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Results: 1-25/56
Authors:
BIENVENU T
DESPORTES V
SAINTMARTIN A
MCDONELL N
BILLUART P
CARRIE A
VINET MC
COUVERT P
TONIOLO D
ROPERS HH
MORAINE C
VANBOKHOVEN H
FRYNS JP
KAHN A
BELDJORD C
CHELLY J
Citation: T. Bienvenu et al., NONSPECIFIC X-LINKED SEMIDOMINANT MENTAL-RETARDATION BY MUTATIONS IN A RAB GDP-DISSOCIATION INHIBITOR, Human molecular genetics (Print), 7(8), 1998, pp. 1311-1315
Authors:
DESPORTES V
FRANCIS F
PINARD JM
DESGUERRE I
MOUTARD ML
SNOECK I
MEINERS LC
CAPRON F
CUSMAI R
RICCI S
MOTTE J
ECHENNE B
PONSOT G
DULAC O
CHELLY J
BELDJORD C
Citation: V. Desportes et al., DOUBLECORTIN IS THE MAJOR GENE CAUSING X-LINKED SUBCORTICAL LAMINAR HETEROTOPIA (SCLH), Human molecular genetics (Print), 7(7), 1998, pp. 1063-1070
Authors:
BIENVENU T
DESPORTES V
BELDJORD C
CHELLY J
Citation: T. Bienvenu et al., OLIGOPHRENIN-2 A RAB-GDI PROTEIN INVOLVED IN A X-LINKED NONSPECIFIC MENTAL-RETARDATION, MS. Medecine sciences, 14(8-9), 1998, pp. 988-990
Authors:
DEKEYZER Y
RENE P
BELDJORD C
LENNE F
BERTAGNA X
Citation: Y. Dekeyzer et al., OVEREXPRESSION OF VASOPRESSIN (V3) AND CORTICOTROPIN-RELEASING HORMONE-RECEPTOR GENES IN CORTICOTROPH TUMORS, Clinical endocrinology, 49(4), 1998, pp. 475-482
Authors:
DESPORTES V
PINARD JM
BILLUART P
VINET MC
KOULAKOFF A
CARRIE A
GELOT A
DUPUIS E
MOTTE J
BERWALDNETTER Y
CATALA M
KAHN A
BELDJORD C
CHELLY J
Citation: V. Desportes et al., A NOVEL CNS GENE REQUIRED FOR NEURONAL MIGRATION AND INVOLVED IN X-LINKED SUBCORTICAL LAMINAR HETEROTOPIA AND LISSENCEPHALY SYNDROME, Cell, 92(1), 1998, pp. 51-61
Authors:
BILLUART P
BIENVENU T
RONCE N
DESPORTES V
VINET MC
ZEMNI R
CROLLIUS HR
CARRIE A
FAUCHEREAU F
CHERRY M
BRIAULT S
HAMEL B
FRYNS JP
BELDJORD C
KAHN A
MORAINE C
CHELLY J
Citation: P. Billuart et al., OLIGOPHRENIN-1 ENCODES A RHOGAP PROTEIN INVOLVED IN X-LINKED MENTAL-RETARDATION, Nature, 392(6679), 1998, pp. 923-926
SOMATIC MUTATIONS OF THE BETA-CATENIN GENE ARE FREQUENT IN MOUSE AND HUMAN HEPATOCELLULAR CARCINOMAS
Authors:
DELACOSTE A
ROMAGNOLO B
BILLUART P
RENARD CA
BUENDIA MA
SOUBRANE O
FABRE M
CHELLY J
BELDJORD C
KAHN A
PERRET C
Citation: A. Delacoste et al., SOMATIC MUTATIONS OF THE BETA-CATENIN GENE ARE FREQUENT IN MOUSE AND HUMAN HEPATOCELLULAR CARCINOMAS, Proceedings of the National Academy of Sciences of the United Statesof America, 95(15), 1998, pp. 8847-8851
Authors:
CARTAULT F
STEFFANN J
VIDAUD D
BOUSQUET S
LESURE F
RENOUIL M
MCDONNELL N
FEINGOLD J
BELDJORD C
BIENVENU T
Citation: F. Cartault et al., DETECTION OF MORE THAN 91-PERCENT CYSTIC-FIBROSIS MUTATIONS IN A SAMPLE OF THE POPULATION FROM REUNION-ISLAND AND IDENTIFICATION OF 2 NOVELMUTATIONS (A309G, S1255L) AND ONE NOVEL POLYMORPHISM (L49L), Clinical genetics, 54(5), 1998, pp. 437-439
