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Results: 1-24 |
Results: 24
GENOTYPE AND PHENOTYPE RELATIONSHIP IN PATIENTS WITH FRIEDREICHS-ATAXIA
Authors: IPPEL E PHILIPPENS RMH SINKE RJ DIEPSTRATEN CM HALLEY DJJ TIJMENSEN ASLN BEEMER FA VANNIEUWENHUIZEN O
Citation: E. Ippel et al., GENOTYPE AND PHENOTYPE RELATIONSHIP IN PATIENTS WITH FRIEDREICHS-ATAXIA, European journal of human genetics, 6, 1998, pp. 1110-1110
TOWARDS THE ISOLATION OF A HUMAN-MALIGNANT EXTRAGONADAL GERM-CELL TUMOR-ASSOCIATED BREAKPOINT IN CHROMOSOME 11Q13
Authors: SINKE RJ VANASSELDONK M DEBRUIJN D STRIJK JA MERKX G WEGHUIS DO DEJONG B OOSTERHUIS JW VANKESSEL A
Citation: Rj. Sinke et al., TOWARDS THE ISOLATION OF A HUMAN-MALIGNANT EXTRAGONADAL GERM-CELL TUMOR-ASSOCIATED BREAKPOINT IN CHROMOSOME 11Q13, APMIS. Acta pathologica, microbiologica et immunologica Scandinavica, 106(1), 1998, pp. 73-78
GENOTYPE OF ADULT-ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II IN ASYMPTOMATIC PATIENTS
Authors: AUSEMS MGEM VANDIGGELEN OP SINKE RJ REUSER AJJ WOKKE JHJ
Citation: Mgem. Ausems et al., GENOTYPE OF ADULT-ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II IN ASYMPTOMATIC PATIENTS, Neurology, 50(4), 1998, pp. 2099-2099
CLINICAL HETEROGENEITY AND NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE IN 3 FAMILIES WITH ISOLATED GLYCEROL KINASE-DEFICIENCY
Authors: SJARIF DR SINKE RJ DURAN M BEEMER FA KLEIJER WJ VANAMSTEL JKP POLLTHE BT
Citation: Dr. Sjarif et al., CLINICAL HETEROGENEITY AND NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE IN 3 FAMILIES WITH ISOLATED GLYCEROL KINASE-DEFICIENCY, Journal of Medical Genetics, 35(8), 1998, pp. 650-656
EXCLUSION OF THE NUCLEAR-FACTOR-KAPPA-B3 (REL-A) GENE AS CANDIDATE FOR THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (MEN-1) GENE
Authors: LANDSVATER RM DEWIT MJ PETERSON LF SINKE RJ VANKESSEL AG LIPS CJM HOPPENER JWM
Citation: Rm. Landsvater et al., EXCLUSION OF THE NUCLEAR-FACTOR-KAPPA-B3 (REL-A) GENE AS CANDIDATE FOR THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (MEN-1) GENE, Biochemical and molecular medicine, 60(1), 1997, pp. 76-79
EXCLUSION OF THE PHOSPHATIDYLINOSITOL-SPECIFIC PHOSPHOLIPASE-C BETA-3(PLC BETA-3) GENE AS CANDIDATE FOR THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (MEN-1) GENE
Authors: DEWIT MJ LANDSVATER RM SINKE RJ VANKESSEL AG LIPS CJM HOPPENER JWM
Citation: Mj. Dewit et al., EXCLUSION OF THE PHOSPHATIDYLINOSITOL-SPECIFIC PHOSPHOLIPASE-C BETA-3(PLC BETA-3) GENE AS CANDIDATE FOR THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (MEN-1) GENE, Human genetics, 99(1), 1997, pp. 133-137
BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS (BRIC) - EVIDENCE OF GENETIC-HETEROGENEITY AND DELIMITATION OF THE BRIC LOCUS TO A 7-CM INTERVAL BETWEEN D18S69 AND D18S64
