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Results: 1-25/185
FLUORESCENT CHEMICAL CLEAVAGE OF MISMATCHES FOR EFFICIENT SCREENING OF THE FACTOR-VIII GENE
Authors: FRESON K PEERLINCK K AGUIRRE T ARNOUT J VERMYLEN J CASSIMAN JJ MATTHIJS G
Citation: K. Freson et al., FLUORESCENT CHEMICAL CLEAVAGE OF MISMATCHES FOR EFFICIENT SCREENING OF THE FACTOR-VIII GENE, Human mutation, 11(6), 1998, pp. 470-479
HYDROCEPHALUS AND SPASTIC PARAPLEGIA RESULT FROM A DONOR SPLICE-SITE MUTATION (2872+1G TO 2872+1A) IN THE L1CAM GENE IN A VENEZUELAN PEDIGREE
Authors: CLAES S AGUIRRE T SIMOSA V LANDER R PIRAS M LEGIUS E CASSIMAN JJ RAEYMAEKERS P
Citation: S. Claes et al., HYDROCEPHALUS AND SPASTIC PARAPLEGIA RESULT FROM A DONOR SPLICE-SITE MUTATION (2872+1G TO 2872+1A) IN THE L1CAM GENE IN A VENEZUELAN PEDIGREE, Human mutation, 1998, pp. 240-241
FISH IDENTIFIES INV(16)(P13Q22) MASKED BY TRANSLOCATIONS IN 3 CASES OF ACUTE MYELOID-LEUKEMIA
Authors: DIERLAMM J STUL M VRANCKX H MICHAUX L WEGHUIS DEMO SPELEMAN F SELLESLAG D KRAMER MHH NOENS LA CASSIMAN JJ VANDENBERGHE H HAGEMEIJER A
Citation: J. Dierlamm et al., FISH IDENTIFIES INV(16)(P13Q22) MASKED BY TRANSLOCATIONS IN 3 CASES OF ACUTE MYELOID-LEUKEMIA, Genes, chromosomes & cancer, 22(2), 1998, pp. 87-94
MITOCHONDRIAL-DNA ANALYSIS ON REMAINS OF A PUTATIVE SON OF LOUIS-XVI,KING OF FRANCE AND MARIE-ANTOINETTE
Authors: JEHAES E DECORTE R PENEAU A PETRIE JH BOIRY PA GILISSEN A MOISAN JP VANDENBERGHE H PASCAL O CASSIMAN JJ
Citation: E. Jehaes et al., MITOCHONDRIAL-DNA ANALYSIS ON REMAINS OF A PUTATIVE SON OF LOUIS-XVI,KING OF FRANCE AND MARIE-ANTOINETTE, European journal of human genetics, 6(4), 1998, pp. 383-395
PRENATAL-DIAGNOSIS IN CDG1 FAMILIES - BEWARE OF HETEROGENEITY
Authors: MATTHIJS G SCHOLLEN E CASSIMAN JJ CORMIERDAIRE V JAEKEN J VANSCHAFTINGEN E
Citation: G. Matthijs et al., PRENATAL-DIAGNOSIS IN CDG1 FAMILIES - BEWARE OF HETEROGENEITY, European journal of human genetics, 6(2), 1998, pp. 99-104
EVALUATION OF CFTR GENE MUTATION TESTING METHODS IN 136 DIAGNOSTIC LABORATORIES - REPORT OF A LARGE EUROPEAN EXTERNAL QUALITY ASSESSMENT
Authors: DEQUEKER E CASSIMAN JJ
Citation: E. Dequeker et Jj. Cassiman, EVALUATION OF CFTR GENE MUTATION TESTING METHODS IN 136 DIAGNOSTIC LABORATORIES - REPORT OF A LARGE EUROPEAN EXTERNAL QUALITY ASSESSMENT, European journal of human genetics, 6(2), 1998, pp. 165-175
DELIBERATE DECISION-MAKING VERSUS AVOIDANT BEHAVIOR IN THE FAMILY - ASTUDY IN NONPARTICIPANTS IN PREDICTIVE TESTING
