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Results: 1 to 20 of 104

1.

Recurrent ischemic cerebrovascular events in a patient with type I antithrombin deficiency caused by 9788 G>A splice site mutation: a case report.

Szymańska M, Alhenc-Gelas M, Undas A.

Blood Coagul Fibrinolysis. 2013 Mar;24(2):213-5. doi: 10.1097/MBC.0b013e32835b2467.

PMID:
23358206
[PubMed - indexed for MEDLINE]
2.

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]
3.

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]
4.

Antithrombin Krakow II (c.624+1 G > T): a novel mutation leading to type 1 antithrombin deficiency.

Celinska-Löwenhoff M, Iwaniec T, Alhenc-Gelas M, Musial J, Undas A.

Blood Coagul Fibrinolysis. 2012 Jul;23(5):454-5. doi: 10.1097/MBC.0b013e32835361a7.

PMID:
22498983
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Plasma antithrombin III deficiency in ischaemic stroke in the young.

Nagaraja D, Christopher R, Tripathi M.

Neurol India. 1999 Jun;47(2):155-6. Review.

PMID:
10402346
[PubMed - indexed for MEDLINE]
Free Article
7.

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]
8.

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 LL, Molho P, Labatide-Alanore A, Sié P, Toulon P, Verdy E, Aiach M.

Br J Haematol. 2000 Sep;110(3):731-4.

PMID:
10997988
[PubMed - indexed for MEDLINE]
9.

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]
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.

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]
12.

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]
13.

Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

Kuhli C, Jochmans K, Scharrer I, Lüchtenberg M, Hattenbach LO.

Arch Ophthalmol. 2006 Aug;124(8):1165-9.

PMID:
16908819
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

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]
16.

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
[PubMed - indexed for MEDLINE]
17.

Role of antithrombin concentrate in treatment of hereditary antithrombin deficiency. An update.

Rodgers GM.

Thromb Haemost. 2009 May;101(5):806-12. Review.

PMID:
19404531
[PubMed - indexed for MEDLINE]
18.

Factor V Leiden mutation, deficiency of antithrombin III and elevation of factor VIII in a child with ischemic stroke: a case report.

Duran R, Biner B, Demir M, Celtik C, Karasalihoğlu S, Acunaş B.

Brain Dev. 2006 Oct;28(9):604-6. Epub 2006 Apr 27.

PMID:
16644163
[PubMed - indexed for MEDLINE]
19.

Usefulness of antithrombin deficiency phenotypes for risk assessment of venous thromboembolism: type I deficiency as a strong risk factor for venous thromboembolism.

Mitsuguro M, Sakata T, Okamoto A, Kameda S, Kokubo Y, Tsutsumi Y, Sano M, Miyata T.

Int J Hematol. 2010 Oct;92(3):468-73. doi: 10.1007/s12185-010-0687-5. Epub 2010 Sep 23.

PMID:
20859710
[PubMed - indexed for MEDLINE]
20.

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]

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