Authors:
DESPORTES V
CARRIE A
BILLUART P
KIEFFER V
BIENVENU T
VINET MC
BELDJORD C
KAHN A
PONSOT G
CHELLY J
MOUTARD ML
Citation: V. Desportes et al., INHERITED MICRODELETION IN XP21.3-22.1 INVOLVED IN NONSPECIFIC MENTAL-RETARDATION, Clinical genetics, 53(2), 1998, pp. 136-141
Authors:
DEQAQI SC
NGUESSAN M
FORNER J
SBITI A
BELDJORD C
CHELLY J
SEFIANI A
DESPORTES V
Citation: Sc. Deqaqi et al., A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX55) IS LOCATEDIN XP11, Annales de genetique, 41(1), 1998, pp. 11-16
Authors:
BIENVENU T
LEPERCQ J
ALLARD JP
HUBERT D
FRANCOUAL F
BELDJORD C
KAPLAN JC
Citation: T. Bienvenu et al., COMPOUND HETEROZYGOTES FOR A CF MUTATION AND THE 5T SPLICE VARIANT ASSOCIATED WITH VARIABLE PRESENTATIONS IN A FRENCH FAMILY, Annales de genetique, 41(1), 1998, pp. 63-64
Authors:
CHEVILLARD S
LEBEAU J
POUILLART P
DETOMA C
BELDJORD C
ASSELAIN B
KLIJANIENKO J
FOURQUET A
MAGDELENAT H
VIELH P
Citation: S. Chevillard et al., BIOLOGICAL AND CLINICAL-SIGNIFICANCE OF CONCURRENT P53 GENE ALTERATIONS, MDR1 GENE-EXPRESSION, AND S-PHASE FRACTION ANALYSES IN BREAST-CANCER PATIENTS TREATED WITH PRIMARY CHEMOTHERAPY OR RADIOTHERAPY, Clinical cancer research, 3(12), 1997, pp. 2471-2478
Authors:
BIENVENU T
DERSARKISSIAN H
BILLUART P
TISSOT M
DESPORTES V
BRULS T
CHABROLLE JP
CHAUVEAU P
CHERRY M
KAHN A
COHEN D
BELDJORD C
CHELLY J
CHERIF D
Citation: T. Bienvenu et al., MAPPING OF THE X-BREAKPOINT INVOLVED IN A BALANCED X-12-TRANSLOCATIONIN A FEMALE WITH MILD MENTAL-RETARDATION, European journal of human genetics, 5(2), 1997, pp. 105-109
Authors:
RODIEN P
JEUNEMAITRE X
DUMONT C
BELDJORD C
PLOUIN PF
Citation: P. Rodien et al., GENETIC ALTERATIONS OF THE RET PROTOONCOGENE IN FAMILIAL AND SPORADICPHEOCHROMOCYTOMAS, Hormone research, 47(4-6), 1997, pp. 263-268
Authors:
DESPORTES V
SOUFIR N
CARRIE A
BILLUART P
BIENVENU T
VINET MC
BELDJORD C
PONSOT G
KAHN A
BOUE J
CHELLY J
Citation: V. Desportes et al., GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX-47) IS LOCATED IN XQ22.3-Q24, American journal of medical genetics, 72(3), 1997, pp. 324-328
Authors:
CARRIE A
PICCOLO F
LETURCQ F
DETOMA C
AZIBI K
BELDJORD C
VALLAT JM
MERLINI L
VOIT T
SEWRY C
URTIZBEREA JA
ROMERO N
TOME FMS
FARDEAU M
SUNADA Y
CAMPBELL KP
KAPLAN JC
JEANPIERRE M
Citation: A. Carrie et al., MUTATIONAL DIVERSITY AND HOT-SPOTS IN THE ALPHA-SARCOGLYCAN GENE IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY (LGMD2D), Journal of Medical Genetics, 34(6), 1997, pp. 470-475
Authors:
DESPORTES V
PINARD JM
SMADJA D
MOTTE J
BOESPFLUGTANGUY O
MOUTARD ML
DESGUERRE I
BILLUART P