Authors: DECRUYENAERE M EVERSKIEBOOMS G BOOGAERTS A CLOOSTERMANS T DEMYTTENAERE K FRYNS JP CASSIMAN JJ DOM R
Citation: M. Decruyenaere et al., DELIBERATE DECISION-MAKING VERSUS AVOIDANT BEHAVIOR IN THE FAMILY - ASTUDY IN NONPARTICIPANTS IN PREDICTIVE TESTING, European journal of human genetics, 6, 1998, pp. 14-14
HOMOZYGOSITY FOR THE F119L MUTATION IN THE PMM2 GENE IN AN ADULT WITHCDG SYNDROME TYPE IA
Authors: VANTINTELEN P MATTHIJS G BRAAM W CASSIMAN JJ DURAN M POLLTHE BT
Citation: P. Vantintelen et al., HOMOZYGOSITY FOR THE F119L MUTATION IN THE PMM2 GENE IN AN ADULT WITHCDG SYNDROME TYPE IA, European journal of human genetics, 6, 1998, pp. 1097-1097
IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER
Authors: MATTHIJS G SCHOLLEN E SAUDUBRAY JM DELONLAY P DIONISIVICI C BERTINI E HENRI H CASSIMAN JJ JAEKEN J VANSCHAFTINGEN E
Citation: G. Matthijs et al., IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER, European journal of human genetics, 6, 1998, pp. 5006-5006
COMPARATIVE-ANALYSIS OF THE PHOSPHOMANNOMUTASE GENES PMM1, PMM2 AND PMM2-PSI - THE SEQUENCE VARIATION IN THE PROCESSED PSEUDOGENE IS A REFLECTION OF THE MUTATIONS FOUND IN THE FUNCTIONAL GENE
Authors: SCHOLLEN E PARDON E HEYKANTS L RENARD J DOGGETT NA CALLEN DF CASSIMAN JJ MATTHIJS G
Citation: E. Schollen et al., COMPARATIVE-ANALYSIS OF THE PHOSPHOMANNOMUTASE GENES PMM1, PMM2 AND PMM2-PSI - THE SEQUENCE VARIATION IN THE PROCESSED PSEUDOGENE IS A REFLECTION OF THE MUTATIONS FOUND IN THE FUNCTIONAL GENE, Human molecular genetics, 7(2), 1998, pp. 157-164
CHARACTERIZATION OF 19 DISEASE-ASSOCIATED MISSENSE MUTATIONS IN THE REGULATORY DOMAIN OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR
Authors: VANKEERBERGHEN A WEI L JASPERS M CASSIMAN JJ NILIUS B CUPPENS H
Citation: A. Vankeerberghen et al., CHARACTERIZATION OF 19 DISEASE-ASSOCIATED MISSENSE MUTATIONS IN THE REGULATORY DOMAIN OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR, Human molecular genetics (Print), 7(11), 1998, pp. 1761-1769
GENETIC DATA OBTAINED FOR 2 CHINESE HAN POPULATIONS WITH A QUADRUPLEXFLUORESCENT STR TYPING SYSTEM (HUMVWA, HUMTH01, D21S11 AND HPRT)
Authors: XIAO FX GILISSEN A GU XX CASSIMAN JJ DECORTE R
Citation: Fx. Xiao et al., GENETIC DATA OBTAINED FOR 2 CHINESE HAN POPULATIONS WITH A QUADRUPLEXFLUORESCENT STR TYPING SYSTEM (HUMVWA, HUMTH01, D21S11 AND HPRT), International journal of legal medicine, 111(6), 1998, pp. 343-345
