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Results: 1-25 | 26-50 | 51-53
Results: 1-25/53
STABILITY STUDIES OF A RECOMBINANT CUTINASE IMMOBILIZED TO DEXTRAN AND DERIVATIZED SILICA SUPPORTS
Authors: GONCALVES AM SCHACHT E MATTHIJS G BARROS MRA CABRAL JMS GIL MH
Citation: Am. Goncalves et al., STABILITY STUDIES OF A RECOMBINANT CUTINASE IMMOBILIZED TO DEXTRAN AND DERIVATIZED SILICA SUPPORTS, Enzyme and microbial technology, 24(1-2), 1999, pp. 60-66
SOX10 MUTATIONS IN PATIENTS WITH WAARDENBURG-HIRSCHSPRUNG-DISEASE
Authors: PINGAULT V BONDURAND N KUHLBRODT K GOERICH DE PREHU MO PULITI A HERBARTH B HERMANSBORGMEYER I LEGIUS E MATTHIJS G AMIEL J LYONNET S CECCHERINI I ROMEO G SMITH JC READ AP WEGNER M GOOSSENS M
Citation: V. Pingault et al., SOX10 MUTATIONS IN PATIENTS WITH WAARDENBURG-HIRSCHSPRUNG-DISEASE, Nature genetics, 18(2), 1998, pp. 171-173
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
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
FINE MAPPING OF NOONAN CARDIO-FACIO-CUTANEOUS-SYNDROME IN A LARGE FAMILY/
Authors: LEGIUS E SCHOLLEN E MATTHIJS G FRYNS JP
Citation: E. Legius et al., FINE MAPPING OF NOONAN CARDIO-FACIO-CUTANEOUS-SYNDROME IN A LARGE FAMILY/, European journal of human genetics, 6(1), 1998, pp. 32-37
MUTATIONS OF THE SOX10 GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE
Authors: PINGAULT V BONDURAND N KUHLBRODT K GOERICH DE PREHU MO PULITI A LEMORT N LEGIUS E MATTHIJS G AMIEL J LYONNET S CECCHERINI I ROMEO G CLAYTONSMITH J READ AP WEGNER M GOOSSENS M
Citation: V. Pingault et al., MUTATIONS OF THE SOX10 GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE, European journal of human genetics, 6, 1998, pp. 402-402
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
THE PHOSPHOMANNOMUTASES IN HUMAN AND MOUSE - GENE STRUCTURE, EXPRESSION PATTERN AND ROLE IN DISEASE
Authors: MATTHIJS G GRUENEWALD S SCHOLLEN E HEYKANTS L PIRARD M VANSCHAFTINGEN E
Citation: G. Matthijs et al., THE PHOSPHOMANNOMUTASES IN HUMAN AND MOUSE - GENE STRUCTURE, EXPRESSION PATTERN AND ROLE IN DISEASE, Glycobiology, 8(11), 1998, pp. 46-46
MISSENSE MUTATION AND HEXANUCLEOTIDE DUPLICATION IN THE PAX2 GENE IN 2 UNRELATED FAMILIES WITH RENAL-COLOBOMA SYNDROME (MIM-120330)
Authors: DEVRIENDT K MATTHIJS G VANDAMME B VANCAESBROECK D ECCLES M VANRENTERGHEM Y FRYNS JP LEYS A
Citation: K. Devriendt et al., MISSENSE MUTATION AND HEXANUCLEOTIDE DUPLICATION IN THE PAX2 GENE IN 2 UNRELATED FAMILIES WITH RENAL-COLOBOMA SYNDROME (MIM-120330), Human genetics, 103(2), 1998, pp. 149-153
THE PRENATAL-DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY
Authors: MATTHIJS G DEVRIENDT K FRYNS JP
Citation: G. Matthijs et al., THE PRENATAL-DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY, Prenatal diagnosis, 18(6), 1998, pp. 607-610
