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Results: 1-8 |
Results: 8
DETERMINATION OF THE GENOMIC STRUCTURE OF THE COL4A4 GENE AND OF NOVEL MUTATIONS CAUSING AUTOSOMAL RECESSIVE ALPORT-SYNDROME
Authors: BOYE E MOLLET G FORESTIER L COHENSOLAL L HEIDET H COCHAT P GRUNFELD JP PALCOUX JB GUBLER MC ANTIGNAC C
Citation: E. Boye et al., DETERMINATION OF THE GENOMIC STRUCTURE OF THE COL4A4 GENE AND OF NOVEL MUTATIONS CAUSING AUTOSOMAL RECESSIVE ALPORT-SYNDROME, American journal of human genetics, 63(5), 1998, pp. 1329-1340
ALTERED COLLAGEN OF HUMAN PATHOLOGICAL FIBROBLASTS IMPAIRS THE SYNTHESIS OF FIBRONECTIN
Authors: LEBBE C FONT J BONAVENTURE J PICHON J WANTYGHEM J ROSSI M HAENTJENS G COHENSOLAL L AUBERY M
Citation: C. Lebbe et al., ALTERED COLLAGEN OF HUMAN PATHOLOGICAL FIBROBLASTS IMPAIRS THE SYNTHESIS OF FIBRONECTIN, Matrix biology, 15(7), 1997, pp. 503-507
NOVEL COL4A5 COL4A6 DELETIONS AND FURTHER CHARACTERIZATION OF THE DIFFUSE LEIOMYOMATOSIS-ALPORT-SYNDROME (DL-AS) LOCUS DEFINE THE DL CRITICAL REGION/
Authors: HEIDET L COHENSOLAL L BOYE E THORNER P KEMPER MJ DAVID A PIET LL ZHOU J FLINTER F ZHANG X GUBLER MC ANTIGNAC C
Citation: L. Heidet et al., NOVEL COL4A5 COL4A6 DELETIONS AND FURTHER CHARACTERIZATION OF THE DIFFUSE LEIOMYOMATOSIS-ALPORT-SYNDROME (DL-AS) LOCUS DEFINE THE DL CRITICAL REGION/, Cytogenetics and cell genetics, 78(3-4), 1997, pp. 240-246
INTRAFAMILIAL VARIABLE EXPRESSIVITY OF OSTEOGENESIS IMPERFECTA DUE TOMOSAICISM FOR A LETHAL G382R SUBSTITUTION IN THE COL1A1 GENE
Authors: COHENSOLAL L ZOLEZZI F PIGNATTI PF MOTTES M
Citation: L. Cohensolal et al., INTRAFAMILIAL VARIABLE EXPRESSIVITY OF OSTEOGENESIS IMPERFECTA DUE TOMOSAICISM FOR A LETHAL G382R SUBSTITUTION IN THE COL1A1 GENE, Molecular and cellular probes, 10(3), 1996, pp. 219-225
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
ACHONDROGENESIS TYPE IB (FRACCARO) - STUDY OF COLLAGEN IN THE TISSUE AND IN CHONDROCYTES CULTURED IN AGAROSE
Authors: FREISINGER P STANESCU V JACOB B COHENSOLAL L MAROTEAUX P BONAVENTURE J
Citation: P. Freisinger et al., ACHONDROGENESIS TYPE IB (FRACCARO) - STUDY OF COLLAGEN IN THE TISSUE AND IN CHONDROCYTES CULTURED IN AGAROSE, American journal of medical genetics, 49(4), 1994, pp. 439-446
SUBSTITUTION OF AN ASPARTIC-ACID FOR GLYCINE-700 IN THE ALPHA-2(I) CHAIN OF TYPE-I COLLAGEN IN A RECURRENT LETHAL TYPE-II OSTEOGENESIS IMPERFECTA DRAMATICALLY AFFECTS THE MINERALIZATION OF BONE
Authors: COHENSOLAL L ZYLBERBERG L SANGALLI A LIRA MG MOTTES M
Citation: L. Cohensolal et al., SUBSTITUTION OF AN ASPARTIC-ACID FOR GLYCINE-700 IN THE ALPHA-2(I) CHAIN OF TYPE-I COLLAGEN IN A RECURRENT LETHAL TYPE-II OSTEOGENESIS IMPERFECTA DRAMATICALLY AFFECTS THE MINERALIZATION OF BONE, The Journal of biological chemistry, 269(20), 1994, pp. 14751-14758
REEXPRESSION OF CARTILAGE-SPECIFIC GENES BY DEDIFFERENTIATED HUMAN ARTICULAR CHONDROCYTES CULTURED IN ALGINATE BEADS
Authors: BONAVENTURE J KADHOM N COHENSOLAL L NG KH BOURGUIGNON J LASSELIN C FREISINGER P
Citation: J. Bonaventure et al., REEXPRESSION OF CARTILAGE-SPECIFIC GENES BY DEDIFFERENTIATED HUMAN ARTICULAR CHONDROCYTES CULTURED IN ALGINATE BEADS, Experimental cell research, 212(1), 1994, pp. 97-104
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