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Results: 1-25/32
Authors:
GAUCHER C
UNO H
YAMAZAKI T
MASHIBA H
MAZURIER C
Citation: C. Gaucher et al., A NEW CANDIDATE MUTATION (N528S) WITHIN THE VON-WILLEBRAND-FACTOR PROPEPTIDE IDENTIFIED IN A JAPANESE PATIENT WITH PHENOTYPE IIC OF VON-WILLEBRAND-DISEASE, European journal of haematology, 61(2), 1998, pp. 145-148
Authors:
BOWEN DJ
STANDEN GR
MAZURIER C
GAUCHER C
CUMMING A
KEENEY S
BIDWELL J
Citation: Dj. Bowen et al., TYPE 2N VON-WILLEBRAND-DISEASE - RAPID GENETIC DIAGNOSIS OF G2811A (R854Q), C2696T (R816W), T2701A (H817Q) AND G2823T (C858F) - DETECTION OF A NOVEL CANDIDATE TYPE 2N MUTATION - C2810T (R854W), Thrombosis and haemostasis, 80(1), 1998, pp. 32-36
Authors:
CASONATO A
GAUCHER C
PONTARA E
ZUCCHETTO A
ZERBINATI P
MAZURIER C
GIROLAMI A
Citation: A. Casonato et al., TYPE-2N VON-WILLEBRAND-DISEASE DUE TO ARG91GLN SUBSTITUTION AND A CYTOSINE DELETION IN EXON-18 OF THE VON-WILLEBRAND-FACTOR GENE, British Journal of Haematology, 103(1), 1998, pp. 39-41
Authors:
MAZURIER C
RIBBA AS
GAUCHER C
MEYER D
Citation: C. Mazurier et al., MOLECULAR-GENETICS OF VONWILLEBRAND-DISEASE, Annales de genetique, 41(1), 1998, pp. 34-43
Authors:
GAUCHER C
MAZURIER C
Citation: C. Gaucher et C. Mazurier, PHENOTYPE IIC VON-WILLEBRAND-DISEASE - IN CIS OR IN TRANS IMPACT OF PROPEPTIDE MUTATIONS ON VON-WILLEBRAND-FACTOR MULTIMERIZATION, Thrombosis and haemostasis, 1997, pp. 1490-1490
Authors:
GAUCHER C
PARQUET A
BAILLOD P
HANSS M
MAZURIER C
Citation: C. Gaucher et al., MUTATIONS LOCALIZED IN THE D3 DOMAIN OF VON-WILLEBRAND-FACTOR ARE IDENTIFIED IN PATIENTS CLASSIFIED IN TYPE-1 OR 2A OF VON-WILLEBRAND DISEASE, Thrombosis and haemostasis, 1997, pp. 1583-1583
Authors:
MAZURIER C
UNO H
YAMAZAKI T
GAUCHER C
Citation: C. Mazurier et al., IDENTIFICATION OF A NEW VON-WILLEBRAND-FACTOR PROPEPTIDE MUTATION (N528S) RESPONSIBLE FOR PHENOTYPE IIC VON-WILLEBRAND-DISEASE, Thrombosis and haemostasis, 1997, pp. 1584-1584
Authors:
JORIEUX S
GAUCHER C
FRESSINAUD E
GOUDEMAND J
MEYER D
MAZURIER C
Citation: S. Jorieux et al., MUTATIONS ON CYSTEINE RESIDUE-25 AND RESIDUE-95 OF MATURE VON-WILLEBRAND-FACTOR INDUCE TYPE 2N VON-WILLEBRAND-DISEASE, Thrombosis and haemostasis, 1997, pp. 1586-1586
Authors:
CULPAN D
STANDEN G
BOWEN D
GOODEVE A
MAZURIER C
GAUCHER C
BIDWELL J
Citation: D. Culpan et al., UHG-BASED MUTATION SCREENING IN TYPE 2A VON-WILLEBRANDS-DISEASE, Thrombosis and haemostasis, 1997, pp. 2664-2664
Authors:
JORIEUX S
