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Results: 1-25 | 26-50 | 51-53
Results: 26-50/53
PRADER-WILLI-SYNDROME IN A CHILD WITH MOSAIC TRISOMY-15 AND MOSAIC TRIPLO-X - A MOLECULAR ANALYSIS
Authors: DEVRIENDT K MATTHIJS G CLAES S LEGIUS E PROESMANS W CASSIMAN JJ FRYNS JP
Citation: K. Devriendt et al., PRADER-WILLI-SYNDROME IN A CHILD WITH MOSAIC TRISOMY-15 AND MOSAIC TRIPLO-X - A MOLECULAR ANALYSIS, Journal of Medical Genetics, 34(4), 1997, pp. 318-322
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME TYPE-I
Authors: JAEKEN J MATTHIJS G BARONE R CARCHON H
Citation: J. Jaeken et al., CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME TYPE-I, Journal of Medical Genetics, 34(1), 1997, pp. 73-76
COMPARISON OF PMM1 WITH THE PHOSPHOMANNOMUTASES EXPRESSED IN RAT-LIVER AND IN HUMAN-CELLS
Authors: PIRARD M COLLET JF MATTHIJS G VANSCHAFTINGEN E
Citation: M. Pirard et al., COMPARISON OF PMM1 WITH THE PHOSPHOMANNOMUTASES EXPRESSED IN RAT-LIVER AND IN HUMAN-CELLS, FEBS letters, 411(2-3), 1997, pp. 251-254
DEVELOPMENT OF REVERSE DOT-BLOT SYSTEM FOR SCREENING OF MITOCHONDRIAL-DNA MUTATIONS ASSOCIATED WITH LEBER HEREDITARY OPTIC ATROPHY
Authors: SCHOLLEN E VANDENBERK P CASSIMAN JJ MATTHIJS G
Citation: E. Schollen et al., DEVELOPMENT OF REVERSE DOT-BLOT SYSTEM FOR SCREENING OF MITOCHONDRIAL-DNA MUTATIONS ASSOCIATED WITH LEBER HEREDITARY OPTIC ATROPHY, Clinical chemistry, 43(1), 1997, pp. 18-23
FAMILIAL JUVENILE FOCAL AMYOTROPHY OF THE UPPER EXTREMITY (HIRAYAMA DISEASE) - SUPEROXIDE-DISMUTASE-1 GENOTYPE AND ACTIVITY
Authors: ROBBERECHT W AGUIRRE T VANDENBOSCH L THEYS P NEES H CASSIMAN JJ MATTHIJS G
Citation: W. Robberecht et al., FAMILIAL JUVENILE FOCAL AMYOTROPHY OF THE UPPER EXTREMITY (HIRAYAMA DISEASE) - SUPEROXIDE-DISMUTASE-1 GENOTYPE AND ACTIVITY, Archives of neurology, 54(1), 1997, pp. 46-50
AGENESIS OF CORPUS-CALLOSUM AND ANOPHTHALMIA IN THE ASPLENIA SYNDROME- A RECOGNIZABLE ASSOCIATION
Authors: DEVRIENDT K NAULAERS G MATTHIJS G VANHOUDT K DEVLIEGER H GEWILLIG M
Citation: K. Devriendt et al., AGENESIS OF CORPUS-CALLOSUM AND ANOPHTHALMIA IN THE ASPLENIA SYNDROME- A RECOGNIZABLE ASSOCIATION, Annales de genetique, 40(1), 1997, pp. 14-17
EXHAUSTIVE MUTATION ANALYSIS OF THE PMM2 GENE IN PATIENTS WITH THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1 OR JAEKEN-SYNDROME) AND CLONING OF THE MOUSE PMM1 AND PMM2 GENES
Authors: MATTHIJS G SCHOLLEN E JAEKEN J VANSCHAFTINGEN E CASSIMAN JJ
Citation: G. Matthijs et al., EXHAUSTIVE MUTATION ANALYSIS OF THE PMM2 GENE IN PATIENTS WITH THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1 OR JAEKEN-SYNDROME) AND CLONING OF THE MOUSE PMM1 AND PMM2 GENES, American journal of human genetics, 61(4), 1997, pp. 52-52
PRENATAL DIAGNOSTIC-TOOLS FOR ANALYSIS OF SCANDINAVIAN CDG TYPE-I PATIENTS
Authors: BJURSELL C WAHLSTROM J STIBLER H KRISTIANSSON B MATTHIJS G MARTINSSON T
Citation: C. Bjursell et al., PRENATAL DIAGNOSTIC-TOOLS FOR ANALYSIS OF SCANDINAVIAN CDG TYPE-I PATIENTS, American journal of human genetics, 61(4), 1997, pp. 839-839
SENSITIVITY TO OXIDATIVE STRESS OF FIBROBLASTS FROM PATIENTS FROM FAMILIAL AND SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS
Authors: AGUIRRE T VANDENBOSCH L MATTHIJS G CASSIMAN JJ ROBBERECHT W
