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Results: 1-25 | 26-26
Results: 1-25/26
CONTRIBUTION OF A MULTIDISCIPLINARY CONSULTATION FOR THE DIAGNOSIS OFMARFANS-SYNDROME
Authors: CHEVALLIER B ALBERT M BOILEAU C CHAGNON S GOLDSCHILD M JONDEAU G LEPARC JM
Citation: B. Chevallier et al., CONTRIBUTION OF A MULTIDISCIPLINARY CONSULTATION FOR THE DIAGNOSIS OFMARFANS-SYNDROME, La Presse medicale, 27(28), 1998, pp. 1424-1426
MARFAN-DATABASE (3RD EDITION) - NEW MUTATIONS AND NEW ROUTINES FOR THE SOFTWARE
Authors: COLLODBEROUD G BEROUD C ADES L BLACK C BOXER M BROCKS DJH HOLMAN KJ DEPAEPE A FRANCKE U GRAU U HAYWARD C KLEIN HG LIU WG NUYTINCK L PELTONEN L PEREZ ABA RANTAMAKI T JUNIEN C BOILEAU C
Citation: G. Collodberoud et al., MARFAN-DATABASE (3RD EDITION) - NEW MUTATIONS AND NEW ROUTINES FOR THE SOFTWARE, Nucleic acids research, 26(1), 1998, pp. 229-233
LDLR DATABASE (2ND EDITION) - NEW ADDITIONS TO THE DATABASE AND THE SOFTWARE, AND RESULTS OF THE FIRST MOLECULAR ANALYSIS
Authors: VARRET M RABES JP THIART R KOTZE MJ BARON H CENARRO A DESCAMPS O EBHARDT M HONDELIJN JC KOSTNER GM MIYAKE Y POCOVI M SCHMIDT H SCHMIDT H SCHUSTER H STUHRMANN M YAMAMURA T JUNIEN C BEROUD C BOILEAU C
Citation: M. Varret et al., LDLR DATABASE (2ND EDITION) - NEW ADDITIONS TO THE DATABASE AND THE SOFTWARE, AND RESULTS OF THE FIRST MOLECULAR ANALYSIS, Nucleic acids research, 26(1), 1998, pp. 248-252
FAMILIAL LIGAND-DEFECTIVE APOLIPOPROTEIN B-100 - SIMULTANEOUS DETECTION OF THE ARG(3500)-]GLN AND ARG(3531)-]CYS MUTATIONS IN A FRENCH POPULATION
Authors: RABES JP VARRET M SAINTJORE B ERLICH D JONDEAU G KREMPF M GIRAUDET P JUNIEN C BOILEAU C
Citation: Jp. Rabes et al., FAMILIAL LIGAND-DEFECTIVE APOLIPOPROTEIN B-100 - SIMULTANEOUS DETECTION OF THE ARG(3500)-]GLN AND ARG(3531)-]CYS MUTATIONS IN A FRENCH POPULATION, Human mutation, 10(2), 1997, pp. 160-163
FAMILIAL HYPERCHOLESTEROLEMIA 25 YEARS AF TER .1. LDL RECEPTOR DEFECTS
Authors: VARRET M RABES JP BOILEAU C
Citation: M. Varret et al., FAMILIAL HYPERCHOLESTEROLEMIA 25 YEARS AF TER .1. LDL RECEPTOR DEFECTS, MS. Medecine sciences, 13(12), 1997, pp. 1399-1408
FAMILIAL HYPERCHOLESTEROLEMIA 25 YEARS AF TER .2. FORMS WITH NORMAL LDL RECEPTOR
Authors: RABES JP VARRET M BOILEAU C
Citation: Jp. Rabes et al., FAMILIAL HYPERCHOLESTEROLEMIA 25 YEARS AF TER .2. FORMS WITH NORMAL LDL RECEPTOR, MS. Medecine sciences, 13(12), 1997, pp. 1409-1418
ASTHMA IN CHILDREN, ACUTE EFFECTS OF AIR- POLLUTION, AN EPIDEMIOLOGIC-STUDY IN LE HAVRE AREA
Authors: LEROUX P BOILEAU C LOISEL I ROGER AM BOULLOCHE J CZERNICHOW P LELUYER B
Citation: P. Leroux et al., ASTHMA IN CHILDREN, ACUTE EFFECTS OF AIR- POLLUTION, AN EPIDEMIOLOGIC-STUDY IN LE HAVRE AREA, Revue francaise d'allergologie et d'immunologie clinique, 37(2), 1997, pp. 176-182
MARFAN DATABASE (2ND EDITION) - SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN FBN1 GENE
Authors: COLLODBEROUD G BEROUD C ADES L BLACK C BOXER M BROCK DJ GODFREY M HAYWARD C KARTTUNEN L MILEWICZ D PELTONEN L RICHARDS RI WANG M JUNIEN C BOILEAU C
Citation: G. Collodberoud et al., MARFAN DATABASE (2ND EDITION) - SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN FBN1 GENE, Nucleic acids research, 25(1), 1997, pp. 147-150
SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN LDL RECEPTOR GENE
Authors: VARRET M RABES JP COLLODBEROUD G JUNIEN C BOILEAU C BEROUD C
Citation: M. Varret et al., SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN LDL RECEPTOR GENE, Nucleic acids research, 25(1), 1997, pp. 172-180
ETHNOGRAPHY OF A REMOVAL OF ORGAN
Authors: BOILEAU C
Citation: C. Boileau, ETHNOGRAPHY OF A REMOVAL OF ORGAN, Sciences sociales et sante, 15(1), 1997, pp. 21-33
RESULTS OF THE MOLECULAR ANALYSIS OF THE 220 POINT MUTATIONS IN THE HUMAN LDL RECEPTOR GENE DATABASE
Authors: VARRET M RABES JP COLLODBEROUD G JUNIEN C BEROUD C BOILEAU C
Citation: M. Varret et al., RESULTS OF THE MOLECULAR ANALYSIS OF THE 220 POINT MUTATIONS IN THE HUMAN LDL RECEPTOR GENE DATABASE, Atherosclerosis, 134(1-2), 1997, pp. 74-74
GENETIC INPUT INTO THE PATHOPHYSIOLOGY AN D THE DIAGNOSIS OF MARFAN-SYNDROME
Authors: BOILEAU C COLLOD G BONNET D
Citation: C. Boileau et al., GENETIC INPUT INTO THE PATHOPHYSIOLOGY AN D THE DIAGNOSIS OF MARFAN-SYNDROME, Archives des maladies du coeur et des vaisseaux, 90(12), 1997, pp. 1707-1712
FIBULIN-2 - GENETIC-MAPPING AND EXCLUSION AS A CANDIDATE GENE IN MARFAN-SYNDROME TYPE-2
Authors: COLLOD G CHU ML SASAKI T COULON M TIMPL R RENKART L WEISSENBACH J JONDEAU G BOURDARIAS JP JUNIEN C BOILEAU C
Citation: G. Collod et al., FIBULIN-2 - GENETIC-MAPPING AND EXCLUSION AS A CANDIDATE GENE IN MARFAN-SYNDROME TYPE-2, European journal of human genetics, 4(5), 1996, pp. 292-295
FIBRILLINS AND FIBRILLINOPATHIES
Authors: COLLOD G BOILEAU C
Citation: G. Collod et C. Boileau, FIBRILLINS AND FIBRILLINOPATHIES, MS. Medecine sciences, 12(10), 1996, pp. 1077-1086
SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN FBN1GENE
Authors: COLLOD G BEROUD C SOUSSI T JUNIEN C BOILEAU C
Citation: G. Collod et al., SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN FBN1GENE, Nucleic acids research, 24(1), 1996, pp. 137-140
REPORT OF THE 6TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-3 MAPPING 1995 - HELD ON 23-24 OCTOBER 1995 - MINNEAPOLIS, MINNESOTA
Authors: NAYLOR SL CARRITT B BOILEAU C BEROUD C ALEXANDER C ALLDERDICE P ALIMOV A ASHWORTH T BONIFAS J BUGERT P BUYS CHCM CHIPPERFIELD MA DENG G DRABKIN H GEMMILL RM GROMPE M JOENSUU T JONASDOTTIR A GIZATULLIN R KROIS L LEACH RJ LOTT ST KILLARY A MARTINSSON T MESSIAEN L OCONNELL P OPALKA B PLAETKE R SANKILA EM SMITH DI STRACHEN T VANDENBERG A ZABAROVSKY E
Citation: Sl. Naylor et al., REPORT OF THE 6TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-3 MAPPING 1995 - HELD ON 23-24 OCTOBER 1995 - MINNEAPOLIS, MINNESOTA, Cytogenetics and cell genetics, 72(4), 1996, pp. 255-267
THE QUESTION OF HETEROGENEITY IN MARFAN-SYNDROME - REPLY
Authors: BOILEAU C JUNIEN C COLLOD G JONDEAU G DUBOURG O BOURDARIAS JP BONAITIPELLIE C FREZAL J MAROTEAUX P
Citation: C. Boileau et al., THE QUESTION OF HETEROGENEITY IN MARFAN-SYNDROME - REPLY, Nature genetics, 9(3), 1995, pp. 230-231
SINGLE-POINT MUTATION AT ARG(506) OF FACTOR-V ASSOCIATED WITH APC RESISTANCE AND VENOUS THROMBOEMBOLISM - IMPROVED DETECTION BY PCR-MEDIATED SITE-DIRECTED MUTAGENESIS
