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Results: 1-25/33
Authors:
TESSON F
RICHARD P
CHARRON P
MATHIEU B
CRUAUD C
CARRIER L
DUBOURG O
LAUTIE N
DESNOS M
MILLAIRE A
ISNARD R
HAGEGE AA
BOUHOUR JB
BENNACEUR M
HAINQUE B
GUICHENEY P
SCHWARTZ K
KOMAJDA M
Citation: F. Tesson et al., GENOTYPE-PHENOTYPE ANALYSIS IN 4 FAMILIES WITH MUTATIONS IN BETA-MYOSIN HEAVY-CHAIN GENE RESPONSIBLE FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, Human mutation, 12(6), 1998, pp. 385-392
Authors:
SOLANGE B
CLERMONT O
BURLET P
CRUAUD C
HUBER C
FONDRAT C
MUNNICH A
LEFEBVRE S
Citation: B. Solange et al., A PUTATIVE RNA-BINDING MOTIF IS DETECTED BY COMPUTER-SEARCH IN THE ZEBRAFISH SMN GENE, AN ORTHOLOGUE OF THE SMA-DISEASE GENE, European journal of human genetics, 6, 1998, pp. 4054-4054
Authors:
BERNOT A
DASILVA C
PETIT JL
CRUAUD C
CALOUSTIAN C
CASTET V
AHMEDARAB M
DROSS C
DUPONT M
CATTAN D
SMAOUI N
DODE C
PECHEUX C
NEDELEC B
MEDAXIAN J
ROZENBAUM M
ROSNER I
DELPECH M
GRATEAU G
DEMAILLE J
WEISSENBACH J
TOUITOU I
Citation: A. Bernot et al., NON-FOUNDER MUTATIONS IN THE MEFV GENE ESTABLISH THIS GENE AS THE CAUSE OF FAMILIAL MEDITERRANEAN FEVER (FMF), Human molecular genetics (Print), 7(8), 1998, pp. 1317-1325
Authors:
BERNOT A
HEILIG R
CLEPET C
SMAOUI N
DASILVA C
PETIT JL
DEVAUD C
CHIANNILKULCHAI N
FIZAMES C
SAMSON D
CRUAUD C
CALOUSTIAN C
GYAPAY G
DELPECH M
WEISSENBACH J
Citation: A. Bernot et al., A TRANSCRIPTIONAL MAP OF THE FMF REGION, Genomics, 50(2), 1998, pp. 147-160
Authors:
JOUTEL A
CHABRIAT H
VAHEDI K
DOMENGA V
VAYSSIERE C
MACIAZEK J
CRUAUD C
BOUSSER MG
TOURNIERLASSERVE E
Citation: A. Joutel et al., NOTCH3 SPLICE-SITE MUTATION CAUSING AUTOSOMAL-DOMINANT MIGRAINE WITH MRI WHITE-MATTER ABNORMALITIES, Neurology, 50(4), 1998, pp. 11002-11002
Authors:
TOME FMS
HE Y
CHEVALLAY M
NICOLAS V
CRUAUD C
HORI H
MIZUTA T
ESTOURNET B
BAROIS A
FARDEAU M
GUICHENEY P
Citation: Fms. Tome et al., CONGENITAL MUSCULAR-DYSTROPHY WITH PARTIAL LAMININ ALPHA-2 CHAIN (MEROSIN) DEFICIENCY - IMMUNOCYTOCHEMICAL AND MOLECULAR STUDIES, Neurology, 50(4), 1998, pp. 15004-15004
Authors:
GUICHENEY P
VIGNIER N
ZHANG X
HE Y
CRUAUD C
FREY V
HELBLINGLECLERC A
RICHARD P
ESTOURNET B
MERLINI L
TOPALOGLU H
MORA M
HARPEY JP
HAENGGELI CA
BAROIS A
HAINQUE B
SCHWARTZ K
TOME FMS
FARDEAU M
TRYGGVASON K
Citation: P. Guicheney et al., PCR BASED MUTATION SCREENING OF THE LAMININ ALPHA-2 CHAIN GENE (LAMA2) - APPLICATION TO PRENATAL-DIAGNOSIS AND SEARCH FOR FOUNDER EFFECTS IN CONGENITAL MUSCULAR-DYSTROPHY, Journal of Medical Genetics, 35(3), 1998, pp. 211-217
Authors:
BERNOT A
CLEPET C
DASILVA C
DEVAUD C
PETIT JL
CALOUSTIAN C
CRUAUD C
SAMSON D
PULCINI F
WEISSENBACH J
HEILIG R
NOTANICOLA C
DOMINGO C
ROZENBAUM M
BENCHETRIT E
TOPALOGLU R
DEWALLE M
