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Items: 1 to 20 of 147

1.

Rapid genetic diagnosis in neonatal pulmonary artery thrombosis caused by homozygous antithrombin Budapest 3.

Brown SA, Mitchell M, Cutler JA, Moore G, Smith MP, Savidge GF.

Clin Appl Thromb Hemost. 2000 Jul;6(3):181-3.

PMID:
10898281
2.

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
3.

Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

Okajima K, Abe H, Maeda S, Motomura M, Tsujihata M, Nagataki S, Okabe H, Takatsuki K.

Blood. 1993 Mar 1;81(5):1300-5.

PMID:
8443391
4.

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
5.

Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.

Jochmans K, Lissens W, Vervoort R, Peeters S, De Waele M, Liebaers I.

Blood. 1994 Jan 1;83(1):146-51.

PMID:
8274732
6.

Recurrent leg ulcers and arterial thrombosis in a 33-year-old homozygous variant of antithrombin.

Shimizu K, Toriyama F, Ogawa F, Katayama I, Okajima K.

Am J Hematol. 2001 Apr;66(4):285-91.

7.

Homozygous antithrombin deficiency: report of two new cases (99 Leu to Phe) associated with arterial and venous thrombosis.

Chowdhury V, Lane DA, Mille B, Auberger K, Gandenberger-Bachem S, Pabinger I, Olds RJ, Thein SL.

Thromb Haemost. 1994 Aug;72(2):198-202. Review.

PMID:
7831651
8.

Report of a novel kindred with antithrombin heparin-binding site variant (47 Arg to His): demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk.

Rossi E, Chiusolo P, Za T, Marietti S, Ciminello A, Leone G, De Stefano V.

Thromb Haemost. 2007 Sep;98(3):695-7. No abstract available. Erratum in: Thromb Haemost. 2007 Oct;98(4):915.

PMID:
17849067
10.

Familial overexpression of beta antithrombin caused by an Asn135Thr substitution.

Bayston TA, Tripodi A, Mannucci PM, Thompson E, Ireland H, Fitches AC, Hananeia L, Olds RJ, Lane DA.

Blood. 1999 Jun 15;93(12):4242-7.

PMID:
10361121
11.

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
12.

Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis.

Picard V, Dautzenberg MD, Villoutreix BO, Orliaguet G, Alhenc-Gelas M, Aiach M.

Blood. 2003 Aug 1;102(3):919-25. Epub 2003 Feb 20.

PMID:
12595305
13.

[Hereditary antithrombin deficiency resulting in severe neonatal thrombosis].

Niklassen US, Ingerslev J, Birkebaek NH.

Ugeskr Laeger. 2000 Nov 6;162(45):6081-2. Danish.

PMID:
11107947
14.

Hemizygous antithrombin-deficiency (Budapest III) in a newborn presenting with a thrombosis at birth.

Kristensen SR, Käehne M, Petersen NE.

Br J Haematol. 2007 Aug;138(3):397-8. Epub 2007 Jun 11. No abstract available.

PMID:
17561971
15.

Arterial thrombosis in homozygous antithrombin deficiency.

Olivieri M, Bidlingmaier C, Schetzeck S, Borggräfe I, Geisen C, Kurnik K.

Hamostaseologie. 2012;32 Suppl 1:S79-82.

PMID:
22961244
16.

Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.

Martínez-Martínez I, Navarro-Fernández J, Østergaard A, Gutiérrez-Gallego R, Padilla J, Bohdan N, Miñano A, Pascual C, Martínez C, de la Morena-Barrio ME, Aguila S, Pedersen S, Kristensen SR, Vicente V, Corral J.

Blood. 2012 Jul 26;120(4):900-4. doi: 10.1182/blood-2012-01-406207. Epub 2012 Apr 12.

PMID:
22498748
17.

[Thrombosis of the pulmonary artery associated with maternal deficiency of antithrombin III].

Martín Montaner MI, Alzina de Aguilar V, Aranda Arrufat A, Cunha Ferreira R, Idiate Gastearena MA, Villa Elízaga I.

An Esp Pediatr. 1987 Feb;26(2):115-7. Spanish.

PMID:
3565951
18.

Antithrombin Nagasaki (Ser 116 to Pro): a rare antithrombin variant with abnormal heparin binding presenting during pregnancy.

O'Ddonnell JS, Hinkson L, McCarthy A, Manning R, Khan A, Laffan MA.

Blood Coagul Fibrinolysis. 2006 Apr;17(3):217-20.

PMID:
16575261
19.

Antithrombins Wibble and Wobble (T85M/K): archetypal conformational diseases with in vivo latent-transition, thrombosis, and heparin activation.

Beauchamp NJ, Pike RN, Daly M, Butler L, Makris M, Dafforn TR, Zhou A, Fitton HL, Preston FE, Peake IR, Carrell RW.

Blood. 1998 Oct 15;92(8):2696-706.

PMID:
9763552
20.

[A novel mutation in antithrombin gene results in hereditary antithrombin deficiency].

Zhang FH, Ding QL, Wu JS, Zhou RF, Wang XF, Xu XC.

Zhonghua Xue Ye Xue Za Zhi. 2006 Sep;27(9):598-601. Chinese.

PMID:
17278425

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