Authors: RABES JP TROSSAERT M CONARD J SAMAMA M GIRAUDET P BOILEAU C
Citation: Jp. Rabes et al., SINGLE-POINT MUTATION AT ARG(506) OF FACTOR-V ASSOCIATED WITH APC RESISTANCE AND VENOUS THROMBOEMBOLISM - IMPROVED DETECTION BY PCR-MEDIATED SITE-DIRECTED MUTAGENESIS, Thrombosis and haemostasis, 74(5), 1995, pp. 1379-1380
EXCLUSION OF THE FIBULIN-2 GENE AT 3P24.2P25 AS THE 2ND LOCUS FOR MARFAN-SYNDROME
Authors: COLLOD G CHU ML COULON M TIMPL R SASAKI T JONDEAU G BOURDARIAS JP JUNIEN C BOILEAU C
Citation: G. Collod et al., EXCLUSION OF THE FIBULIN-2 GENE AT 3P24.2P25 AS THE 2ND LOCUS FOR MARFAN-SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1211-1211
TOWARDS THE IDENTIFICATION OF A 3RD GENE INVOLVED IN FAMILIAL TYPE IIA HYPERCHOLESTEROLEMIA BY EXCLUSION MAPPING IN 2 FAMILIES
Authors: VARRET M RABES JP SAINTJORE B MARINONI JC KREMPF M EHRLICH D BONAITI C JUNIEN C BOILEAU C
Citation: M. Varret et al., TOWARDS THE IDENTIFICATION OF A 3RD GENE INVOLVED IN FAMILIAL TYPE IIA HYPERCHOLESTEROLEMIA BY EXCLUSION MAPPING IN 2 FAMILIES, American journal of human genetics, 57(4), 1995, pp. 1901-1901
A 2ND LOCUS FOR MARFAN-SYNDROME MAPS TO CHROMOSOME-3P24.2-P25
Authors: COLLOD G BABRON MC JONDEAU G COULON M WEISSENBACH J DUBOURG O BOURDARIAS JP BONAITIPELLIE C JUNIEN C BOILEAU C
Citation: G. Collod et al., A 2ND LOCUS FOR MARFAN-SYNDROME MAPS TO CHROMOSOME-3P24.2-P25, Nature genetics, 8(3), 1994, pp. 264-268
COAGULATION FIBRINOLYSIS BALANCE IN SEPTIC SHOCK RELATED TO CYTOKINESAND CLINICAL STATE/
Authors: MASSIGNON D LEPAPE A BIENVENU J BARBIER Y BOILEAU C COEUR P
Citation: D. Massignon et al., COAGULATION FIBRINOLYSIS BALANCE IN SEPTIC SHOCK RELATED TO CYTOKINESAND CLINICAL STATE/, Haemostasis, 24(1), 1994, pp. 36-48
FRENCH MYOTONIC-DYSTROPHY FAMILIES SHOW EXPANSION OF A CTG REPEAT IN COMPLETE LINKAGE DISEQUILIBRIUM WITH AN INTRAGENIC 1 KB INSERTION
Authors: LAVEDAN C HOFMANNRADVANYI H BOILEAU C BONAITIPELLIE C SAVOY D SHELBOURNE P DUROS C RABES JP DEHAUPAS I LUCE S JOHNSON K JUNIEN C
Citation: C. Lavedan et al., FRENCH MYOTONIC-DYSTROPHY FAMILIES SHOW EXPANSION OF A CTG REPEAT IN COMPLETE LINKAGE DISEQUILIBRIUM WITH AN INTRAGENIC 1 KB INSERTION, Journal of Medical Genetics, 31(1), 1994, pp. 33-36
MARFAN-SYNDROME OR MARFAN-LIKE CONNECTIVE-TISSUE DISORDER - REPLY
Authors: BOILEAU C JONDEAU G BOURDARIAS JP JUNIEN C
Citation: C. Boileau et al., MARFAN-SYNDROME OR MARFAN-LIKE CONNECTIVE-TISSUE DISORDER - REPLY, American journal of human genetics, 54(3), 1994, pp. 554-554
IDENTIFICATION OF THE HAPLOTYPE ASSOCIATED WITH THE APO-B-3500 MUTATION IN A FRENCH HYPERCHOLESTEROLEMIC SUBJECT - FURTHER SUPPORT FOR A UNIQUE EUROPEAN ANCESTRAL MUTATION
Authors: LOUX N SAINTJORE B COLLOD G BENLIAN P CAMBOU JP DENAT M JUNIEN C BOILEAU C
Citation: N. Loux et al., IDENTIFICATION OF THE HAPLOTYPE ASSOCIATED WITH THE APO-B-3500 MUTATION IN A FRENCH HYPERCHOLESTEROLEMIC SUBJECT - FURTHER SUPPORT FOR A UNIQUE EUROPEAN ANCESTRAL MUTATION, Human mutation, 2(2), 1993, pp. 145-147
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