GAUCHER C
PARQUET A
GOUDEMAND J
MAZURIER C
Citation: S. Jorieux et al., A NEW MUTATION, CYS-]ARG AT POSITION-297 OF MATURE VON-WILLEBRAND-FACTOR (VWF), IS IDENTIFIED IN SEVERAL PATIENTS WITH DECREASED FACTOR-VIII BINDING-CAPACITY OF VWF, Thrombosis and haemostasis, 1997, pp. 2668-2668
Authors:
LAVERGNE JM
FRESSINAUD E
GAUCHER C
RIBBA AS
DERLON A
JUHANVAGUE I
GOUDEMAND J
PARQUETGERNEZ A
LELOUCHE F
LEDFORD M
MAZURIER C
MEYER D
Citation: Jm. Lavergne et al., LOCALIZATION IN THE A1 LOOP (AA-509-695) OF VON-WILLEBRAND-FACTOR OF 8 NEW MUTATIONS RESPONSIBLE FOR TYPE 2A OR 2M VON-WILLEBRAND-DISEASE, Thrombosis and haemostasis, 1997, pp. 2669-2669
Authors:
HILBERT L
GAUCHER C
FRESSINAUD E
MEYER D
MAZURIER C
Citation: L. Hilbert et al., A NEW-TYPE 2M (TYPE-B) VWD MUTATION (G1324A) ALSO AT POSITION-561 OF THE MATURE VWF SUBUNIT, Thrombosis and haemostasis, 1997, pp. 2670-2670
Authors:
DEROMEUF C
GAUCHER C
MAZURIER C
Citation: C. Deromeuf et al., PLATELET DISCORDANT TYPE-1 AND TYPE-2 VON-WILLEBRAND-DISEASE MAY RESULT FROM DIMINISHED PLASMA VON-WILLEBRAND-FACTOR DISAPPEARANCE TIME, Thrombosis and haemostasis, 1997, pp. 2681-2681
Authors:
MEYER D
FRESSINAUD E
GAUCHER C
LAVERGNE JM
HILBERT L
RIBBA AS
JORIEUX S
MAZURIER C
Citation: D. Meyer et al., GENE DEFECTS IN 150 UNRELATED FRENCH CASES WITH TYPE-2 VON-WILLEBRAND-DISEASE - FROM THE PATIENT TO THE GENE, Thrombosis and haemostasis, 78(1), 1997, pp. 451-456
Authors:
CULPAN D
STANDEN G
WOOD N
MAZURIER C
GAUCHER C
BIDWELL J
Citation: D. Culpan et al., RAPID MUTATION SCREENING IN TYPE 2A VON WILLEBRANDS DISEASE USING UNIVERSAL HETERODUPLEX GENERATORS, British Journal of Haematology, 96(3), 1997, pp. 464-469
Authors:
MAZURIER C
GAUCHER C
JORIEUX S
PARQUETGERNEZ A
Citation: C. Mazurier et al., MUTATIONS IN THE FVIII GENE IN 7 FAMILIES WITH MILD HEMOPHILIA-A, British Journal of Haematology, 96(2), 1997, pp. 426-427
Authors:
PERNOD G
VINCIGUERRA C
GAUCHER C
MAZURIER C
POLACK B
NEGRIER C
Citation: G. Pernod et al., COMBINED HEREDITARY DISORDERS OF HEMOPHILIA-B LEYDEN (-6G-]A) AND TYPE-1 VON-WILLEBRAND DISEASE, Thrombosis and haemostasis, 76(2), 1996, pp. 151-155
Authors:
BAILLOD P
GAUCHER C
AFFOLTER B
MAZURIER C
PFLUGSHAUPT R
Citation: P. Baillod et al., NEW VARIANT OF TYPE-II VON-WILLEBRANDS-DISEASE WITH STRUCTURAL ABNORMALITY OF PLASMA VON-WILLEBRAND-FACTOR IN A PATIENT WITH VERY MILD BLEEDING HISTORY, American journal of hematology, 49(1), 1995, pp. 21-28
Authors:
GAUCHER C
HILBERT L
DIEVAL J
