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Results: 1-13 |
Results: 13
NOVEL MUTATION (G188R) IN THE G6PASE GENE OF A PATIENT WITH GLYCOGEN-STORAGE-DISEASE TYPE 1A
Authors: TRIOCHE P LABRUNE P ODIEVRE M HEDCHOUEL M DELEUZE JF
Citation: P. Trioche et al., NOVEL MUTATION (G188R) IN THE G6PASE GENE OF A PATIENT WITH GLYCOGEN-STORAGE-DISEASE TYPE 1A, Human mutation, 1998, pp. 323-324
MUTATIONS IN THE MDR3 GENE CAUSE PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS
Authors: DEVREE JML JACQUEMIN E STURM E CRESTEIL D BOSMA PJ ATEN J DELEUZE JF DESROCHERS M BURDELSKI M BERNARD O ELFERINK RPJO HADCHOUEL M
Citation: Jml. Devree et al., MUTATIONS IN THE MDR3 GENE CAUSE PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS, Proceedings of the National Academy of Sciences of the United Statesof America, 95(1), 1998, pp. 282-287
SIMPLE, RAPID NONRADIOACTIVE METHOD TO DETECT THE 3 MOST PREVALENT HEREDITARY FRUCTOSE INTOLERANCE MUTATIONS
Authors: COSTA C COSTA JM DELEUZE JF LEGRAND A HADCHOUEL M BAUSSAN C
Citation: C. Costa et al., SIMPLE, RAPID NONRADIOACTIVE METHOD TO DETECT THE 3 MOST PREVALENT HEREDITARY FRUCTOSE INTOLERANCE MUTATIONS, Clinical chemistry, 44(5), 1998, pp. 1041-1043
MUTATIONS IN THE MDR3 GENE ARE RESPONSIBLE FOR A SUBTYPE OF PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (PFIC)
Authors: JACQUEMIN E DEVREE JML STURM E CRESTEIL D BOSMA PJ ATEN J DELEUZE JF DESROCHERS M BURDELSKI M BERNARD O HADCHOUEL M ELFERINK RPJO
Citation: E. Jacquemin et al., MUTATIONS IN THE MDR3 GENE ARE RESPONSIBLE FOR A SUBTYPE OF PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (PFIC), Hepatology, 26(4), 1997, pp. 480-480
DERMATOLOGICAL SYMPTOMS OF ALAGILLES SYND ROME - RESPONSE
Authors: DELEUZE JF HADCHOUEL M
Citation: Jf. Deleuze et M. Hadchouel, DERMATOLOGICAL SYMPTOMS OF ALAGILLES SYND ROME - RESPONSE, Gastroenterologie clinique et biologique, 20(2), 1996, pp. 207-208
DEFECT OF MULTIDRUG-RESISTANCE-3 GENE-EXPRESSION IN A SUBTYPE OF PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS
Authors: DELEUZE JF JACQUEMIN E DUBUISSON C CRESTEIL D DUMONT M ERLINGER S BERNARD O HADCHOUEL M
Citation: Jf. Deleuze et al., DEFECT OF MULTIDRUG-RESISTANCE-3 GENE-EXPRESSION IN A SUBTYPE OF PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS, Hepatology, 23(4), 1996, pp. 904-908
CONSTRUCTION OF A 3.7-MB PHYSICAL MAP WITHIN HUMAN-CHROMOSOME 20P12 ORDERING 18 MARKERS IN THE ALAGILLE SYNDROME LOCUS
Authors: POLLET N DHORNEPOLLET S DELEUZE JF BOCCACCIO C DRIANCOURT C RAYNAUD N LEPASLIER D HADCHOUEL M MEUNIERROTIVAL M