Citation: T. Aguirre et al., SENSITIVITY TO OXIDATIVE STRESS OF FIBROBLASTS FROM PATIENTS FROM FAMILIAL AND SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS, American journal of human genetics, 61(4), 1997, pp. 2387-2387
SKEWED X-CHROMOSOME INACTIVATION IN FEMALE CARRIERS OF DYSKERATOSIS-CONGENITA
Authors: DEVRIENDT K MATTHIJS G LEGIUS E SCHOLLEN E BLOCKMANS D VANGEET C DEGREEF H CASSIMAN JJ FRYNS JP
Citation: K. Devriendt et al., SKEWED X-CHROMOSOME INACTIVATION IN FEMALE CARRIERS OF DYSKERATOSIS-CONGENITA, American journal of human genetics, 60(3), 1997, pp. 581-587
DEXTRAN-COATED SILICA AND ITS BEHAVIOR IN HIGH-PERFORMANCE SIZE-EXCLUSION CHROMATOGRAPHY
Authors: MATTHIJS G SCHACHT E
Citation: G. Matthijs et E. Schacht, DEXTRAN-COATED SILICA AND ITS BEHAVIOR IN HIGH-PERFORMANCE SIZE-EXCLUSION CHROMATOGRAPHY, Journal of chromatography, 755(1), 1996, pp. 1-10
NON-SYNDROMIC DEAFNESS ASSOCIATED WITH A MUTATION AND A POLYMORPHISM IN THE MITOCHONDRIAL 12S RIBOSOMAL-RNA GENE IN A LARGE ZAIREAN PEDIGREE
Authors: MATTHIJS G CLAES S LONGOMBENZA B CASSIMAN JJ
Citation: G. Matthijs et al., NON-SYNDROMIC DEAFNESS ASSOCIATED WITH A MUTATION AND A POLYMORPHISM IN THE MITOCHONDRIAL 12S RIBOSOMAL-RNA GENE IN A LARGE ZAIREAN PEDIGREE, European journal of human genetics, 4(1), 1996, pp. 46-51
EVIDENCE FOR GENETIC-HETEROGENEITY IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1)
Authors: MATTHIJS G LEGIUS E SCHOLLEN E VANDENBERK P JAEKEN J BARONE R FIUMARA A VISSER G LAMBERT M CASSIMAN JJ
Citation: G. Matthijs et al., EVIDENCE FOR GENETIC-HETEROGENEITY IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1), Genomics, 35(3), 1996, pp. 597-599
MOLECULAR RESOLUTION IMAGING OF DEXTRAN MONOLAYERS IMMOBILIZED ON SILICA BY ATOMIC-FORCE MICROSCOPY
Authors: TASKER S MATTHIJS G DAVIES MC ROBERTS CJ SCHACHT EH TENDLER SJB
Citation: S. Tasker et al., MOLECULAR RESOLUTION IMAGING OF DEXTRAN MONOLAYERS IMMOBILIZED ON SILICA BY ATOMIC-FORCE MICROSCOPY, Langmuir, 12(26), 1996, pp. 6436-6442
CLINICAL AND MOLECULAR-GENETIC FEATURES OF CONGENITAL SPINAL MUSCULAR-ATROPHY
Authors: DEVRIENDT K LAMMENS M SCHOLLEN E VANHOLE C DOM R DEVLIEGER H CASSIMAN JJ FRYNS JP MATTHIJS G
Citation: K. Devriendt et al., CLINICAL AND MOLECULAR-GENETIC FEATURES OF CONGENITAL SPINAL MUSCULAR-ATROPHY, Annals of neurology, 40(5), 1996, pp. 731-738
CONFIRMATION OF LINKAGE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 (CDG1) TO CHROMOSOME 16P13.13-P13.11 AND LINKAGE DISEQUILIBRIUM TO D16S414, D16S497 AND D16S519
Authors: MATTHIJS G VANDENBERK P LEGIUS E JAEKEN J CASSIMAN JJ
Citation: G. Matthijs et al., CONFIRMATION OF LINKAGE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 (CDG1) TO CHROMOSOME 16P13.13-P13.11 AND LINKAGE DISEQUILIBRIUM TO D16S414, D16S497 AND D16S519, Cytogenetics and cell genetics, 72(4), 1996, pp. 16-16
REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-16 MAPPING 1995 - HELD ON 12-14 NOVEMBER 1995 AT THE UNIVERSITY-OF-LEIDEN, THENETHERLANDS
Authors: ALTHERR MR AUERBACH AD BIGGS PO BURN TC BREUNING MH PETERS DJM TASCHNER P GILES R VANDERREIJDEN B CALLEN DF CLETONJANSEN AM DANIELS R DOGGETT NA DORIONBONNET F DRIOUCH K GIBSON R INGVARSSON S KASTNER DL KWITEKBLACK AE LANDEGENT JE LODER B MATTHIJS G MOLE SE OLSSON PG PORTER CJ PRONK JC RICKE DO SANDFORD R SAVOIA A SICILIANO MJ SOOD R