CARRIE A
BIENVENU T
VINET MC
BACHNER L
BELDJORD C
DULAC O
KAHN A
PONSOT G
CHELLY J
Citation: V. Desportes et al., DOMINANT X-LINKED SUBCORTICAL LAMINAR HETEROTOPIA AND LISSENCEPHALY SYNDROME (XSCLH LIS) - EVIDENCE FOR THE OCCURRENCE OF MUTATION IN MALESAND MAPPING OF A POTENTIAL LOCUS IN XQ22/, Journal of Medical Genetics, 34(3), 1997, pp. 177-183
Authors:
BIENVENU T
ADJIMAN M
THIOUNN N
JEANPIERRE M
HUBERT D
LEPERCQ J
FRANCOUAL C
WOLF JP
IZARD V
JOUANNET P
KAPLAN JC
BELDJORD C
Citation: T. Bienvenu et al., MOLECULAR DIAGNOSIS OF CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS - ANALYSES OF THE CFTR GENE IN 64 FRENCH PATIENTS, Annales de genetique, 40(1), 1997, pp. 5-9
Authors:
DESPORTES V
BILLUART P
CARRIE A
BACHNER L
BIENVENU T
VINET MC
BELDJORD C
PONSOT G
KAHN A
BOUE J
CHELLY J
Citation: V. Desportes et al., A GENE FOR DOMINANT NONSPECIFIC X-LINKED MENTAL-RETARDATION IS LOCATED IN XQ28, American journal of human genetics, 60(4), 1997, pp. 903-909
Authors:
BIENVENU T
BOUSQUET S
LYONNET S
KAPLAN JC
BELDJORD C
Citation: T. Bienvenu et al., 1283-DEL-A - A NOVEL MUTATION IN EXON-8 OF THE CYSTIC-FIBROSIS GENE, Human heredity, 47(3), 1997, pp. 173-175
Authors:
BIENVENU T
CHERTKOFF L
BELDJORD C
SEGAL E
CARNIGLIA L
BARREIRO C
KAPLAN JC
Citation: T. Bienvenu et al., IDENTIFICATION OF 3 NOVEL MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE IN ARGENTINEAN CF PATIENTS, Human mutation, 7(4), 1996, pp. 376-377
Authors:
BIENVENU T
HUBERT D
SETBON E
DUSSER D
KAPLAN JC
BELDJORD C
Citation: T. Bienvenu et al., NOVEL MISSENSE MUTATION IN EXON-16 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE IDENTIFIED IN CBAVD PATIENTS, Human mutation, 7(2), 1996, pp. 182-182
Authors:
BIENVENU T
BELDJORD C
CHELLY J
FONKNECHTEN N
HUBERT D
DUSSER D
KAPLAN JC
Citation: T. Bienvenu et al., ANALYSIS OF ALTERNATIVE SPLICING PATTERNS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE USING MESSENGER-RNA DERIVED FROM LYMPHOBLASTOID-CELLS OF CYSTIC-FIBROSIS PATIENTS, European journal of human genetics, 4(3), 1996, pp. 127-134
Authors:
BILLUART P
VINET MC
PORTES VD
LLENSE S
RICHARD L
MOUTARD ML
RECAN D
BRULS T
BIENVENU T
KAHN A
BELDJORD C
CHELLY J
Citation: P. Billuart et al., IDENTIFICATION BY STS PCR SCREENING OF A MICRODELETION IN XP21.3-22.1ASSOCIATED WITH NONSPECIFIC MENTAL-RETARDATION, Human molecular genetics, 5(7), 1996, pp. 977-979
Authors:
JEANPIERRE M
CARRIE A
PICCOLO F
LETURCQ F
AZIBI K
DETOMA C
BELDJORD C
MERLINI L
VOIT T
ROMERO N
SUNADA Y
TOME FMS
FARDEAU M
CAMPBELL KP
KAPLAN JC
Citation: M. Jeanpierre et al., FROM ADHALINOPATHIES TO ALPHA-SARCOGLYCANOPATHIES - AN OVERVIEW, Neuromuscular disorders, 6(6), 1996, pp. 463-465