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Results: 1-25 | 26-50 | 51-52
Results: 1-25/52
A NOVEL SPLICE-SITE MUTATION OF THE EXT2 GENE IN A FINNISH HEREDITARYMULTIPLE EXOSTOSES FAMILY
Authors: WOLF M HEMMINKI A KIVIOJA A SISTONEN P KAITILA I ERVASTI H KINNUNEN J KARAHARJU E KNUUTILA S
Citation: M. Wolf et al., A NOVEL SPLICE-SITE MUTATION OF THE EXT2 GENE IN A FINNISH HEREDITARYMULTIPLE EXOSTOSES FAMILY, European journal of human genetics, 6, 1998, pp. 4265-4265
MUTATIONS IN THE SMAD4 DPC4 GENE IN JUVENILE POLYPOSIS/
Authors: HOWE JR ROTH S RINGOLD JC SUMMERS RW JARVINEN HJ SISTONEN P TOMLINSON IPM HOULSTON RS BEVAN S MITROS FA STONE EM AALTONEN LA
Citation: Jr. Howe et al., MUTATIONS IN THE SMAD4 DPC4 GENE IN JUVENILE POLYPOSIS/, Science, 280(5366), 1998, pp. 1086-1088
LOCALIZATION OF A SUSCEPTIBILITY LOCUS FOR PEUTZ-JEGHERS SYNDROME TO 19P USING COMPARATIVE GENOMIC HYBRIDIZATION AND TARGETED LINKAGE ANALYSIS
Authors: HEMMINKI A TOMLINSON I MARKIE D JARVINEN H SISTONEN P BJORKQVIST AM KNUUTILA S SALOVAARA R BODMER W SHIBATA D DELACHAPELLE A AALTONEN LA
Citation: A. Hemminki et al., LOCALIZATION OF A SUSCEPTIBILITY LOCUS FOR PEUTZ-JEGHERS SYNDROME TO 19P USING COMPARATIVE GENOMIC HYBRIDIZATION AND TARGETED LINKAGE ANALYSIS, Nature genetics, 15(1), 1997, pp. 87-90
MTDNA HAPLOTYPE ANALYSIS IN FINNISH FAMILIES WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY
Authors: LAMMINEN T HUOPONEN K SISTONEN P JUVONEN V LAHERMO P AULA P NIKOSKELAINEN E SAVONTAUS ML
Citation: T. Lamminen et al., MTDNA HAPLOTYPE ANALYSIS IN FINNISH FAMILIES WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY, European journal of human genetics, 5(5), 1997, pp. 271-279
UNIPARENTAL DISOMY IN CARTILAGE-HAIR HYPOPLASIA
Authors: SULISALO T MAKITIE O SISTONEN P RIDANPAA M ELRIFAI W RUUSKANAEN O DELACHAPELLE A KAITILA I
Citation: T. Sulisalo et al., UNIPARENTAL DISOMY IN CARTILAGE-HAIR HYPOPLASIA, European journal of human genetics, 5(1), 1997, pp. 35-42
EXCLUSION OF PTEN AND 10Q22-24 AS THE SUSCEPTIBILITY LOCUS FOR JUVENILE POLYPOSIS SYNDROME
Authors: MARSH DJ ROTH S LUNETTA KL HEMMINKI A DAHIA PLM SISTONEN P ZHENG ZM CARON S VANORSOUW NJ BODMER WF COTTRELL SE DUNLOP MG ECCLES D HODGSON SV JARVINEN H KELLOKUMPU I MARKIE D NEALE K PHILLIPS R ROZEN P SYNGAL S VIJG J TOMLINSON IPM AALTONEN LA ENG C
Citation: Dj. Marsh et al., EXCLUSION OF PTEN AND 10Q22-24 AS THE SUSCEPTIBILITY LOCUS FOR JUVENILE POLYPOSIS SYNDROME, Cancer research, 57(22), 1997, pp. 5017-5021
LYSINURIC PROTEIN INTOLERANCE (LPI) GENE MAPS TO THE LONG ARM OF CHROMOSOME-14
Authors: LAUTEALA T SISTONEN P SAVONTAUS ML MYKKANEN J SIMELL J LUKKARINEN M SIMELL O AULA P
Citation: T. Lauteala et al., LYSINURIC PROTEIN INTOLERANCE (LPI) GENE MAPS TO THE LONG ARM OF CHROMOSOME-14, American journal of human genetics, 60(6), 1997, pp. 1479-1486
ASSIGNMENT OF THE MULIBREY NANISM GENE TO 17Q BY LINKAGE AND LINKAGE-DISEQUILIBRIUM ANALYSIS
Authors: AVELA K LIPSANENNYMAN M PERHEENTUPA J WALLGRENPETTERSSON C MARCHAND S FAURE S SISTONEN P DELACHAPELLE A LEHESJOKI AE
Citation: K. Avela et al., ASSIGNMENT OF THE MULIBREY NANISM GENE TO 17Q BY LINKAGE AND LINKAGE-DISEQUILIBRIUM ANALYSIS, American journal of human genetics, 60(4), 1997, pp. 896-902
