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Results: 1-19 |
Results: 19
BERARDINELLI-SEIP-SYNDROME - A NEW PORTUGUESE DISEASE
Authors: VANMALDERGEM L DESILVA H FREITAS P DABRONZO F
Citation: L. Vanmaldergem et al., BERARDINELLI-SEIP-SYNDROME - A NEW PORTUGUESE DISEASE, European journal of human genetics, 6, 1998, pp. 1160-1160
CEREBRAL VENOUS THROMBOSIS AND PROCOAGULANT FACTORS - A CASE-STUDY
Authors: LEFEBVRE P LIERNEUX B LENAERTS L VANMALDERGEM L MARECAUX G DAUNE M BRUNINX G DELCOUR C WAUTRECHT JC
Citation: P. Lefebvre et al., CEREBRAL VENOUS THROMBOSIS AND PROCOAGULANT FACTORS - A CASE-STUDY, Angiology, 49(7), 1998, pp. 563-571
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
OSTEOGENESIS IMPERFECTS PHENOTYPES RESULTING FROM SERINE FOR GLYCINE SUBSTITUTIONS IN THE ALPHA-2(I) COLLAGEN CHAIN
Authors: NUYTINCK L WETTINCK K FREUND M VANMALDERGEM L FABRY G DEPAEPE A
Citation: L. Nuytinck et al., OSTEOGENESIS IMPERFECTS PHENOTYPES RESULTING FROM SERINE FOR GLYCINE SUBSTITUTIONS IN THE ALPHA-2(I) COLLAGEN CHAIN, European journal of human genetics, 5(3), 1997, pp. 161-167
MUTATIONAL ANALYSIS OF THE SOX9 GENE IN CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL - LACK OF GENOTYPE PHENOTYPE CORRELATIONS/
Authors: MEYER J SUDBECK P HELD M WAGNER T SCHMITZ ML BRICARELLI FD EGGERMONT E FRIEDRICH U HAAS OA KOBELT A LEROY JG VANMALDERGEM L MICHEL E MITULLA B PFEIFFER RA SCHINZEL A SCHMIDT H SCHERER G
Citation: J. Meyer et al., MUTATIONAL ANALYSIS OF THE SOX9 GENE IN CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL - LACK OF GENOTYPE PHENOTYPE CORRELATIONS/, Human molecular genetics, 6(1), 1997, pp. 91-98
LETHAL FEMORAL-FACIAL SYNDROME - A CASE WITH UNUSUAL MANIFESTATIONS
Authors: GILLEROT Y FOURNEAU C WILLEMS T VANMALDERGEM L
Citation: Y. Gillerot et al., LETHAL FEMORAL-FACIAL SYNDROME - A CASE WITH UNUSUAL MANIFESTATIONS, Journal of Medical Genetics, 34(6), 1997, pp. 518-519
HEREDITARY VITAMIN-D-RESISTANT RICKETS CAUSED BY A NOVEL MUTATION IN THE VITAMIN-D-RECEPTOR THAT RESULTS IN DECREASED AFFINITY FOR HORMONE AND CELLULAR HYPORESPONSIVENESS
Authors: MALLOY PJ ECCLESHALL TR GROSS C VANMALDERGEM L BOUILLON R FELDMAN D
Citation: Pj. Malloy et al., HEREDITARY VITAMIN-D-RESISTANT RICKETS CAUSED BY A NOVEL MUTATION IN THE VITAMIN-D-RECEPTOR THAT RESULTS IN DECREASED AFFINITY FOR HORMONE AND CELLULAR HYPORESPONSIVENESS, The Journal of clinical investigation, 99(2), 1997, pp. 297-304
MAPPING THE RP2 LOCUS FOR X-LINKED RETINITIS-PIGMENTOSA ON PROXIMAL XP - A GENETICALLY DEFINED 5-CM CRITICAL REGION AND EXCLUSION OF CANDIDATE GENES BY PHYSICAL MAPPING