DELETION OF THYROID TRANSCRIPTION FACTOR-I GENE IN AN INFANT WITH NEONATAL THYROID-DYSFUNCTION AND RESPIRATORY-FAILURE
Authors: DEVRIENDT K VANHOLE C MATTHIJS G DEZEGHER F
Citation: K. Devriendt et al., DELETION OF THYROID TRANSCRIPTION FACTOR-I GENE IN AN INFANT WITH NEONATAL THYROID-DYSFUNCTION AND RESPIRATORY-FAILURE, The New England journal of medicine, 338(18), 1998, pp. 1317-1318
1.4 MB CANDIDATE GENE REGION FOR X-LINKED DYSKERATOSIS-CONGENITA DEFINED BY COMBINED HAPLOTYPE AND X-CHROMOSOME INACTIVATION ANALYSIS
Authors: KNIGHT SW VULLIAMY TJ HEISS NS MATTHIJS G DEVRIENDT K CONNOR JM DURSO M POUSTKA A MASON PJ DOKAL I
Citation: Sw. Knight et al., 1.4 MB CANDIDATE GENE REGION FOR X-LINKED DYSKERATOSIS-CONGENITA DEFINED BY COMBINED HAPLOTYPE AND X-CHROMOSOME INACTIVATION ANALYSIS, Journal of Medical Genetics, 35(12), 1998, pp. 993-996
SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS
Authors: BUITING K DITTRICH B GROSS S LICH C FARBER C BUCHHOLZ T SMITH E REIS A BURGER J NOTHEN MM BARTHWITTE U JANSSEN B ABELIOVICH D LERER I VANDENOUWELAND AMW HALLEY DJJ SCHRANDERSTUMPEL C SMEETS H MEINECKE P MALCOLM S GARDNER A LALANDE M NICHOLLS RD FRIEND K SCHULZE A MATTHIJS G KOKKONEN H HILBERT P VANMALDERGEM L GLOVER G CARBONELL P WILLEMS P GILLESSENKAESBACH G HORSTHEMKE B
Citation: K. Buiting et al., SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS, American journal of human genetics, 63(1), 1998, pp. 170-180
PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION
Authors: JAEKEN J MATTHIJS G SAUDUBRAY JM DIONISIVICI C BERTINI E DELONLAY P HENRI H CARCHON H SCHOLLEN E VANSCHAFTINGEN E
Citation: J. Jaeken et al., PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION, American journal of human genetics, 62(6), 1998, pp. 1535-1539
LACK OF HOMOZYGOTES FOR THE MOST FREQUENT DISEASE ALLELE IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A
Authors: MATTHIJS G SCHOLLEN E VANSCHAFTINGEN E CASSIMAN JJ JAEKEN J
Citation: G. Matthijs et al., LACK OF HOMOZYGOTES FOR THE MOST FREQUENT DISEASE ALLELE IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A, American journal of human genetics, 62(3), 1998, pp. 542-550
MUTATIONS IN PMM2, A PHOSPHOMANNOMUTASE GENE ON CHROMOSOME 16P13, IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN TYPE-I SYNDROME (JAEKEN-SYNDROME) (VOL 16, PG 88, 1997)
Authors: MATTHIJS G
Citation: G. Matthijs, MUTATIONS IN PMM2, A PHOSPHOMANNOMUTASE GENE ON CHROMOSOME 16P13, IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN TYPE-I SYNDROME (JAEKEN-SYNDROME) (VOL 16, PG 88, 1997), Nature genetics, 16(3), 1997, pp. 316-316
MUTATIONS IN PMM2, A PHOSPHOMANNOMUTASE GENE ON CHROMOSOME 16P13, IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN TYPE-I SYNDROME (JAEKEN-SYNDROME)
Authors: MATTHIJS G SCHOLLEN E PARDON E VEIGADACUNHA M JAEKEN J CASSIMAN JJ VANSCHAFTINGEN E