Authors: SINKE RJ CARLTON VEH JUIJN JA DELHAAS T BULL L HENEGOUWEN GPV VANHATTUM J KELLER KM SINAASAPPEL M BIJLEVELD CMA KNOL IE VANAMSTEL HKP PEARSON PL BERGER R FREIMER NB HOUWEN RHJ
Citation: Rj. Sinke et al., BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS (BRIC) - EVIDENCE OF GENETIC-HETEROGENEITY AND DELIMITATION OF THE BRIC LOCUS TO A 7-CM INTERVAL BETWEEN D18S69 AND D18S64, Human genetics, 100(3-4), 1997, pp. 382-387
FINE MAPPING OF THE HUMAN RENAL ONCOCYTOMA-ASSOCIATED TRANSLOCATION (5-11)(Q35-Q13) BREAKPOINT
Authors: SINKE RJ DIJKHUIZEN T JANSSEN B WEGHUIS DO MERKX G VANDENBERG E SCHUURING E MELONI AM DEJONG B VANKESSEL AG
Citation: Rj. Sinke et al., FINE MAPPING OF THE HUMAN RENAL ONCOCYTOMA-ASSOCIATED TRANSLOCATION (5-11)(Q35-Q13) BREAKPOINT, Cancer genetics and cytogenetics, 96(2), 1997, pp. 95-101
NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE - MOLECULAR AND CLINICAL HETEROGENEITY IN ISOLATED GLYCEROL KINASE-DEFICIENCY
Authors: VANAMSTEL JKP SJARIF DR DURAN M KLEIJER WJ BEEMER FA SINKE RJ POLL BT
Citation: Jkp. Vanamstel et al., NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE - MOLECULAR AND CLINICAL HETEROGENEITY IN ISOLATED GLYCEROL KINASE-DEFICIENCY, American journal of human genetics, 61(4), 1997, pp. 2013-2013
DEFINITION OF A NEW ENTITY OF MALIGNANT EXTRAGONADAL GERM-CELL TUMORS
Authors: VANECHTEN J DEJONG B SINKE RJ WEGHUIS DO SLEIJFER DT OOSTERHUIS JW
Citation: J. Vanechten et al., DEFINITION OF A NEW ENTITY OF MALIGNANT EXTRAGONADAL GERM-CELL TUMORS, Genes, chromosomes & cancer, 12(1), 1995, pp. 8-15
IDENTIFICATION OF THE HUMAN BETA-A2 CRYSTALLIN GENE (CRYBA2) - LOCALIZATION OF THE GENE ON HUMAN-CHROMOSOME-2 AND OF THE HOMOLOGOUS GENE ONMOUSE CHROMOSOME-1
Authors: HULSEBOS TJM CEROSALETTI KM FOURNIER REK SINKE RJ ROCCHI M MARZELLA R JENKINS NA GILBERT DJ COPELAND NG
Citation: Tjm. Hulsebos et al., IDENTIFICATION OF THE HUMAN BETA-A2 CRYSTALLIN GENE (CRYBA2) - LOCALIZATION OF THE GENE ON HUMAN-CHROMOSOME-2 AND OF THE HOMOLOGOUS GENE ONMOUSE CHROMOSOME-1, Genomics, 28(3), 1995, pp. 543-548
LOCALIZATION OF THE HUMAN PHOSPHATIDYLINOSITOL-SPECIFIC PHOSPHOLIPASEC-BETA(3), GENE (PLCB3) WITHIN CHROMOSOME BAND 11Q13
Authors: SINKE RJ VANKESSEL AG
Citation: Rj. Sinke et Ag. Vankessel, LOCALIZATION OF THE HUMAN PHOSPHATIDYLINOSITOL-SPECIFIC PHOSPHOLIPASEC-BETA(3), GENE (PLCB3) WITHIN CHROMOSOME BAND 11Q13, Genomics, 25(2), 1995, pp. 568-569
CONFINING THE BREAKPOINT REGION FOR THE PAPILLARY RENAL-CELL CARCINOMA-ASSOCIATED TRANSLOCATION T(X-1)(P11-Q21)
Authors: WETERMAN MAJ WILBRINK M SINKE RJ DEJONG B VANKESSEL AG
