ZHANG J CHEN H SHI Q
Citation: Ss. Sommer et al., THE HUMAN FACTOR-IX GENE AS A MUTAGEN TEST - A NOVEL PATTERN OF GERMLINE MUTATION IN THE PEOPLES-REPUBLIC-OF-CHINA, Blood, 88(10), 1996, pp. 145-145
2 NOVEL FACTOR-IX PROMOTER MUTATIONS - INCREMENTAL PROGRESS TOWARDS SATURATION-IN-VIVO-MUTAGENESIS OF A HUMAN PROMOTER REGION
Authors: KETTERLING RP LIU JZ LIAO DZ KASPER CK AMBRIZ R PAREDES R SOMMER SS
Citation: Rp. Ketterling et al., 2 NOVEL FACTOR-IX PROMOTER MUTATIONS - INCREMENTAL PROGRESS TOWARDS SATURATION-IN-VIVO-MUTAGENESIS OF A HUMAN PROMOTER REGION, Human molecular genetics, 4(4), 1995, pp. 769-770
GERMLINE MOSAICISM IN A FEMALE WHO SEEMED TO BE A CARRIER BY SEQUENCE-ANALYSIS
Authors: SOMMER SS KNOLL A GREENBERG CR KETTERLING RP
Citation: Ss. Sommer et al., GERMLINE MOSAICISM IN A FEMALE WHO SEEMED TO BE A CARRIER BY SEQUENCE-ANALYSIS, Human molecular genetics, 4(11), 1995, pp. 2181-2182
MOLECULAR EPIDEMIOLOGY OF FACTOR-IX GERMLINE MUTATIONS IN MEXICAN HISPANICS - PATTERN OF MUTATION AND POTENTIAL FOUNDER EFFECTS
Authors: THORLAND EC WEINSHENKER BG LIU JZ KETTERLING RP VIELHABER EL KASPER CK AMBRIZ R PAREDES R SOMMER SS
Citation: Ec. Thorland et al., MOLECULAR EPIDEMIOLOGY OF FACTOR-IX GERMLINE MUTATIONS IN MEXICAN HISPANICS - PATTERN OF MUTATION AND POTENTIAL FOUNDER EFFECTS, Thrombosis and haemostasis, 74(6), 1995, pp. 1416-1422
THE PATTERN OF SEQUENCE VARIATION IN FACTOR-IX GENES DURING PRIMATE EVOLUTION IS SIMILAR TO THE UNDERLYING PATTERN OF RECENT MUTATIONS IN PATIENTS WITH HEMOPHILIA-B
Authors: GROUSE LH KETTERLING RP LI X SOMMER SS
Citation: Lh. Grouse et al., THE PATTERN OF SEQUENCE VARIATION IN FACTOR-IX GENES DURING PRIMATE EVOLUTION IS SIMILAR TO THE UNDERLYING PATTERN OF RECENT MUTATIONS IN PATIENTS WITH HEMOPHILIA-B, Thrombosis and haemostasis, 73(6), 1995, pp. 1222-1222
FACTOR-VIII GENE INVERSIONS IN SEVERE HEMOPHILIA-A - RESULTS OF AN INTERNATIONAL CONSORTIUM STUDY
Authors: ANTONARAKIS SE ROSSITER JP YOUNG M HORST J DEMOERLOOSE P SOMMER SS KETTERLING RP KAZAZIAN HH NEGRIER C VINCIGUERRA C GITSCHIER J GOOSSENS M GIRODON E GHANEM N PLASSA F LAVERGNE JM VIDAUD M COSTA JM LAURIAN Y LIN SW LIN SR SHEN MC LILLICRAP D TAYLOR SAM WINDSOR S VALLEIX SV NAFA K SULTAN Y DELPECH M VNENCAKJONES CL PHILLIPS JA LJUNG RCR KOUMBARELIS E GIALERAKI A MANDALAKI T JENKINS PV COLLINS PW PASI KJ GOODEVE A PEAKE I PRESTON FE SCHWARTZ M SCHEIBEL E INGERSLEV J COOPER DN MILLAR DS KAKKAR VV GIANNELLI F NAYLOR JA TIZZANO EF BAIGET M DOMENECH M ALTISENT C TUSELL J BENEYTO M LORENZO JI GAUCHER C MAZURIER C PEERLINCK K MATTHIJS G CASSIMAN JJ VERMYLEN J MORI PG ACQUILA M CAPRINO D INABA H
Citation: Se. Antonarakis et al., FACTOR-VIII GENE INVERSIONS IN SEVERE HEMOPHILIA-A - RESULTS OF AN INTERNATIONAL CONSORTIUM STUDY, Blood, 86(6), 1995, pp. 2206-2212