QUADRUPLEX FLUORESCENT STR TYPING SYSTEM (HUMVWA, HUMTHO1, D21S11 ANDHPRT) WITH SEQUENCE-DEFINED ALLELIC LADDERS - IDENTIFICATION OF A NEWALLELE AT D21S11
Authors: XIAO FX GILISSEN A CASSIMAN JJ DECORTE R
Citation: Fx. Xiao et al., QUADRUPLEX FLUORESCENT STR TYPING SYSTEM (HUMVWA, HUMTHO1, D21S11 ANDHPRT) WITH SEQUENCE-DEFINED ALLELIC LADDERS - IDENTIFICATION OF A NEWALLELE AT D21S11, Forensic science international, 94(1-2), 1998, pp. 39-46
EVALUATION OF A DECONTAMINATION PROTOCOL FOR HAIR SHAFTS BEFORE MTDNASEQUENCING
Authors: JEHAES E GILISSEN A CASSIMAN JJ DECORTE R
Citation: E. Jehaes et al., EVALUATION OF A DECONTAMINATION PROTOCOL FOR HAIR SHAFTS BEFORE MTDNASEQUENCING, Forensic science international, 94(1-2), 1998, pp. 65-71
INCREASED SENSITIVITY OF FIBROBLASTS FROM AMYOTROPHIC-LATERAL-SCLEROSIS PATIENTS TO OXIDATIVE STRESS
Authors: AGUIRRE T VANDENBOSCH L GOETSCHALCKX K TILKIN P MATHIJS G CASSIMAN JJ ROBBERECHT W
Citation: T. Aguirre et al., INCREASED SENSITIVITY OF FIBROBLASTS FROM AMYOTROPHIC-LATERAL-SCLEROSIS PATIENTS TO OXIDATIVE STRESS, Annals of neurology, 43(4), 1998, pp. 452-457
GENETIC-ANALYSIS OF THE 12Q CANDIDATE REGION FOR BIPOLAR DISORDER
Authors: VERHEYEN GR ORUC L SOUERY D CLAES S AALBREGTSE M CASSIMAN JJ MENDLEWICZ J IVEZIC S VANBROECKHOVEN C RAEYMAEKERS P
Citation: Gr. Verheyen et al., GENETIC-ANALYSIS OF THE 12Q CANDIDATE REGION FOR BIPOLAR DISORDER, American journal of medical genetics, 81(6), 1998, pp. 540-541
REEVALUATION OF THE IMPORTANCE OF POLYMORPHIC HLA CLASS-II ALLELES AND AMINO-ACIDS IN THE SUSCEPTIBILITY OF INDIVIDUALS OF DIFFERENT POPULATIONS TO TYPE-I DIABETES
Authors: ZAMANI M CASSIMAN JJ
Citation: M. Zamani et Jj. Cassiman, REEVALUATION OF THE IMPORTANCE OF POLYMORPHIC HLA CLASS-II ALLELES AND AMINO-ACIDS IN THE SUSCEPTIBILITY OF INDIVIDUALS OF DIFFERENT POPULATIONS TO TYPE-I DIABETES, American journal of medical genetics, 76(2), 1998, pp. 183-194
THE USE OF FLUORESCENCE MICROSCOPY AND CULTURE TECHNIQUES TO EXAMINE ADHESION OF PORPHYROMONAS-GINGIVALIS TO ORAL KERATINOCYTES
Authors: PAPAIOANNOU W VANSTEENBERGHE D CASSIMAN JJ VANELDERE J PAUWELS M QUIRYNEN M
Citation: W. Papaioannou et al., THE USE OF FLUORESCENCE MICROSCOPY AND CULTURE TECHNIQUES TO EXAMINE ADHESION OF PORPHYROMONAS-GINGIVALIS TO ORAL KERATINOCYTES, Journal of dental research, 77(5), 1998, pp. 1209-1209
ADHERENCE OF PORPHYROMONAS-GINGIVALIS TO MONO-LAYERS OF POCKET EPITHELIUM FROM DIFFERENT PERIODONTAL CONDITIONS