Citation: G. Matthijs et al., MUTATIONS IN PMM2, A PHOSPHOMANNOMUTASE GENE ON CHROMOSOME 16P13, IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN TYPE-I SYNDROME (JAEKEN-SYNDROME), Nature genetics, 16(1), 1997, pp. 88-92
QUALITY GUIDELINES AND STANDARDS FOR GENETIC LABORATORIES CLINICS IN PRENATAL-DIAGNOSIS ON FETAL SAMPLES OBTAINED BY INVASIVE PROCEDURES - AN ATTEMPT TO ESTABLISH A COMMON EUROPEAN FRAMEWORK FOR QUALITY ASSESSMENT/
Authors: KROISEL PM FRYNS JP MATTHIJS G BRONDUMNIELSEN K VEJERSLEV L VONKOSKULL H GIRAUDON E SAURA R HELD K MULLERREIBLE CR METAXOTOU C GENUARDI M PIOMBO G SCHNEIDER F SMEETS D VANDENOUWELAND A PACHECO P CORREIA H BINKERT F GABARRON J GALLANO P KRISTOFFERSSON U ANVRET M HOWELL R STENHOUSE S
Citation: Pm. Kroisel et al., QUALITY GUIDELINES AND STANDARDS FOR GENETIC LABORATORIES CLINICS IN PRENATAL-DIAGNOSIS ON FETAL SAMPLES OBTAINED BY INVASIVE PROCEDURES - AN ATTEMPT TO ESTABLISH A COMMON EUROPEAN FRAMEWORK FOR QUALITY ASSESSMENT/, European journal of human genetics, 5(6), 1997, pp. 342-350
PMM (PMM1), THE HUMAN HOMOLOG OF SEC53 OR YEAST PHOSPHOMANNOMUTASE, IS LOCALIZED ON CHROMOSOME 22Q13
Authors: MATTHIJS G SCHOLLEN E PIRARD M BUDARF ML VANSCHAFTINGEN E CASSIMAN JJ
Citation: G. Matthijs et al., PMM (PMM1), THE HUMAN HOMOLOG OF SEC53 OR YEAST PHOSPHOMANNOMUTASE, IS LOCALIZED ON CHROMOSOME 22Q13, Genomics, 40(1), 1997, pp. 41-47
IN-SITU SURFACE-PLASMON RESONANCE ANALYSIS OF DEXTRAN MONOLAYER DEGRADATION BY DEXTRANASE
Authors: FRAZIER RA DAVIES MC MATTHIJS G ROBERTS CJ SCHACHT E TENDLER SJB WILLIAMS PM
Citation: Ra. Frazier et al., IN-SITU SURFACE-PLASMON RESONANCE ANALYSIS OF DEXTRAN MONOLAYER DEGRADATION BY DEXTRANASE, Langmuir, 13(26), 1997, pp. 7115-7120
HIGH-RESOLUTION ATOMIC-FORCE MICROSCOPY OF DEXTRAN MONOLAYER HYDRATION
Authors: FRAZIER RA DAVIES MC MATTHIJS G ROBERTS CJ SCHACHT E TENDLER SJB WILLIAMS PM
Citation: Ra. Frazier et al., HIGH-RESOLUTION ATOMIC-FORCE MICROSCOPY OF DEXTRAN MONOLAYER HYDRATION, Langmuir, 13(18), 1997, pp. 4795-4798
COMPLEX GENOMIC REARRANGEMENT IN THE SMA-REGION ON CHROMOSOME 5Q13 INA PATIENT WITH SEVERE CONGENITAL WERDNIG-HOFFMANN DISEASE
Authors: LAMMENS M DEVRIENDT K MATTHIJS G SCHOLLEN E VANHOLE C DEVLIEGER H FRIJNS JP DOM R
Citation: M. Lammens et al., COMPLEX GENOMIC REARRANGEMENT IN THE SMA-REGION ON CHROMOSOME 5Q13 INA PATIENT WITH SEVERE CONGENITAL WERDNIG-HOFFMANN DISEASE, Acta neurologica belgica, 97(1), 1997, pp. 53-53
TRISOMY-15 RESCUE WITH JUMPING TRANSLOCATION OF DISTAL 15Q IN PRADER-WILLI-SYNDROME
Authors: DEVRIENDT K PETIT P MATTHIJS G VERMEESCH JR HOLVOET M DEMUELENAERE A MARYNEN P CASSIMAN JJ FRYNS JP
Citation: K. Devriendt et al., TRISOMY-15 RESCUE WITH JUMPING TRANSLOCATION OF DISTAL 15Q IN PRADER-WILLI-SYNDROME, Journal of Medical Genetics, 34(5), 1997, pp. 395-399
Risultati: 1-25 | 26-50 | 51-53