REFINED MAPPING OF THE USHER-SYNDROME TYPE-III LOCUS ON CHROMOSOME-3,EXCLUSION OF CANDIDATE GENES, AND IDENTIFICATION OF THE PUTATIVE MOUSE HOMOLOGOUS REGION
Authors: JOENSUU T BLANCO G PAKARINEN L SISTONEN P KAARIAINEN H BROWN S DELACHAPELLE A SANKILA EM
Citation: T. Joensuu et al., REFINED MAPPING OF THE USHER-SYNDROME TYPE-III LOCUS ON CHROMOSOME-3,EXCLUSION OF CANDIDATE GENES, AND IDENTIFICATION OF THE PUTATIVE MOUSE HOMOLOGOUS REGION, Genomics, 38(3), 1996, pp. 255-263
TERMINOLOGY FOR RED-CELL SURFACE-ANTIGENS - MAKUHARI REPORT
Authors: DANIELS GL ANSTEE DJ CARTRON JP DAHR W HENRY S ISSITT PD JORGENSEN J JUDD WJ KORNSTAD L LEVENE C LOMASFRANCIS C LUBENKO A MALLORY D MOULDS JM MOULDS JJ OKUBO Y OVERBEEKE M REID ME ROUGER P SEIDL S SISTONEN P WENDEL S ZELINSKI T
Citation: Gl. Daniels et al., TERMINOLOGY FOR RED-CELL SURFACE-ANTIGENS - MAKUHARI REPORT, Vox sanguinis, 71(4), 1996, pp. 246-248
POINT MUTATIONS CHARACTERIZE KEL10, THE KEL3, KEL4, AND KEL21 ALLELES, AND THE KEL17 AND KEL11 ALLELES
Authors: LEE S WU X SON S NAIME D REID M OKUBO Y SISTONEN P REDMAN C
Citation: S. Lee et al., POINT MUTATIONS CHARACTERIZE KEL10, THE KEL3, KEL4, AND KEL21 ALLELES, AND THE KEL17 AND KEL11 ALLELES, Transfusion, 36(6), 1996, pp. 490-494
HAPLOTYPE ANALYSIS IN PRENATAL-DIAGNOSIS AND CARRIER IDENTIFICATION OF SALLA DISEASE
Authors: SCHLEUTKER J SISTONEN P AULA P
Citation: J. Schleutker et al., HAPLOTYPE ANALYSIS IN PRENATAL-DIAGNOSIS AND CARRIER IDENTIFICATION OF SALLA DISEASE, Journal of Medical Genetics, 33(1), 1996, pp. 36-41
AGE AND ORIGIN OF 2 COMMON MLH1 MUTATIONS PREDISPOSING TO HEREDITARY COLON-CANCER
Authors: MOISIO AL SISTONEN P WEISSENBACH J DELACHAPELLE A PELTOMAKI P
Citation: Al. Moisio et al., AGE AND ORIGIN OF 2 COMMON MLH1 MUTATIONS PREDISPOSING TO HEREDITARY COLON-CANCER, American journal of human genetics, 59(6), 1996, pp. 1243-1251
PROGRESSIVE MYOCLONUS EPILEPSY EPM1 LOCUS MAPS TO A 175-KB INTERVAL IN DISTAL 21Q
Authors: VIRTANEVA K MIAO JM TRASKELIN AL STONE N WARRINGTON JA WEISSENBACH J MYERS RM COX DR SISTONEN P DELACHAPELLE A LEHESJOKI AE
Citation: K. Virtaneva et al., PROGRESSIVE MYOCLONUS EPILEPSY EPM1 LOCUS MAPS TO A 175-KB INTERVAL IN DISTAL 21Q, American journal of human genetics, 58(6), 1996, pp. 1247-1253
THE GENETIC-RELATIONSHIP BETWEEN THE FINNS AND THE FINNISH SAAMI (LAPPS) - ANALYSIS OF NUCLEAR-DNA AND MTDNA
Authors: LAHERMO P SAJANTILA A SISTONEN P LUKKA M AULA P PELTONEN L SAVONTAUS ML
Citation: P. Lahermo et al., THE GENETIC-RELATIONSHIP BETWEEN THE FINNS AND THE FINNISH SAAMI (LAPPS) - ANALYSIS OF NUCLEAR-DNA AND MTDNA, American journal of human genetics, 58(6), 1996, pp. 1309-1322
GENES AND LANGUAGES IN EUROPE - AN ANALYSIS OF MITOCHONDRIAL LINEAGES
Authors: SAJANTILA A LAHERMO P ANTTINEN T LUKKA M SISTONEN P SAVONTAUS ML AULA P BECKMAN L TRANEBJAERG L GEDDEDAHL T ISSELTARVER L DIRIENZO A PAABO S
Citation: A. Sajantila et al., GENES AND LANGUAGES IN EUROPE - AN ANALYSIS OF MITOCHONDRIAL LINEAGES, PCR methods and applications, 5(1), 1995, pp. 42-52
ASSIGNMENT OF AN USHER SYNDROME TYPE-III (USH3) GENE TO CHROMOSOME 3Q