Authors: PAPAIOANNOU W VANSTEENBERGHE D CASSIMAN JJ VANELDERE J PAUWELS M QUIRYNEN M
Citation: W. Papaioannou et al., ADHERENCE OF PORPHYROMONAS-GINGIVALIS TO MONO-LAYERS OF POCKET EPITHELIUM FROM DIFFERENT PERIODONTAL CONDITIONS, Journal of dental research, 77, 1998, pp. 104-104
POLYVARIANT MUTANT CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENES - THE POLYMORPHIC (TG)M LOCUS EXPLAINS THE PARTIAL PENETRANCE OF THE T5 POLYMORPHISM AS A DISEASE MUTATION
Authors: CUPPENS H LIN W JASPERS M COSTES B TENG H VANKEERBERGHEN A JORISSEN M DROOGMANS G REYNAERT I GOOSSENS M NILIUS B CASSIMAN JJ
Citation: H. Cuppens et al., POLYVARIANT MUTANT CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENES - THE POLYMORPHIC (TG)M LOCUS EXPLAINS THE PARTIAL PENETRANCE OF THE T5 POLYMORPHISM AS A DISEASE MUTATION, The Journal of clinical investigation, 101(2), 1998, pp. 487-496
BILE-ACID COMPOSITION IN BILE FROM APC MUTANT MICE
Authors: TEJPAR S DEPAUW G CLAUS D GHOOS Y CASSIMAN JJ
Citation: S. Tejpar et al., BILE-ACID COMPOSITION IN BILE FROM APC MUTANT MICE, Gastroenterology, 114(4), 1998, pp. 2843-2843
PHOSPHORYLATION SITE INDEPENDENT SINGLE R-DOMAIN MUTATIONS AFFECT CFTR CHANNEL ACTIVITY
Authors: WEI L VANKEERBERGHEN A CUPPENS H DROOGMANS G CASSIMAN JJ NILIUS B
Citation: L. Wei et al., PHOSPHORYLATION SITE INDEPENDENT SINGLE R-DOMAIN MUTATIONS AFFECT CFTR CHANNEL ACTIVITY, FEBS letters, 439(1-2), 1998, pp. 121-126
CHARACTERIZATION OF MUTATIONS LOCATED IN EXON-18 OF THE CFTR GENE
Authors: VANKEERBERGHEN A WEI L TENG H JASPERS M CASSIMAN JJ NILIUS B CUPPENS H
Citation: A. Vankeerberghen et al., CHARACTERIZATION OF MUTATIONS LOCATED IN EXON-18 OF THE CFTR GENE, FEBS letters, 437(1-2), 1998, pp. 1-4
LINKAGE AND ASSOCIATION BETWEEN A CD4 GENE POLYMORPHISM AND IDDM IN DANISH IDDM PATIENTS
Authors: KRISTIANSEN OP ZAMANI M JOHANNESEN J MANDRUPPOULSEN T CASSIMAN JJ NERUP J POCIOT F
Citation: Op. Kristiansen et al., LINKAGE AND ASSOCIATION BETWEEN A CD4 GENE POLYMORPHISM AND IDDM IN DANISH IDDM PATIENTS, Diabetes, 47(2), 1998, pp. 281-283
BURKITTS LYMPHOMA-ASSOCIATED TRANSLOCATIONS IN MULTIPLE-MYELOMA AND PLASMA-CELL LEUKEMIA
Authors: DIERLAMM J MICHAUX L WEH HJ WLODARSKA I STEFANOVA M STUL M FERRANT A CASSIMAN JJ HAGEMEIJER A VANDENBERGHE H HOSSFELD DK
Citation: J. Dierlamm et al., BURKITTS LYMPHOMA-ASSOCIATED TRANSLOCATIONS IN MULTIPLE-MYELOMA AND PLASMA-CELL LEUKEMIA, British Journal of Haematology, 102(1), 1998, pp. 349-349
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