Citation: Maj. Weterman et al., CONFINING THE BREAKPOINT REGION FOR THE PAPILLARY RENAL-CELL CARCINOMA-ASSOCIATED TRANSLOCATION T(X-1)(P11-Q21), Journal of cellular biochemistry, 1995, pp. 83-83
THE HUMAN E48 ANTIGEN, HIGHLY HOMOLOGOUS TO THE MURINE LY-6 ANTIGEN THB, IS A GPI-ANCHORED MOLECULE APPARENTLY INVOLVED IN KERATINOCYTE CELL-CELL ADHESION
Authors: BRAKENHOFF RH GERRETSEN M KNIPPELS EMC VANDIJK M VANESSEN H WEGHUIS DO SINKE RJ SNOW GB VANDONGEN GAMS
Citation: Rh. Brakenhoff et al., THE HUMAN E48 ANTIGEN, HIGHLY HOMOLOGOUS TO THE MURINE LY-6 ANTIGEN THB, IS A GPI-ANCHORED MOLECULE APPARENTLY INVOLVED IN KERATINOCYTE CELL-CELL ADHESION, The Journal of cell biology, 129(6), 1995, pp. 1677-1689
ASSIGNMENT OF THE HUMAN GENE FOR THE WATER CHANNEL OF RENAL COLLECTING DUCT AQUAPORIN-2 (AQP2) TO CHROMOSOME-12 REGION Q12-]Q13
Authors: DEEN PMT WEGHUIS DO SINKE RJ VANKESSEL AG WIERINGA B VANOS CH
Citation: Pmt. Deen et al., ASSIGNMENT OF THE HUMAN GENE FOR THE WATER CHANNEL OF RENAL COLLECTING DUCT AQUAPORIN-2 (AQP2) TO CHROMOSOME-12 REGION Q12-]Q13, Cytogenetics and cell genetics, 66(4), 1994, pp. 260-262
2 DISTINCT TRANSLOCATION BREAKPOINTS IN T(X-18)-POSITIVE SYNOVIAL SARCOMAS AND THEIR SUB-LOCALIZATION
Authors: DELEEUW B SUIJKERBUIJK RF WEGHUIS DO SINKE RJ VANKESSEL AG
Citation: B. Deleeuw et al., 2 DISTINCT TRANSLOCATION BREAKPOINTS IN T(X-18)-POSITIVE SYNOVIAL SARCOMAS AND THEIR SUB-LOCALIZATION, Cytogenetics and cell genetics, 65(3), 1994, pp. 164-164
AMPLIFICATION OF CHROMOSOME SUBREGION 12P11.2-P12.1 IN A METASTASIS OF AN I(12P)-NEGATIVE SEMINOMA - RELATIONSHIP TO TUMOR PROGRESSION
Authors: SUIJKERBUIJK RF SINKE RJ WEGHUIS DEMO ROQUE L FORUS A STELLINK F SIEPMAN A VANDEKAA C SOARES J VANKESSEL AG
Citation: Rf. Suijkerbuijk et al., AMPLIFICATION OF CHROMOSOME SUBREGION 12P11.2-P12.1 IN A METASTASIS OF AN I(12P)-NEGATIVE SEMINOMA - RELATIONSHIP TO TUMOR PROGRESSION, Cancer genetics and cytogenetics, 78(2), 1994, pp. 145-152
MOLECULAR CHARACTERIZATION OF A RECURRING COMPLEX CHROMOSOMAL TRANSLOCATION IN 2 HUMAN EXTRAGONADAL GERM-CELL TUMORS
Authors: SINKE RJ WEGHUIS DO SUIJKERBUIJK RF TANIGAMI A NAKAMURA Y LARSSON C WEBER G DEJONG B OOSTERHUIS JW MOLENAAR WM VANKESSEL AG
Citation: Rj. Sinke et al., MOLECULAR CHARACTERIZATION OF A RECURRING COMPLEX CHROMOSOMAL TRANSLOCATION IN 2 HUMAN EXTRAGONADAL GERM-CELL TUMORS, Cancer genetics and cytogenetics, 73(1), 1994, pp. 11-16
SUBLOCALIZATION OF THE SYNOVIAL SARCOMA-ASSOCIATED T(X-18) CHROMOSOMAL BREAKPOINT IN XP11.2 USING COSMID CLONING AND FLUORESCENCE INSITU HYBRIDIZATION
Authors: DELEEUW B SUIJKERBUIJK RF BALEMANS M SINKE RJ DEJONG B MOLENAAR WM MELONI AM SANDBERG AA GERAGHTY M HOFKER M ROPERS HH VANKESSEL AG
