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Results: 1 to 20 of 116

1.

Antithrombin Rybnik: a new point mutation (nt 683 G>T) associated with type I antithrombin deficiency in a patient with venous thromboembolism and recurrent superficial venous thrombosis.

Szymańska M, Alhenc-Gelas M, Undas A.

Blood Coagul Fibrinolysis. 2013 Jul;24(5):579-80. doi: 10.1097/MBC.0b013e32835ef7b3. No abstract available.

PMID:
23807486
[PubMed - indexed for MEDLINE]
2.

Successful outcome in a pregnant woman with homozygous antithrombin deficiency.

Alguel G, Jochmans K, Simanek R, Ay C, Quehenberger P, Langer M, Pabinger I.

Thromb Haemost. 2007 Dec;98(6):1377-8. No abstract available.

PMID:
18064341
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism.

Kuhle S, Lane DA, Jochmanns K, Male C, Quehenberger P, Lechner K, Pabinger I.

Thromb Haemost. 2001 Oct;86(4):1007-11. Review.

PMID:
11686316
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

Molecular basis of type I antithrombin deficiency in two women with recurrent venous thromboembolism in the first trimester of pregnancy.

Xia Y, Lu QY, Lu YL, Dai J, Ding QL, Wang XF, Xi XD, Wang HL.

Blood Cells Mol Dis. 2012 Apr 15;48(4):254-9. doi: 10.1016/j.bcmd.2012.02.005. Epub 2012 Mar 15.

PMID:
22424603
[PubMed - indexed for MEDLINE]
11.

Creation of an additional glycosylation site as a mechanism for type I antithrombin deficiency.

Fitches AC, Lewandowski K, Olds RJ.

Thromb Haemost. 2001 Oct;86(4):1023-7.

PMID:
11686319
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Antithrombin deficiency in three Japanese families: one novel and two reported point mutations in the antithrombin gene.

Maruyama K, Morishita E, Karato M, Kadono T, Sekiya A, Goto Y, Sato T, Nomoto H, Omi W, Tsuzura S, Imai H, Asakura H, Ohtake S, Nakao S.

Thromb Res. 2013 Aug;132(2):e118-23. doi: 10.1016/j.thromres.2013.06.001. Epub 2013 Jun 25.

PMID:
23809926
[PubMed - indexed for MEDLINE]
14.

High long-term absolute risk of recurrent venous thromboembolism in patients with hereditary deficiencies of protein S, protein C or antithrombin.

Brouwer JL, Lijfering WM, Ten Kate MK, Kluin-Nelemans HC, Veeger NJ, van der Meer J.

Thromb Haemost. 2009 Jan;101(1):93-9.

PMID:
19132194
[PubMed - indexed for MEDLINE]
15.

A novel nonsense mutation in the antithrombin III gene (Cys-4-->stop) causing recurrent venous thrombosis.

Saleun S, De Moerloose P, Bura A, Aiach M, Emmerich J.

Blood Coagul Fibrinolysis. 1996 Jul;7(5):578-9.

PMID:
8874869
[PubMed - indexed for MEDLINE]
16.

Mutations in the shutter region of antithrombin result in formation of disulfide-linked dimers and severe venous thrombosis.

Corral J, Huntington JA, González-Conejero R, Mushunje A, Navarro M, Marco P, Vicente V, Carrell RW.

J Thromb Haemost. 2004 Jun;2(6):931-9.

PMID:
15140129
[PubMed - indexed for MEDLINE]
17.

Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.

Millar DS, Wacey AI, Ribando J, Melissari E, Laursen B, Woods P, Kakkar VV, Cooper DN.

Hum Genet. 1994 Nov;94(5):509-12.

PMID:
7959685
[PubMed - indexed for MEDLINE]
18.

Compound heterozygosity involving Antithrombin Cambridge II (p.Ala416Ser) in antithrombin deficiency.

Águila S, Martínez-Martínez I, Collado M, Llamas P, Antón AI, Martínez-Redondo C, Padilla J, Miñano A, de la Morena-Barrio ME, Garcia-Avello Á, Vicente V, Corral J.

Thromb Haemost. 2013 Mar;109(3):556-8. doi: 10.1160/TH12-09-0707. Epub 2013 Jan 17. No abstract available.

PMID:
23329010
[PubMed - indexed for MEDLINE]
19.

Inherited antithrombin deficiency: a review.

Patnaik MM, Moll S.

Haemophilia. 2008 Nov;14(6):1229-39. doi: 10.1111/j.1365-2516.2008.01830.x. Review.

PMID:
19141163
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]
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