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Page 1
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.
de la Morena-Barrio ME, Suchon P, Jacobsen EM, Iversen N, Miñano A, de la Morena-Barrio B, Bravo-Pérez C, Padilla J, Cifuentes R, Asenjo S, Deleuze JF, Trégouët DA, Lozano ML, Vicente V, Sandset PM, Morange PE, Corral J. de la Morena-Barrio ME, et al. Among authors: deleuze jf. Blood. 2022 Jul 14;140(2):140-151. doi: 10.1182/blood.2021014708. Blood. 2022. PMID: 35486842 Free PMC article.
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
Saultier P, Vidal L, Canault M, Bernot D, Falaise C, Pouymayou C, Bordet JC, Saut N, Rostan A, Baccini V, Peiretti F, Favier M, Lucca P, Deleuze JF, Olaso R, Boland A, Morange PE, Gachet C, Malergue F, Fauré S, Eckly A, Trégouët DA, Poggi M, Alessi MC. Saultier P, et al. Among authors: deleuze jf. Haematologica. 2017 Jun;102(6):1006-1016. doi: 10.3324/haematol.2016.153577. Epub 2017 Mar 2. Haematologica. 2017. PMID: 28255014 Free PMC article.
Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation.
Ibrahim-Kosta M, Suchon P, Couturaud F, Smadja D, Olaso R, Germain M, Saut N, Goumidi L, Derbois C, Thibord F, Debette S, Amouyel P, Deleuze JF, van Doorn P, Castoldi E, Patin E, Alessi MC, Trégouët DA, Morange PE. Ibrahim-Kosta M, et al. Among authors: deleuze jf. Sci Rep. 2019 Mar 6;9(1):3750. doi: 10.1038/s41598-019-40172-x. Sci Rep. 2019. PMID: 30842582 Free PMC article.
Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.
Lindström S, Wang L, Smith EN, Gordon W, van Hylckama Vlieg A, de Andrade M, Brody JA, Pattee JW, Haessler J, Brumpton BM, Chasman DI, Suchon P, Chen MH, Turman C, Germain M, Wiggins KL, MacDonald J, Braekkan SK, Armasu SM, Pankratz N, Jackson RD, Nielsen JB, Giulianini F, Puurunen MK, Ibrahim M, Heckbert SR, Damrauer SM, Natarajan P, Klarin D; Million Veteran Program; de Vries PS, Sabater-Lleal M, Huffman JE; CHARGE Hemostasis Working Group; Bammler TK, Frazer KA, McCauley BM, Taylor K, Pankow JS, Reiner AP, Gabrielsen ME, Deleuze JF, O'Donnell CJ, Kim J, McKnight B, Kraft P, Hansen JB, Rosendaal FR, Heit JA, Psaty BM, Tang W, Kooperberg C, Hveem K, Ridker PM, Morange PE, Johnson AD, Kabrhel C, Trégouët DA, Smith NL. Lindström S, et al. Among authors: deleuze jf. Blood. 2019 Nov 7;134(19):1645-1657. doi: 10.1182/blood.2019000435. Blood. 2019. PMID: 31420334 Free PMC article.
An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism.
Razzaq M, Iglesias MJ, Ibrahim-Kosta M, Goumidi L, Soukarieh O, Proust C, Roux M, Suchon P, Boland A, Daiain D, Olaso R, Havervall S, Thalin C, Butler L, Deleuze JF, Odeberg J, Morange PE, Trégouët DA. Razzaq M, et al. Among authors: deleuze jf. Sci Rep. 2021 Jul 7;11(1):14015. doi: 10.1038/s41598-021-93390-7. Sci Rep. 2021. PMID: 34234248 Free PMC article.
Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.
Thibord F, Klarin D, Brody JA, Chen MH, Levin MG, Chasman DI, Goode EL, Hveem K, Teder-Laving M, Martinez-Perez A, Aïssi D, Daian-Bacq D, Ito K, Natarajan P, Lutsey PL, Nadkarni GN, de Vries PS, Cuellar-Partida G, Wolford BN, Pattee JW, Kooperberg C, Braekkan SK, Li-Gao R, Saut N, Sept C, Germain M, Judy RL, Wiggins KL, Ko D, O'Donnell CJ, Taylor KD, Giulianini F, De Andrade M, Nøst TH, Boland A, Empana JP, Koyama S, Gilliland T, Do R, Huffman JE, Wang X, Zhou W, Manuel Soria J, Carlos Souto J, Pankratz N, Haessler J, Hindberg K, Rosendaal FR, Turman C, Olaso R, Kember RL, Bartz TM, Lynch JA, Heckbert SR, Armasu SM, Brumpton B, Smadja DM, Jouven X, Komuro I, Clapham KR, Loos RJF, Willer CJ, Sabater-Lleal M, Pankow JS, Reiner AP, Morelli VM, Ridker PM, Vlieg AVH, Deleuze JF, Kraft P, Rader DJ; Global Biobank Meta-Analysis Initiative; Estonian Biobank Research Team; 23andMe Research Team; Biobank Japan; CHARGE Hemostasis Working Group; Min Lee K, Psaty BM, Heidi Skogholt A, Emmerich J, Suchon P, Rich SS, Vy HMT, Tang W, Jackson RD, Hansen JB, Morange PE, Kabrhel C, Trégouët DA, Damrauer SM, Johnson AD, Smith NL. Thibord F, et al. Among authors: deleuze jf. Circulation. 2022 Oct 18;146(16):1225-1242. doi: 10.1161/CIRCULATIONAHA.122.059675. Epub 2022 Sep 26. Circulation. 2022. PMID: 36154123 Free PMC article.
Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.
Iglesias MJ, Sanchez-Rivera L, Ibrahim-Kosta M, Naudin C, Munsch G, Goumidi L, Farm M, Smith PM, Thibord F, Kral-Pointner JB, Hong MG, Suchon P, Germain M, Schrottmaier W, Dusart P, Boland A, Kotol D, Edfors F, Koprulu M, Pietzner M, Langenberg C, Damrauer SM, Johnson AD, Klarin DM, Smith NL, Smadja DM, Holmström M, Magnusson M, Silveira A, Uhlén M, Renné T, Martinez-Perez A, Emmerich J, Deleuze JF, Antovic J, Soria Fernandez JM, Assinger A, Schwenk JM, Souto Andres JC, Morange PE, Butler LM, Trégouët DA, Odeberg J. Iglesias MJ, et al. Among authors: deleuze jf. Nat Commun. 2023 Jun 7;14(1):3280. doi: 10.1038/s41467-023-38383-y. Nat Commun. 2023. PMID: 37286573 Free PMC article.
441 results