PARQUET A
MAZURIER C
Citation: C. Gaucher et al., THE TRANSIENT EXPRESSION OF 2 PHENOTYPE-HC CANDIDATE MUTATIONS CONFIRMS THE IMPORTANCE OF VWF PROPEPTIDE IN THE MULTIMERIZATION PROCESS, Thrombosis and haemostasis, 73(6), 1995, pp. 1168-1168
Authors:
GAUCHER C
HILBERT L
MERIANE F
MAZURIER C
PERNOD G
Citation: C. Gaucher et al., TYPE-2 VON-WILLEBRAND DISEASE RESULTING FROM AN INSERTION OR DELETIONIN THE 509-695 DISULFIDE LOOP OF VON-WILLEBRAND-FACTOR, Thrombosis and haemostasis, 73(6), 1995, pp. 1168-1168
Authors:
VASSE M
GAUCHER C
BEUFE S
VANDREDEN P
MONCONDUIT M
MAZURIER C
BORG JY
SORIA C
Citation: M. Vasse et al., ANALYSIS OF FACTOR-VIII IN A FAMILY WITH INHERITED RESISTANCE TO ACTIVATED PROTEIN-C WITHOUT FACTOR-V LEYDEN, Thrombosis and haemostasis, 73(6), 1995, pp. 1369-1369
Authors:
GAUCHER C
DEROMEUF C
RAUISMORRET M
CORAZZA F
FONDU P
MAZURIER C
Citation: C. Gaucher et al., DIAGNOSIS OF SUBTYPE 2B VAN WILLEBRAND DISEASE IN A PATIENT WITH 2A PHENOTYPE OF PLASMA VON-WILLEBRAND-FACTOR, Thrombosis and haemostasis, 73(4), 1995, pp. 610-616
Authors:
GAUCHER C
MAZURIER C
Citation: C. Gaucher et C. Mazurier, CHARACTERIZATION OF FACTOR-VIII GENE INVERSIONS USING A NONRADIOACTIVE DETECTION METHOD - A SURVEY OF 102 UNRELATED HEMOPHILIA-A FAMILIES FROM NORTHERN FRANCE, Nouvelle revue francaise d'hematologie, 37(2), 1995, pp. 131-136
Authors:
HILBERT L
GAUCHER C
MAZURIER C
Citation: L. Hilbert et al., EFFECTS OF DIFFERENT AMINO-ACID SUBSTITUTIONS IN THE LEUCINE-694 PROLINE-708 SEGMENT OF RECOMBINANT VON-WILLEBRAND-FACTOR, British Journal of Haematology, 91(4), 1995, pp. 983-990
Authors:
ANTONARAKIS SE
ROSSITER JP
YOUNG M
HORST J
DEMOERLOOSE P
SOMMER SS
KETTERLING RP
KAZAZIAN HH
NEGRIER C
VINCIGUERRA C
GITSCHIER J
GOOSSENS M
GIRODON E
GHANEM N
PLASSA F
LAVERGNE JM
VIDAUD M
COSTA JM
LAURIAN Y
LIN SW
LIN SR
SHEN MC
LILLICRAP D
TAYLOR SAM
WINDSOR S
VALLEIX SV
NAFA K
SULTAN Y
DELPECH M
VNENCAKJONES CL
PHILLIPS JA
LJUNG RCR
KOUMBARELIS E
GIALERAKI A
MANDALAKI T
JENKINS PV
COLLINS PW
PASI KJ
GOODEVE A
PEAKE I
PRESTON FE
SCHWARTZ M
SCHEIBEL E
INGERSLEV J
COOPER DN
MILLAR DS
KAKKAR VV
GIANNELLI F
NAYLOR JA
TIZZANO EF
BAIGET M
DOMENECH M
ALTISENT C
TUSELL J
BENEYTO M
LORENZO JI
GAUCHER C
MAZURIER C
PEERLINCK K
MATTHIJS G
CASSIMAN JJ
VERMYLEN J
MORI PG
ACQUILA M
CAPRINO D
INABA H
Citation: Se. Antonarakis et al., FACTOR-VIII GENE INVERSIONS IN SEVERE HEMOPHILIA-A - RESULTS OF AN INTERNATIONAL CONSORTIUM STUDY, Blood, 86(6), 1995, pp. 2206-2212