GERMLINE ORIGINS IN THE HUMAN FACTOR-IX GENE - FREQUENT SOMATIC MOSAICISM WITH G-C-]A-T AND INCREASED MUTATIONS WITH ADVANCES MATERNAL AGE
Authors: SOMMER SS KETTERLING RP VIELHABER E SCHAID DJ KASPER CK PHILLIPS JA KOERPER MA KIM H SEXAUER C GRUPPO R AMBRIZ R PEREDES R
Citation: Ss. Sommer et al., GERMLINE ORIGINS IN THE HUMAN FACTOR-IX GENE - FREQUENT SOMATIC MOSAICISM WITH G-C-]A-T AND INCREASED MUTATIONS WITH ADVANCES MATERNAL AGE, Blood, 86(10), 1995, pp. 2433-2433
SEQUENCE VARIATION IN INTRONIC REGIONS OF PRIMATE FACTOR-IX GENES
Authors: GROUSE LH KETTERLING RP SOMMER SS
Citation: Lh. Grouse et al., SEQUENCE VARIATION IN INTRONIC REGIONS OF PRIMATE FACTOR-IX GENES, American journal of human genetics, 57(4), 1995, pp. 932-932
DO GERMLINE MUTATIONS TEND TO CLUSTER
Authors: KETTERLING RP VIELHABER E THORLAND E LIND T LI X SOMMER SS
Citation: Rp. Ketterling et al., DO GERMLINE MUTATIONS TEND TO CLUSTER, American journal of human genetics, 57(4), 1995, pp. 940-940
AMERINDIANS WITH HEMOPHILIA-B - THE PATTERN OF MUTATION AND CLINICAL IMPLICATIONS OF PROMOTER REGION MUTATION
Authors: HEIT JA DANIELS TM LIND TJ KETTERLING RP KASPER CK SOMMER SS
Citation: Ja. Heit et al., AMERINDIANS WITH HEMOPHILIA-B - THE PATTERN OF MUTATION AND CLINICAL IMPLICATIONS OF PROMOTER REGION MUTATION, American journal of human genetics, 57(4), 1995, pp. 1235-1235
THE PATTERN OF DELETIONS IN A TYPICAL GENE WITHOUT HIGHLY HOMOLOGOUS SEQUENCES - A DIVERSITY OF STRUCTURES EXIST AT DELETION JUNCTIONS IN THE FACTOR-IX GENE
Authors: LIND TJ KETTERLING RP SOMMER SS
Citation: Tj. Lind et al., THE PATTERN OF DELETIONS IN A TYPICAL GENE WITHOUT HIGHLY HOMOLOGOUS SEQUENCES - A DIVERSITY OF STRUCTURES EXIST AT DELETION JUNCTIONS IN THE FACTOR-IX GENE, American journal of human genetics, 57(4), 1995, pp. 1261-1261
ARE SOME APPARENTLY SIMPLE DELETIONS ACTUALLY 2 CONCERTED DELETIONS THAT RESULT FROM INTERACTING RY(I) HAIRPIN LOOPS
Authors: KETTERLING RP LIAO DZ SOMMER SS
Citation: Rp. Ketterling et al., ARE SOME APPARENTLY SIMPLE DELETIONS ACTUALLY 2 CONCERTED DELETIONS THAT RESULT FROM INTERACTING RY(I) HAIRPIN LOOPS, American journal of human genetics, 56(1), 1995, pp. 343-346
FACTOR-VIII GENE INVERSIONS CAUSING SEVERE HEMOPHILIA-A ORIGINATE ALMOST EXCLUSIVELY IN MALE GERM-CELLS
Authors: ROSSITER JP YOUNG M KIMBERLAND ML HUTTER P KETTERLING RP GITSCHIER J HORST J MORRIS MA SCHAID DJ DEMOERLOOSE P SOMMER SS KAZAZIAN HH ANTONARAKIS SE
Citation: Jp. Rossiter et al., FACTOR-VIII GENE INVERSIONS CAUSING SEVERE HEMOPHILIA-A ORIGINATE ALMOST EXCLUSIVELY IN MALE GERM-CELLS, Human molecular genetics, 3(7), 1994, pp. 1035-1039
