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Items: 1 to 20 of 130

1.

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.

PMID:
22398878
2.

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.

PMID:
22234719
3.

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
4.

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
5.

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
6.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
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.

PMID:
21264449
8.

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.

PMID:
23932013
9.

[Antithrombin deficiency due to heterozygous antithrombin gene mutation and a pedigree study].

Ye X, Feng Y, Jin PP, Zhou XH, Ding QL, Wang XF.

Zhonghua Xue Ye Xue Za Zhi. 2007 Sep;28(9):587-9. Chinese.

PMID:
18246812
10.

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.

11.

Two case reports of inherited antithrombin deficiency: a novel frameshift mutation and a large deletion including all seven exons detected using two methods.

Sekiya A, Morishita E, Karato M, Maruyama K, Shimogawara I, Omote M, Wakugawa Y, Shinohara M, Hayashi T, Kadohira Y, Asakura H, Nakao S, Ohtake S.

Int J Hematol. 2011 Feb;93(2):216-9. doi: 10.1007/s12185-010-0763-x.

PMID:
21240680
12.

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.

PMID:
24196373
13.

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
14.

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
15.

Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.

Andersen BD, Lind B, Philips M, Hansen AB, Ingerslev J, Thorsen S.

Thromb Haemost. 1996 Aug;76(2):143-50.

PMID:
8865520
16.

Molecular genotyping of the Italian cohort of patients with hemophilia B.

Belvini D, Salviato R, Radossi P, Pierobon F, Mori P, Castaldo G, Tagariello G; AICE HB Study Group..

Haematologica. 2005 May;90(5):635-42.

17.

Novel point mutations leading to type 1 antithrombin deficiency and thrombosis.

Olds RJ, Lane DA, Ireland H, Leone G, De Stefano V, Wiesel ML, Cazenave JP, Thein SL.

Br J Haematol. 1991 Jul;78(3):408-13.

PMID:
1873223
18.

Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency.

van Boven HH, Reitsma PH, Rosendaal FR, Bayston TA, Chowdhury V, Bauer KA, Scharrer I, Conard J, Lane DA.

Thromb Haemost. 1996 Mar;75(3):417-21.

PMID:
8701400
19.

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.

20.

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

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