Citation: Mr. Altherr et al., REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-16 MAPPING 1995 - HELD ON 12-14 NOVEMBER 1995 AT THE UNIVERSITY-OF-LEIDEN, THENETHERLANDS, Cytogenetics and cell genetics, 72(4), 1996, pp. 271-285
COMPARATIVE-STUDY OF METHODOLOGIES FOR OBTAINING BETA-GLUCOSIDASE IMMOBILIZED ON DEXTRAN-MODIFIED SILICA
Authors: MATTHIJS G SCHACHT E
Citation: G. Matthijs et E. Schacht, COMPARATIVE-STUDY OF METHODOLOGIES FOR OBTAINING BETA-GLUCOSIDASE IMMOBILIZED ON DEXTRAN-MODIFIED SILICA, Enzyme and microbial technology, 19(8), 1996, pp. 601-605
D90A HETEROZYGOSITY IN THE SOD1 GENE IS ASSOCIATED WITH FAMILIAL AND APPARENTLY SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS
Authors: ROBBERECHT W AGUIRRE T VANDENBOSCH L TILKIN P CASSIMAN JJ MATTHIJS G
Citation: W. Robberecht et al., D90A HETEROZYGOSITY IN THE SOD1 GENE IS ASSOCIATED WITH FAMILIAL AND APPARENTLY SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS, Neurology, 47(5), 1996, pp. 1336-1339
HETEROZYGOSITY FOR THE D90A MUTATION IN THE SUPEROXIDE-DISMUTASE GENEIS ASSOCIATED WITH FAMILIAL AND APPARENTLY SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS
Authors: ROBBERECHT W AGUIRRE T VANDENBOSSCH L MATTHIJS G CASSIMAN JJ
Citation: W. Robberecht et al., HETEROZYGOSITY FOR THE D90A MUTATION IN THE SUPEROXIDE-DISMUTASE GENEIS ASSOCIATED WITH FAMILIAL AND APPARENTLY SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS, Neurology, 46(2), 1996, pp. 5020-5020
UNUSUAL MOLECULAR FINDINGS IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY
Authors: MATTHIJS G SCHOLLEN E LEGIUS E DEVRIENDT K GOEMANS N KAYSERILI H APAK MY CASSIMAN JJ
Citation: G. Matthijs et al., UNUSUAL MOLECULAR FINDINGS IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY, Journal of Medical Genetics, 33(6), 1996, pp. 469-474
INTRON 22 INVERSIONS OF THE FACTOR-VIII GENE IN BELGIAN PATIENTS WITHSEVERE HEMOPHILIA-A - PREVALENCE AND LACK OF RELATION WITH INHIBITOR STATUS
Authors: PEERLINCK K MATTHIJS G CASSIMAN JJ VERMYLEN J
Citation: K. Peerlinck et al., INTRON 22 INVERSIONS OF THE FACTOR-VIII GENE IN BELGIAN PATIENTS WITHSEVERE HEMOPHILIA-A - PREVALENCE AND LACK OF RELATION WITH INHIBITOR STATUS, Thrombosis and haemostasis, 73(6), 1995, pp. 1219-1219
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
A REGULATORY ELEMENT IN THE 5'UTR DIRECTS CELL-SPECIFIC EXPRESSION OFTHE MOUSE ALPHA(4) GENE
Authors: SCHOLLEN E DEMEIRSMAN C MATTHIJS G CASSIMAN JJ
Citation: E. Schollen et al., A REGULATORY ELEMENT IN THE 5'UTR DIRECTS CELL-SPECIFIC EXPRESSION OFTHE MOUSE ALPHA(4) GENE, Biochemical and biophysical research communications, 211(1), 1995, pp. 115-122
REFINEMENT OF THE CANDIDATE REGION FOR CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 (CDG1) ON CHROMOSOME 16P
Authors: MATTHIJS G LEGIUS E JAEKEN J CASSIMAN JJ
Citation: G. Matthijs et al., REFINEMENT OF THE CANDIDATE REGION FOR CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 (CDG1) ON CHROMOSOME 16P, American journal of human genetics, 57(4), 1995, pp. 1268-1268
Risultati: 1-25 | 26-50 | 51-53