1 - 25 of 27 results for author:"Alhenc-Gelas M." in Literature citations
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| Arterial and venous thrombosis and prothrombotic fibrin clot phenotype in a Polish family with type 1 antithrombin deficiency (antithrombin Krakow). Celinska-Lowenhoff M., Iwaniec T., Alhenc-Gelas M., Musial J., Undas A. Thromb. Haemost. 106:379-381(2011) · Mapped (10) |
| Protein S inherited qualitative deficiency: novel mutations and phenotypic influence. Alhenc-Gelas M., Canonico M., Morange P.E., Emmerich J. J. Thromb. Haemost. 8:2718-2726(2010) · Mapped (28) |
| Influence of natural SERPINC1 mutations on ex vivo thrombin generation. Alhenc-Gelas M., Canonico M., Picard V. J. Thromb. Haemost. 8:845-848(2010) · Mapped (10) |
| Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency. Picard V., Chen J.M., Tardy B., Aillaud M.F., Boiteux-Vergnes C., Dreyfus M., Emmerich J., Lavenu-Bombled C., Nowak-Gottl U., Trillot N. et al. Hum. Genet. 127:45-53(2010) · Mapped (10) |
| Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency. Pintao M.C., Garcia A.A., Borgel D., Alhenc-Gelas M., Spek C.A., de Visser M.C., Gandrille S., Reitsma P.H. Hum. Genet. 126:449-456(2009) · Mapped (28) |
| Influence of PROS1 gene mutations affecting protein S amino-acid 275 on plasma free protein S measurement. Alhenc Gelas M., Juin F., de Raucourt E., Gandrille S., Borgel D., Aiach M. Thromb. Haemost. 97:678-680(2007) · Mapped (28) |
| Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene. Picard V., Nowak-Gottl U., Biron-Andreani C., Fouassier M., Frere C., Goualt-Heilman M., de Maistre E., Regina S., Rugeri L., Ternisien C. et al. Hum. Mutat. 27:600-600(2006) · Mapped (10) |
| Prothrombotic mutations, hormone therapy, and venous thromboembolism among postmenopausal women: impact of the route of estrogen administration. Straczek C., Oger E., Yon de Jonage-Canonico M.B., Plu-Bureau G., Conard J., Meyer G., Alhenc-Gelas M., Levesque H., Trillot N., Barrellier M.T. et al. Circulation 112:3495-3500(2005) · Mapped (21) |
| Conformational Asn187Asp/Lys antithrombin variants and thrombosis. Clinical and biological features in 13 new heterozygotes. Picard V., Bauters A., Khairy M., Ochat N., Jude B., Aiach M., Alhenc-Gelas M. Thromb. Haemost. 93:57-62(2005) · Mapped (10) |
| The factor II G20210A gene polymorphism, but not factor V Arg506Gln, is associated with peripheral arterial disease: results of a case-control study. Reny J.L., Alhenc-Gelas M., Fontana P., Bissery A., Julia P.L., Fiessinger J.N., Aiach M., Emmerich J. J. Thromb. Haemost. 2:1334-1340(2004) · Mapped (21) |
| Familial thrombophilia is an oligogenetic disease: involvement of the prothrombin G20210A, PROC and PROS gene mutations. Boinot C., Borgel D., Kitzis A., Guicheteau M., Aiach M., Alhenc-Gelas M. Blood Coagul. Fibrinolysis 14:191-196(2003) · UniProtKB (1) |
| Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. Picard V., Dautzenberg M.-D., Villoutreix B.O., Orliaguet G., Alhenc-Gelas M., Aiach M. |
| The -33T-->C polymorphism in intron 7 of the TFPI gene influences the risk of venous thromboembolism, independently of the factor V Leiden and prothrombin mutations. Ameziane N., Seguin C., Borgel D., Fumeron F., Moatti D., Alhenc-Gelas M., Grandchamp B., Aiach M., Emmerich J., de Prost D. Thromb. Haemost. 88:195-199(2002) · Mapped (16) |
| Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate. Baud O., Picard V., Durand P., Duchemin J., Proulle V., Alhenc-Gelas M., Devictor D., Dreyfus M. J. Pediatr. 139:741-743(2001) · UniProtKB (1) |
| Thrombomodulin promoter mutations, venous thrombosis, and varicose veins. Le Flem L., Mennen L., Aubry M.L., Aiach M., Scarabin P.Y., Emmerich J., Alhenc-Gelas M. Arterioscler. Thromb. Vasc. Biol. 21:445-451(2001) · Mapped (2) |
| The FXIII Val 34 Leu mutation and the risk of venous thrombosis. Alhenc-Gelas M., Reny J.L., Aubry M.L., Aiach M., Emmerich J. Thromb. Haemost. 84:1117-1118(2000) · Mapped (4) |
| Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the antithrombin gene. Picard V., Bura A., Emmerich J., Alhenc-Gelas M., Biron C., Houbouyan-Reveillard L.L., Molho P., Labatide-Alanore A., Sie P., Toulon P. et al. Br. J. Haematol. 110:731-734(2000) · UniProtKB (1) |
| Complex association of protein C gene promoter polymorphism with circulating protein C levels and thrombotic risk. Aiach M., Nicaud V., Alhenc-Gelas M., Gandrille S., Arnaud E., Amiral J., Guize L., Fiessinger J.N., Emmerich J. Arterioscler. Thromb. Vasc. Biol. 19:1573-1576(1999) · Mapped (20) |
| Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type IIa deficiencies. The French network on molecular abnormalities responsible for protein C and protein S deficiencies J. Lab. Clin. Med. 128:218-227(1996) · UniProtKB (1) |
| Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity. Gandrille S., Alhenc-Gelas M., Gaussem P., Aillaud M.-F., Dupuy E., Juhan-Vague I., Aiach M. Blood 82:159-168(1993) · UniProtKB (1) |
| Compound heterozygosity in a family with protein C deficiency illustrating the complexity of the underlying molecular mechanism. Gandrille S., Jude B., Alhenc-Gelas M., Millaire A., Aiach M. Thromb. Haemost. 70:747-752(1993) · Mapped (2) |
| Three novel mutations of antithrombin inducing high-molecular-mass compounds. Emmerich J., Vidaud D., Alhenc-Gelas M., Chadeuf G., Gouault-Heilmann M., Aillaud M.-F., Aiach M. Arterioscler. Thromb. 14:1958-1965(1994) · UniProtKB (1) |
| Influence of six mutations of the protein C gene on the Gla domain conformation and calcium affinity. Gaussem P., Gandrille S., Duchemin J., Emmerich J., Alhenc-Gelas M., Aillaud M.-F., Aiach M. Thromb. Haemost. 71:748-754(1994) · UniProtKB (1) |
| First de novo mutations in the protein C gene of two patients with type I deficiency: a missense mutation and a splice site deletion. Gandrille S., Jude B., Alhenc-Gelas M., Emmerich J., Aiach M. Blood 84:2566-2570(1994) · UniProtKB (1) |
| Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6. Emmerich J., Chadeuf G., Alhenc-Gelas M., Gouault-Heilman M., Toulon P., Fiessinger J.-N., Aiach M. Thromb. Haemost. 72:534-539(1994) · UniProtKB (1) |