Authors: THISELTON DL HAMPSON RM NAYUDU M VANMALDERGEM L WOLF ML SAHA BK BHATTACHARYA SS HARDCASTLE AJ
Citation: Dl. Thiselton et al., MAPPING THE RP2 LOCUS FOR X-LINKED RETINITIS-PIGMENTOSA ON PROXIMAL XP - A GENETICALLY DEFINED 5-CM CRITICAL REGION AND EXCLUSION OF CANDIDATE GENES BY PHYSICAL MAPPING, PCR methods and applications, 6(11), 1996, pp. 1093-1102
GENETICS OF THE BERARDINELLI-SEIP SYNDROME (CONGENITAL GENERALIZED LIPODYSTROPHY) IN NORWAY - EPIDEMIOLOGY AND GENE-MAPPING
Authors: GEDDEDAHL T TRYGSTAD O VANMALDERGEM L MAGRE J VANDERHAGEN C OLAISEN B STENERSEN M MEVAG B COPEAU J DESBOISMOUTHON C VIGOUROUX C HILBERT P FAURE S WEISSENBACH J
Citation: T. Geddedahl et al., GENETICS OF THE BERARDINELLI-SEIP SYNDROME (CONGENITAL GENERALIZED LIPODYSTROPHY) IN NORWAY - EPIDEMIOLOGY AND GENE-MAPPING, Acta paediatrica, 85, 1996, pp. 52-58
SYNDROME OF LIPOATROPHIC DIABETES, VITAMIN-D-RESISTANT RICKETS, AND PERSISTENT MULLERIAN DUCTS IN A TURKISH BOY BORN TO CONSANGUINEOUS PARENTS
Authors: VANMALDERGEM L BACHY A FELDMAN D BOUILLON R MAASSEN J DREYER M REY R HOLM C GILLEROT Y
Citation: L. Vanmaldergem et al., SYNDROME OF LIPOATROPHIC DIABETES, VITAMIN-D-RESISTANT RICKETS, AND PERSISTENT MULLERIAN DUCTS IN A TURKISH BOY BORN TO CONSANGUINEOUS PARENTS, American journal of medical genetics, 64(3), 1996, pp. 506-513
3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY AND 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY - INBORN-ERRORS OF SERINE BIOSYNTHESIS
Authors: JAEKEN J DETHEUX M VANMALDERGEM L FRIJNS JP ALLIET P FOULON M CARCHON H VANSCHAFTINGEN E
Citation: J. Jaeken et al., 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY AND 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY - INBORN-ERRORS OF SERINE BIOSYNTHESIS, Journal of inherited metabolic disease, 19(2), 1996, pp. 223-226
3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY - AN INBORN ERROR OF SERINE BIOSYNTHESIS
Authors: JAEKEN J DETHEUX M VANMALDERGEM L FOULON M CARCHON H VANSCHAFTINGEN E
Citation: J. Jaeken et al., 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY - AN INBORN ERROR OF SERINE BIOSYNTHESIS, Archives of Disease in Childhood, 74(6), 1996, pp. 542-545
A VITAMIN-D-RECEPTOR GENE MUTATION THAT RESULTS IN DECREASED 1,25(OH)2D3 BINDING-AFFINITY AND CELLULAR HYPORESPONSIVENESS
Authors: MALLOY PJ ECCLESHALL TR VANMALDERGEM L BOUILLON R FELDMAN D
Citation: Pj. Malloy et al., A VITAMIN-D-RECEPTOR GENE MUTATION THAT RESULTS IN DECREASED 1,25(OH)2D3 BINDING-AFFINITY AND CELLULAR HYPORESPONSIVENESS, Journal of bone and mineral research, 10, 1995, pp. 167-167