MICRODELETIONS IN THE FACTOR-IX GENE - 3 RECURRENCES ASSOCIATED WITH A QUASI-PALINDROMIC SEQUENCE
Authors: KETTERLING RP SOMMER SS
Citation: Rp. Ketterling et Ss. Sommer, MICRODELETIONS IN THE FACTOR-IX GENE - 3 RECURRENCES ASSOCIATED WITH A QUASI-PALINDROMIC SEQUENCE, Human molecular genetics, 3(1), 1994, pp. 191-192
CRYPTIC DINUCLEOTIDE POLYMORPHISM IN THE 3' REGION OF THE FACTOR-IX GENE SHOWS SUBSTANTIAL VARIATION AMONG DIFFERENT POPULATIONS
Authors: SOMMER SS TILLOTSON VL VIELHABER EL KETTERLING RP DUTTON CM
Citation: Ss. Sommer et al., CRYPTIC DINUCLEOTIDE POLYMORPHISM IN THE 3' REGION OF THE FACTOR-IX GENE SHOWS SUBSTANTIAL VARIATION AMONG DIFFERENT POPULATIONS, Human genetics, 93(3), 1994, pp. 357-358
HOW PRECISELY CAN DATA FROM TRANSGENIC MOUSE MUTATION-DETECTION SYSTEMS BE EXTRAPOLATED TO HUMANS - LESSONS FROM THE HUMAN FACTOR-IX GENE
Authors: SOMMER SS KETTERLING RP
Citation: Ss. Sommer et Rp. Ketterling, HOW PRECISELY CAN DATA FROM TRANSGENIC MOUSE MUTATION-DETECTION SYSTEMS BE EXTRAPOLATED TO HUMANS - LESSONS FROM THE HUMAN FACTOR-IX GENE, MUTATION RESEARCH, 307(2), 1994, pp. 517-531
THE RATES OF C-C-]T-A AND G-C-]C-G TRANSVERSIONS AT CPG DINUCLEOTIDESIN THE HUMAN FACTOR-IX GENE
Authors: KETTERLING RP VIELHABER E SOMMER SS
Citation: Rp. Ketterling et al., THE RATES OF C-C-]T-A AND G-C-]C-G TRANSVERSIONS AT CPG DINUCLEOTIDESIN THE HUMAN FACTOR-IX GENE, American journal of human genetics, 54(5), 1994, pp. 831-835
THE RATES AND PATTERNS OF DELETIONS IN THE HUMAN FACTOR-IX GENE
Authors: KETTERLING RP VIELHABER EL LIND TJ THORLAND EC SOMMER SS
Citation: Rp. Ketterling et al., THE RATES AND PATTERNS OF DELETIONS IN THE HUMAN FACTOR-IX GENE, American journal of human genetics, 54(2), 1994, pp. 201-213
DELETIONS WITH INVERSIONS - REPORT OF A MUTATION AND REVIEW OF THE LITERATURE
Authors: KETTERLING RP RICKE DO WURSTER MW SOMMER SS
Citation: Rp. Ketterling et al., DELETIONS WITH INVERSIONS - REPORT OF A MUTATION AND REVIEW OF THE LITERATURE, Human mutation, 2(1), 1993, pp. 53-57
A MUTATION IN THE 3' UNTRANSLATED REGION OF THE FACTOR-IX GENE IN 4 FAMILIES WITH HEMOPHILIA-B
Authors: VIELHABER E JACOBSON DP KETTERLING RP LIU JZ SOMMER SS
Citation: E. Vielhaber et al., A MUTATION IN THE 3' UNTRANSLATED REGION OF THE FACTOR-IX GENE IN 4 FAMILIES WITH HEMOPHILIA-B, Human molecular genetics, 2(8), 1993, pp. 1309-1310
THE RATES AND PATTERNS OF DELETIONS IN THE FACTOR-IX GENE - A GENE INWHICH DELETIONS ARE UNCOMMON
Authors: KETTERLING RP VIELHABER EL LIND TJ THORLAND EC SOMMER SS
Citation: Rp. Ketterling et al., THE RATES AND PATTERNS OF DELETIONS IN THE FACTOR-IX GENE - A GENE INWHICH DELETIONS ARE UNCOMMON, American journal of human genetics, 53(3), 1993, pp. 1183-1183
Risultati: 1-25 | 26-26