Citation: N. Pollet et al., CONSTRUCTION OF A 3.7-MB PHYSICAL MAP WITHIN HUMAN-CHROMOSOME 20P12 ORDERING 18 MARKERS IN THE ALAGILLE SYNDROME LOCUS, Genomics, 27(3), 1995, pp. 467-474
ALAGILLE-SYNDROME IN 1995 - CLINICAL AND GENETIC DATA
Authors: DELEUZE JF DHORNEPOLLET S POLLET N MEUNIERROTIVAL M HADCHOUEL M
Citation: Jf. Deleuze et al., ALAGILLE-SYNDROME IN 1995 - CLINICAL AND GENETIC DATA, Gastroenterologie clinique et biologique, 19(6-7), 1995, pp. 587-596
DELETED CHROMOSOME-20 FROM A PATIENT WITH ALAGILLE-SYNDROME ISOLATED IN A CELL HYBRID THROUGH LEUCINE TRANSPORT SELECTION - STUDY OF 3 CANDIDATE GENES
Authors: DELEUZE JF DHORNE S HAZAN J BORGHI E RAYNAUD N POLLET N MEUNIERROTIVAL M DESCHATRETTE J ALAGILLE D HADCHOUEL M
Citation: Jf. Deleuze et al., DELETED CHROMOSOME-20 FROM A PATIENT WITH ALAGILLE-SYNDROME ISOLATED IN A CELL HYBRID THROUGH LEUCINE TRANSPORT SELECTION - STUDY OF 3 CANDIDATE GENES, Mammalian genome, 5(11), 1994, pp. 663-669
DELETED CHROMOSOME-20 FROM A PATIENT WITH ALAGILLE-SYNDROME ISOLATED IN A CELL HYBRID THROUGH LEUCINE TRANSPORT SELECTION - STUDY OF 3 CANDIDATE GENES
Authors: DELEUZE JF DHORNE S HAZAN J BORGHI E RAYNAUD N POLLET N MEUNIERROTIVAL M DESCHATRETTE J ALAGILLE D HADCHOUEL M
Citation: Jf. Deleuze et al., DELETED CHROMOSOME-20 FROM A PATIENT WITH ALAGILLE-SYNDROME ISOLATED IN A CELL HYBRID THROUGH LEUCINE TRANSPORT SELECTION - STUDY OF 3 CANDIDATE GENES, Mammalian genome, 5(11), 1994, pp. 663-669
REPORT OF THE FIRST ERNATIONAL-WORKSHOP-ON-HUMAN-CHROMOSOME-20-MAPPING 1993 HELD ON SEPTEMBER 6-8, 1993 AT GIF-SUR-YVETTE, FRANCE
Authors: SMITH CL KEITH T HANSMANN I WEISSENBACH J ASIMAKOPOULOS FA BOWDEN DW DELEUZE JF DUTTON ER FASMAN KH GREEN T HADCHOUEL M HAZAN J HILGARTNER S KINGSBURY DK LODER B MALAFOSSE A MEUNIERROTIVAL M PEARSON PL SIRACUSA LD STEINLEIN O WHITE N WILLIAMSON CM
Citation: Cl. Smith et al., REPORT OF THE FIRST ERNATIONAL-WORKSHOP-ON-HUMAN-CHROMOSOME-20-MAPPING 1993 HELD ON SEPTEMBER 6-8, 1993 AT GIF-SUR-YVETTE, FRANCE, Cytogenetics and cell genetics, 66(2), 1994, pp. 77-82
SEGREGATION ANALYSIS OF ALAGILLE SYNDROME
Authors: DHORNEPOLLET S DELEUZE JF HADCHOUEL M BONAITIPELLIE C
Citation: S. Dhornepollet et al., SEGREGATION ANALYSIS OF ALAGILLE SYNDROME, Journal of Medical Genetics, 31(6), 1994, pp. 453-457
INFANTILE NEUROPATHY WITH UNSTABLE MYELIN - STUDY OF THE PO PROTEIN
Authors: PEUDENIER S DELEUZE JF PHAMDINH D LACROIX C BOULLOCHE J LANDRIEU P
Citation: S. Peudenier et al., INFANTILE NEUROPATHY WITH UNSTABLE MYELIN - STUDY OF THE PO PROTEIN, Journal of neurology, 240(5), 1993, pp. 291-294
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