SUBSTITUTION OF ASPARTIC-ACID FOR GLYCINE AT POSITION-310 IN TYPE-II COLLAGEN PRODUCES ACHONDROGENESIS-II, AND SUBSTITUTION OF SERINE AT POSITION-805 PRODUCES HYPOCHONDROGENESIS - ANALYSIS OF GENOTYPE-PHENOTYPE RELATIONSHIPS
Authors: BONAVENTURE J COHENSOLAL L RITVANIEMI P VANMALDERGEM L KADHOM N DELEZOIDE AL MAROTEAUX P PROCKOP DJ ALAKOKKO L
Citation: J. Bonaventure et al., SUBSTITUTION OF ASPARTIC-ACID FOR GLYCINE AT POSITION-310 IN TYPE-II COLLAGEN PRODUCES ACHONDROGENESIS-II, AND SUBSTITUTION OF SERINE AT POSITION-805 PRODUCES HYPOCHONDROGENESIS - ANALYSIS OF GENOTYPE-PHENOTYPE RELATIONSHIPS, Biochemical journal, 307, 1995, pp. 823-830
IMMUNOLOCALIZATION OF A 43 KDA PEROXISOMAL MEMBRANE-PROTEIN IN THE LIVER OF PATIENTS WITH GENERALIZED PEROXISOMAL DISORDERS
Authors: ESPEEL M ROELS F GIROS M MANDEL H PELTIER A POGGI F POLLTHE BT SMEITINK JAM VANMALDERGEM L SANTOS MJ
Citation: M. Espeel et al., IMMUNOLOCALIZATION OF A 43 KDA PEROXISOMAL MEMBRANE-PROTEIN IN THE LIVER OF PATIENTS WITH GENERALIZED PEROXISOMAL DISORDERS, European journal of cell biology, 67(4), 1995, pp. 319-327
CHRONIC FIBROSIS OF THE EXTRAOCULAR-MUSCLES AND POLYNEUROPATHY SEGREGATING IN A LARGE BELGIAN PEDIGREE
Authors: VANMALDERGEM L CORDONNIER M ENGLE E MELEBECK A GILSON P GILLEROT Y
Citation: L. Vanmaldergem et al., CHRONIC FIBROSIS OF THE EXTRAOCULAR-MUSCLES AND POLYNEUROPATHY SEGREGATING IN A LARGE BELGIAN PEDIGREE, American journal of human genetics, 57(4), 1995, pp. 581-581
CONGENITAL CUTIS LAXA WITH LIGAMENTOUS LAXITY AND DELAYED DEVELOPMENT, DANDY-WALKER MALFORMATION AND MINOR HEART AND OSSEOUS DEFECTS
Authors: BIVER A DERIJCKE S TOPPET V LEDOUXCORBUSIER M VANMALDERGEM L
Citation: A. Biver et al., CONGENITAL CUTIS LAXA WITH LIGAMENTOUS LAXITY AND DELAYED DEVELOPMENT, DANDY-WALKER MALFORMATION AND MINOR HEART AND OSSEOUS DEFECTS, Clinical genetics, 45(6), 1994, pp. 318-322
ORAL-FACIAL-DIGITAL SYNDROME TYPE-I IN A NEWBORN MALE
Authors: GILLEROT Y HEIMANN M FOURNEAU C VERELLENDUMOULIN C VANMALDERGEM L
Citation: Y. Gillerot et al., ORAL-FACIAL-DIGITAL SYNDROME TYPE-I IN A NEWBORN MALE, American journal of medical genetics, 46(3), 1993, pp. 335-338
COSEGREGATION OF CHARCOT-MARIE-TOOTH POLYNEUROPATHY WITH A 2-13 TRANSLOCATION
Authors: HILBERT P VANBROECKHOVEN C FOURNEAU C BOUCQUEY P DELBERGHE X GILLEROT Y VANMALDERGEM L
Citation: P. Hilbert et al., COSEGREGATION OF CHARCOT-MARIE-TOOTH POLYNEUROPATHY WITH A 2-13 TRANSLOCATION, American journal of human genetics, 53(3), 1993, pp. 1306-1306
Risultati: 1-19 |