DROSS C
HADJARI P
DUPONT M
DEMAILLE J
TOUITOU I
SMAOUI N
NEDELEC B
MERY JP
CHAABOUNI H
DELPECH M
GRATEAU G
Citation: A. Bernot et al., A CANDIDATE GENE FOR FAMILIAL MEDITERRANEAN FEVER, Nature genetics, 17(1), 1997, pp. 25-31
Authors:
ABDELHAK S
KALATZIS V
HEILIG R
COMPAIN S
SAMSON D
VINCENT C
WEIL D
CRUAUD C
SAHLY I
LEIBOVICI M
BITNERGLINDZICZ M
FRANCIS M
LACOMBE D
VIGNERON J
CHARACHON R
BOVEN K
BEDBEDER P
VANREGEMORTER N
WEISSENBACH J
PETIT C
Citation: S. Abdelhak et al., A HUMAN HOMOLOG OF THE DROSOPHILA EYES ABSENT GENE UNDERLIES BRANCHIOOTORENAL (BOR) SYNDROME AND IDENTIFIES A NOVEL GENE FAMILY, Nature genetics, 15(2), 1997, pp. 157-164
Authors:
ABDELHAK S
KALATZIS V
HEILIG R
COMPAIN S
SAMSON D
VINCENT C
LEVIACOBAS F
CRUAUD C
LEMERRER M
MATHIEU M
KONIG R
VIGNERON J
WEISSENBACH J
PETIT C
WEIL D
Citation: S. Abdelhak et al., CLUSTERING OF MUTATIONS RESPONSIBLE FOR BRANCHIOOTORENAL (BOR) SYNDROME IN THE EYES ABSENT HOMOLOGOUS REGION (EYAHR) OF EYA1, Human molecular genetics, 6(13), 1997, pp. 2247-2255
Authors:
GUICHENEY P
VIGNIER N
HELBLINGLECLERC A
NISSINEN M
ZHANG X
CRUAUD C
LAMBERT JC
RICHELME C
TOPALOGLU H
MERLINI L
BAROIS A
SCHWARTZ K
TOME FMS
TRYGGVASON K
FARDEAU M
Citation: P. Guicheney et al., GENETICS OF LAMININ ALPHA-2 CHAIN (OR MEROSIN) DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY - FROM IDENTIFICATION OF MUTATIONS TO PRENATAL-DIAGNOSIS, Neuromuscular disorders, 7(3), 1997, pp. 180-186
Authors:
SIMMLER MC
HEARD E
ROUGEULLE C
CRUAUD C
WEISSENBACH J
AVNER P
Citation: Mc. Simmler et al., LOCALIZATION AND EXPRESSION ANALYSIS OF A NOVEL CONSERVED BRAIN EXPRESSED TRANSCRIPT, BRX BRX, LYING WITHIN THE XIC/XIC CANDIDATE REGION/, Mammalian genome, 8(10), 1997, pp. 760-766
Authors:
VIOLLET L
BERTRANDY S
BRUNIALTI ALB
LEFEBVRE S
BURLET P
CLERMONT O
CRUAUD C
GUENET JL
MUNNICH A
MELKI J
Citation: L. Viollet et al., CDNA ISOLATION, EXPRESSION, AND CHROMOSOMAL LOCALIZATION OF THE MOUSESURVIVAL MOTOR-NEURON GENE (SMN), Genomics, 40(1), 1997, pp. 185-188
Authors:
JOUTEL A
VAHEDI K
CORPECHOT C
TROESCH A
CHABRIAT H
VAYSSIERE C
CRUAUD C
MACIAZEK J
WEISSENBACH J
BOUSSER MG
BACH JF
TOURNIERLASSERVE E
Citation: A. Joutel et al., STRONG CLUSTERING AND STEREOTYPED NATURE OF NOTCH3 MUTATIONS IN CADASIL PATIENTS, Lancet, 350(9090), 1997, pp. 1511-1515
Authors:
JOUTEL A
CORPECHOT C
DUCROS A
VAHEDI K
CHABRIAT H
MOUTON P
ALAMOWITCH S
DOMENGA V
CECILLION M
MARECHAL E
MACIAZEK J
VAYSSIERE C
CRUAUD C
CABANIS EA
RUCHOUX MM
WEISSENBACH J
BACH JF
BOUSSER MG
TOURNIERLASSERVE E
Citation: A. Joutel et al., IDENTIFICATION OF THE CADASIL GENE, Stroke, 28(1), 1997, pp. 68-68
Authors:
JOUTEL A
CORPECHOT C
VAYSSIERE C
VAHEDI K
CHABRIAT H
MARECHAL E
MACIAZEK J
CRUAUD C
RUCHOUX MM
WEISSENBACH J
BOUSSER MG
