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Items: 1 to 20 of 193

1.

Regulatory regions of SERPINC1 gene: identification of the first mutation associated with antithrombin deficiency.

de la Morena-Barrio ME, Antón AI, Martínez-Martínez I, Padilla J, Miñano A, Navarro-Fernández J, Águila S, López MF, Fontcuberta J, Vicente V, Corral J.

Thromb Haemost. 2012 Mar;107(3):430-7. doi: 10.1160/TH11-10-0701. Epub 2012 Jan 11.

PMID:
22234719
2.

Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.

Toderici M, de la Morena-Barrio ME, Padilla J, Miñano A, Antón AI, Iniesta JA, Herranz MT, Fernández N, Vicente V, Corral J.

PLoS One. 2016 Mar 22;11(3):e0152159. doi: 10.1371/journal.pone.0152159. eCollection 2016. Erratum in: PLoS One. 2016;11(7):e0159987.

3.

Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy.

Castaldo G, Cerbone AM, Guida A, Tandurella I, Ingino R, Tufano A, Ceglia C, Di Minno MN, Ruocco AL, Di Minno G.

Thromb Haemost. 2012 Apr;107(4):673-80. doi: 10.1160/TH11-09-0671. Epub 2012 Mar 8.

PMID:
22398878
4.

Molecular defects associated with antithrombin deficiency and dilated cardiomyopathy in a Japanese patient.

Fujimori Y, Okimatsu H, Kashiwagi T, Sanda N, Okumura K, Takagi A, Nagata K, Murate T, Uchida A, Node K, Saito H, Kojima T.

Intern Med. 2008;47(10):925-31. Epub 2008 May 15.

5.

Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis.

Nagaizumi K, Inaba H, Amano K, Suzuki M, Arai M, Fukutake K.

Int J Hematol. 2003 Jul;78(1):79-83.

PMID:
12894857
6.

A novel splice-site mutation c.42-2A>T (IVS1-2A>T) of SERPINC1 in a Korean family with inherited antithrombin deficiency.

Jang MJ, Lee JG, Chong SY, Huh JY, Jang MA, Kim HJ, Oh D.

Blood Coagul Fibrinolysis. 2011 Dec;22(8):742-5. doi: 10.1097/MBC.0b013e32834a7e17.

PMID:
21885952
7.

Molecular basis of antithrombin deficiency.

Luxembourg B, Delev D, Geisen C, Spannagl M, Krause M, Miesbach W, Heller C, Bergmann F, Schmeink U, Grossmann R, Lindhoff-Last E, Seifried E, Oldenburg J, Pavlova A.

Thromb Haemost. 2011 Apr;105(4):635-46. doi: 10.1160/TH10-08-0538. Epub 2011 Jan 25.

PMID:
21264449
8.

Antithrombin deficiency in Brazilian patients with venous thrombosis: molecular characterization of a single splice site mutation, an insertion and a de novo point mutation.

Arnaldi LA, Pretti FA, Zampieri JP, Ramos CF, Arruda VR, Annichino-Bizzacchi JM.

Thromb Res. 2001 Dec 15;104(6):397-403.

PMID:
11755949
9.

Antithrombin III deficiency in Indian patients with deep vein thrombosis: identification of first India based AT variants including a novel point mutation (T280A) that leads to aggregation.

Bhakuni T, Sharma A, Rashid Q, Kapil C, Saxena R, Mahapatra M, Jairajpuri MA.

PLoS One. 2015 Mar 26;10(3):e0121889. doi: 10.1371/journal.pone.0121889. eCollection 2015.

10.

Genetic analysis should be included in clinical practice when screening for antithrombin deficiency.

Zeng W, Tang L, Jian XR, Li YQ, Guo T, Wang QY, Liu H, Wu YY, Cheng ZP, Hu B, Lu X, Yu JM, Deng J, Wang HF, Sun CY, Yang Y, Hu Y.

Thromb Haemost. 2015 Feb;113(2):262-71. doi: 10.1160/TH14-05-0446. Epub 2014 Oct 9.

PMID:
25298121
11.

Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene.

Picard V, Nowak-Göttl U, Biron-Andreani C, Fouassier M, Frere C, Goualt-Heilman M, de Maistre E, Regina S, Rugeri L, Ternisien C, Trichet C, Vergnes C, Aiach M, Alhenc-Gelas M.

Hum Mutat. 2006 Jun;27(6):600. Erratum in: Hum Mutat. 2006 Nov;27(11):1160.

PMID:
16705712
12.

A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency.

Yoo JH, Maeng HY, Kim HJ, Lee KA, Choi JR, Song J.

Ann Clin Lab Sci. 2011 Fall;41(1):89-92.

PMID:
21325262
13.

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. 2011 Aug;106(2):379-81. doi: 10.1160/TH11-02-0066. Epub 2011 Jun 9. No abstract available.

PMID:
21655678
14.

SERPINC1 gene mutations in antithrombin deficiency.

Mulder R, Croles FN, Mulder AB, Huntington JA, Meijer K, Lukens MV.

Br J Haematol. 2017 Jul;178(2):279-285. doi: 10.1111/bjh.14658. Epub 2017 Mar 20.

PMID:
28317092
15.
16.

Molecular basis and thrombotic manifestations of antithrombin deficiency in 15 unrelated Chinese patients.

Ding Q, Wang M, Xu G, Ye X, Xi X, Yu T, Wang X, Wang H.

Thromb Res. 2013 Sep;132(3):367-73. doi: 10.1016/j.thromres.2013.07.013. Epub 2013 Aug 8.

PMID:
23932013
17.

Antithrombin Murcia (K241E) causing antithrombin deficiency: a possible role for altered glycosylation.

Martínez-Martínez I, Ordóñez A, Navarro-Fernández J, Pérez-Lara A, Gutiérrez-Gallego R, Giraldo R, Martínez C, Llop E, Vicente V, Corral J.

Haematologica. 2010 Aug;95(8):1358-65. doi: 10.3324/haematol.2009.015487. Epub 2010 Apr 30.

18.

Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency.

Luxembourg B, Pavlova A, Geisen C, Spannagl M, Bergmann F, Krause M, Alesci S, Seifried E, Lindhoff-Last E.

Thromb Haemost. 2014 Feb;111(2):249-57. doi: 10.1160/TH13-05-0402. Epub 2013 Nov 7.

PMID:
24196373
19.

c.1058C>T variant in the SERPINC1 gene is pathogenic for antithrombin deficiency.

Kumar R, Dawson JE, Chan AK, Forman-Kay JD, Kahr WH, Williams S.

Br J Haematol. 2015 Jul;170(1):123-5. doi: 10.1111/bjh.13261. Epub 2014 Dec 19. No abstract available.

PMID:
25522812
20.

Influence of natural SERPINC1 mutations on ex vivo thrombin generation.

Alhenc-Gelas M, Canonico M, Picard V.

J Thromb Haemost. 2010 Apr;8(4):845-8. doi: 10.1111/j.1538-7836.2010.03750.x. Epub 2010 Jan 17. No abstract available.

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