Authors: SANKILA EM PAKARINEN L KAARIAINEN H AITTOMAKI K KARJALAINEN S SISTONEN P DELACHAPELLE A
Citation: Em. Sankila et al., ASSIGNMENT OF AN USHER SYNDROME TYPE-III (USH3) GENE TO CHROMOSOME 3Q, Human molecular genetics, 4(1), 1995, pp. 93-98
LINKAGE DISEQUILIBRIUM MAPPING OF THE CORNEA PLANA CONGENITA GENE CNA2
Authors: TAHVANAINEN E FORSIUS H DAMSTEN M KARILA E KOLEHMAINEN J WEISSENBACH J SISTONEN P DELACHAPELLE A
Citation: E. Tahvanainen et al., LINKAGE DISEQUILIBRIUM MAPPING OF THE CORNEA PLANA CONGENITA GENE CNA2, Genomics, 30(3), 1995, pp. 409-414
CORNEA PLANA CONGENITA GENE ASSIGNED TO THE LONG ARM OF CHROMOSOME-12BY LINKAGE ANALYSIS
Authors: TAHVANAINEN E FORSIUS H KARILA E RANTA S EEROLA M WEISSENBACH J SISTONEN P DELACHAPELLE A
Citation: E. Tahvanainen et al., CORNEA PLANA CONGENITA GENE ASSIGNED TO THE LONG ARM OF CHROMOSOME-12BY LINKAGE ANALYSIS, Genomics, 26(2), 1995, pp. 290-293
GENETIC HOMOGENEITY OF CARTILAGE HAIR HYPOPLASIA
Authors: SULISALO T VANDERBURGT I RIMOIN DL BONAVENTURE J SILLENCE D CAMPBELL JB CHITAYAT D SCOTT CI DELACHAPELLE A SISTONEN P KAITILA I
Citation: T. Sulisalo et al., GENETIC HOMOGENEITY OF CARTILAGE HAIR HYPOPLASIA, Human genetics, 95(2), 1995, pp. 157-160
TOWARD THE POSITIONAL CLONING OF THE CONGENITAL CHLORIDE DIARRHEA GENE (CLD)
Authors: KERE J HOGLUND P DELACHAPELLE A SISTONEN P HAILA S GREEN ED HOLMBERG C
Citation: J. Kere et al., TOWARD THE POSITIONAL CLONING OF THE CONGENITAL CHLORIDE DIARRHEA GENE (CLD), Cytogenetics and cell genetics, 71(1), 1995, pp. 30-30
PROGRESSIVE EPILEPSY WITH MENTAL-RETARDATION MAPS TO THE TERMINAL REGION OF CHROMOSOME 8P
Authors: RANTA S TAHVANAINEN E HIRVASNIEMI A KARILA E SISTONEN P WEISSENBACH J LEISTI J LEHESJOKI AE DELACHAPELLE A
Citation: S. Ranta et al., PROGRESSIVE EPILEPSY WITH MENTAL-RETARDATION MAPS TO THE TERMINAL REGION OF CHROMOSOME 8P, Cytogenetics and cell genetics, 68(3-4), 1995, pp. 160-161
MUTATION IN THE FOLLICLE-STIMULATING-HORMONE RECEPTOR GENE CAUSES HEREDITARY HYPERGONADOTROPIC OVARIAN FAILURE
Authors: AITTOMAKI K LUCENA JLD PAKARINEN P SISTONEN P TAPANAINEN J GROMOLL J KASKIKARI R SANKILA EM LEHVASLAIHO H ENGEL AR NIESCHLAG E HUHTANIEMI I DELACHAPELLE A
Citation: K. Aittomaki et al., MUTATION IN THE FOLLICLE-STIMULATING-HORMONE RECEPTOR GENE CAUSES HEREDITARY HYPERGONADOTROPIC OVARIAN FAILURE, Cell, 82(6), 1995, pp. 959-968
BLOOD-GROUP TERMINOLOGY 1995 - ISBT WORKING PARTY ON TERMINOLOGY FOR RED-CELL SURFACE-ANTIGENS
Authors: DANIELS GL ANSTEE DJ CARTRON JP DAHR W ISSITT PD JORGENSEN J KORNSTAD L LEVENE C LOMASFRANCIS C LUBENKO A MALLORY D MOULDS JJ OKUBO Y OVERBEEKE M REID ME ROUGER P SEIDL S SISTONEN P WENDEL S WOODFIELD G ZELINSKI T
Citation: Gl. Daniels et al., BLOOD-GROUP TERMINOLOGY 1995 - ISBT WORKING PARTY ON TERMINOLOGY FOR RED-CELL SURFACE-ANTIGENS, Vox sanguinis, 69(3), 1995, pp. 265-279
SCREENING REDUCES COLORECTAL-CANCER RATE IN FAMILIES WITH HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER
Authors: JARVINEN HJ MECKLIN JP SISTONEN P
Citation: Hj. Jarvinen et al., SCREENING REDUCES COLORECTAL-CANCER RATE IN FAMILIES WITH HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER, Gastroenterology, 108(5), 1995, pp. 1405-1411
Risultati: 1-25 | 26-50 | 51-52