Citation: B. Deleeuw et al., SUBLOCALIZATION OF THE SYNOVIAL SARCOMA-ASSOCIATED T(X-18) CHROMOSOMAL BREAKPOINT IN XP11.2 USING COSMID CLONING AND FLUORESCENCE INSITU HYBRIDIZATION, Oncogene, 8(6), 1993, pp. 1457-1463
REVERSE MAPPING OF THE GENE ENCODING THE HUMAN FOS-RELATED ANTIGEN-1 (FRA-1) WITHIN CHROMOSOME BAND-11Q13
Authors: SINKE RJ TANIGAMI A NAKAMURA Y VANKESSEL AG
Citation: Rj. Sinke et al., REVERSE MAPPING OF THE GENE ENCODING THE HUMAN FOS-RELATED ANTIGEN-1 (FRA-1) WITHIN CHROMOSOME BAND-11Q13, Genomics, 18(1), 1993, pp. 165-165
LOCALIZATION OF X-CHROMOSOME SHORT ARM MARKERS RELATIVE TO SYNOVIAL SARCOMA-ASSOCIATED AND RENAL ADENOCARCINOMA-ASSOCIATED TRANSLOCATION BREAKPOINTS
Authors: SINKE RJ DELEEUW B JANSSEN HAP WEGHUIS DO SUIJKERBUIJK RF MELONI AM GILGENKRANTZ S BERGER W ROPERS HH SANDBERG AA VANKESSEL AG
Citation: Rj. Sinke et al., LOCALIZATION OF X-CHROMOSOME SHORT ARM MARKERS RELATIVE TO SYNOVIAL SARCOMA-ASSOCIATED AND RENAL ADENOCARCINOMA-ASSOCIATED TRANSLOCATION BREAKPOINTS, Human genetics, 92(3), 1993, pp. 305-308
IDENTIFICATION OF A YEAST ARTIFICIAL CHROMOSOME THAT SPANS THE HUMAN PAPILLARY RENAL-CELL CARCINOMA-ASSOCIATED T(X1) BREAKPOINT IN XP11.2
Authors: SUIJKERBUIJK RF MELONI AM SINKE RJ DELEEUW B WILBRINK M JANSSEN HAP GERAGHTY MT MONACO AP SANDBERG AA VANKESSEL AG
Citation: Rf. Suijkerbuijk et al., IDENTIFICATION OF A YEAST ARTIFICIAL CHROMOSOME THAT SPANS THE HUMAN PAPILLARY RENAL-CELL CARCINOMA-ASSOCIATED T(X1) BREAKPOINT IN XP11.2, Cancer genetics and cytogenetics, 71(2), 1993, pp. 164-169
OVERREPRESENTATION OF CHROMOSOME 12P SEQUENCES AND KARYOTYPIC EVOLUTION IN I(12P)-NEGATIVE TESTICULAR GERM-CELL TUMORS REVEALED BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: SUIJKERBUIJK RF SINKE RJ MELONI AM PARRINGTON JM VANECHTEN J DEJONG B OOSTERHUIS JW SANDBERG AA VANKESSEL AG
Citation: Rf. Suijkerbuijk et al., OVERREPRESENTATION OF CHROMOSOME 12P SEQUENCES AND KARYOTYPIC EVOLUTION IN I(12P)-NEGATIVE TESTICULAR GERM-CELL TUMORS REVEALED BY FLUORESCENCE IN-SITU HYBRIDIZATION, Cancer genetics and cytogenetics, 70(2), 1993, pp. 85-93
CLONING, CHROMOSOMAL LOCALIZATION, AND FUNCTIONAL EXPRESSION OF THE ALPHA-1-SUBUNIT OF THE L-TYPE VOLTAGE-DEPENDENT CALCIUM-CHANNEL FROM NORMAL HUMAN HEART
Authors: SCHULTZ D MIKALA G YATANI A ENGLE DB ILES DE SEGERS B SINKE RJ WEGHUIS DO KLOCKNER U WAKAMORI M WANG JJ MELVIN D VARADI G SCHWARTZ A
Citation: D. Schultz et al., CLONING, CHROMOSOMAL LOCALIZATION, AND FUNCTIONAL EXPRESSION OF THE ALPHA-1-SUBUNIT OF THE L-TYPE VOLTAGE-DEPENDENT CALCIUM-CHANNEL FROM NORMAL HUMAN HEART, Proceedings of the National Academy of Sciences of the United Statesof America, 90(13), 1993, pp. 6228-6232
Risultati: 1-24 |