TOURNIERLASSERVE E
Citation: A. Joutel et al., CHARACTERIZATION OF NOTCH3 MUTATIONS IN CADASIL PATIENTS, Neurology, 48(6), 1997, pp. 6-6
Authors:
CARRIER L
BONNE G
BAHREND E
YU B
RICHARD P
NIEL F
HAINQUE B
CRUAUD C
GARY F
LABEIT S
BOUHOUR JB
DUBOURG O
DESNOS M
HAGEGE AA
TRENT RJ
KOMAJDA M
FISZMAN M
SCHWARTZ K
Citation: L. Carrier et al., ORGANIZATION AND SEQUENCE OF HUMAN CARDIAC MYOSIN-BINDING-PROTEIN-C GENE (MYBPC3) AND IDENTIFICATION OF MUTATIONS PREDICTED TO PRODUCE TRUNCATED PROTEINS IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, Circulation research, 80(3), 1997, pp. 427-434
Authors:
DONGER C
DENJOY I
BERTHET M
NEYROUD N
CRUAUD C
BENNACEUR M
CHIVORET G
SCHWARTZ K
COUMEL P
GUICHENEY P
Citation: C. Donger et al., KVLQT1 C-TERMINAL MISSENSE MUTATION CAUSES A FORME-FRUSTE LONG-QT SYNDROME, Circulation, 96(9), 1997, pp. 2778-2781
Authors:
GUICHENEY P
DONGER C
DENJOY IF
NEYROUD N
BERTHET M
CRUAUD C
COUMEL P
SCHWARTZ K
Citation: P. Guicheney et al., KVLQT1 MUTATIONS IN LONG-QT-SYNDROME - PHENOTYPE GENOTYPE ANALYSIS, Circulation, 96(8), 1997, pp. 3477-3477
Authors:
CLERMONT O
BURLET P
CRUAUD C
BERTRANDY S
MELKI J
MUNNICH A
LEFEBVRE S
Citation: O. Clermont et al., MUTATION ANALYSES OF THE SMN GENE IN UNDELETED SMA PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1923-1923
Authors:
BERTRANDY S
CLERMONT O
BURLET P
CRUAUD C
FONDRAT C
THIERRYMIEG D
MUNNICH A
LEFEBVRE S
Citation: S. Bertrandy et al., THE SMN GENE IS CONSERVED DURING EVOLUTION, American journal of human genetics, 61(4), 1997, pp. 2223-2223
Authors:
SIMMLER MC
CUNNINGHAM DB
CLERC P
VERMAT T
CAUDRON B
CRUAUD C
PAWLAK A
SZPIRER C
WEISSENBACH J
CLAVERIE JM
AVNER P
Citation: Mc. Simmler et al., A 94 KB GENOMIC SEQUENCE-3' TO THE MURINE XIST GENE REVEALS AN AT RICH REGION CONTAINING A NEW TESTIS-SPECIFIC GENE TSX, Human molecular genetics, 5(11), 1996, pp. 1713-1726
Authors:
JOUTEL A
DUCROS A
ALAMOWITCH S
CRUAUD C
DOMENGA V
MARECHAL E
VAHEDI K
CHABRIAT H
BOUSSER MG
TOURNIERLASSERVE E
Citation: A. Joutel et al., A HUMAN HOMOLOG OF BACTERIAL ACETOLACTATE SYNTHASE GENES MAPS WITHIN THE CADASIL CRITICAL REGION, Genomics, 38(2), 1996, pp. 192-198
Authors:
BURGLEN L
LEFEBVRE S
CLERMONT O
BURLET P
VIOLLET L
CRUAUD C
MUNNICH A
MELKI J
Citation: L. Burglen et al., STRUCTURE AND ORGANIZATION OF THE HUMAN SURVIVAL MOTOR-NEURON (SMN) GENE, Genomics, 32(3), 1996, pp. 479-482
Authors:
JOUTEL A
CORPECHOT C
DUCROS A
VAHEDI K
CHABRIAT H
MOUTON P
ALAMOWITCH S
DOMENGA V
CECILLION M
MARECHAL E
MACIAZEK J
VAYSSIERE C
CRUAUD C
CABANIS EA
RUCHOUX MM
WEISSENBACH J
BACH JF
BOUSSER MG
TOURNIERLASSERVE E
Citation: A. Joutel et al., NOTCH3 MUTATIONS IN CADASIL, A HEREDITARY ADULT-ONSET CONDITION CAUSING STROKE AND DEMENTIA, Nature, 383(6602), 1996, pp. 707-710