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Items: 1 to 20 of 467

1.

Two cases of congenital dysfibrinogenemia associated with thrombosis - Fibrinogen Praha III and Fibrinogen Plzen.

Kotlín R, Reicheltová Z, Malý M, Suttnar J, Sobotková A, Salaj P, Hirmerová J, Riedel T, Dyr JE.

Thromb Haemost. 2009 Sep;102(3):479-86. doi: 10.1160/TH08-11-0771.

PMID:
19718467
2.

Two novel mutations in the fibrinogen γ nodule.

Kotlín R, Pastva O, Stikarová J, Hlaváčková A, Suttnar J, Chrastinová L, Riedel T, Salaj P, Dyr JE.

Thromb Res. 2014 Oct;134(4):901-8. doi: 10.1016/j.thromres.2014.07.021. Epub 2014 Jul 21.

PMID:
25074738
3.

Fibrinogen Nový Jicín and Praha II: cases of hereditary Aalpha 16 Arg-->Cys and Aalpha 16 Arg-->His dysfibrinogenemia.

Kotlín R, Chytilová M, Suttnar J, Riedel T, Salaj P, Blatný J, Santrůcek J, Klener P, Dyr JE.

Thromb Res. 2007;121(1):75-84. Epub 2007 Apr 3.

PMID:
17408725
5.

Two novel fibrinogen variants in the C-terminus of the Bβ-chain: fibrinogen Rokycany and fibrinogen Znojmo.

Kotlín R, Reicheltová Z, Suttnar J, Salaj P, Hrachovinová I, Riedel T, Malý M, Oravec M, Kvasnicka J, Dyr JE.

J Thromb Thrombolysis. 2010 Oct;30(3):311-8. doi: 10.1007/s11239-010-0505-1.

PMID:
20640913
6.

A novel natural mutation AαPhe98Ile in the fibrinogen coiled-coil affects fibrinogen function.

Riedelová-Reicheltová Z, Kotlín R, Suttnar J, Geierová V, Riedel T, Májek P, Dyr JE.

Thromb Haemost. 2014 Jan;111(1):79-87. doi: 10.1160/TH13-04-0267. Epub 2013 Oct 10.

PMID:
24108601
7.

The fibrinogen Aalpha R16C mutation results in fibrinolytic resistance.

Flood VH, Al-Mondhiry HA, Farrell DH.

Br J Haematol. 2006 Jul;134(2):220-6.

PMID:
16846481
9.

Fibrinogen Alès: a homozygous case of dysfibrinogenemia (gamma-Asp(330)-->Val) characterized by a defective fibrin polymerization site "a".

Lounes KC, Soria C, Mirshahi SS, Desvignes P, Mirshahi M, Bertrand O, Bonnet P, Koopman J, Soria J.

Blood. 2000 Nov 15;96(10):3473-9.

10.

Dusart Syndrome in a Scandinavian family characterized by arterial and venous thrombosis at young age.

Ramanathan R, Gram J, Feddersen S, Nybo M, Larsen A, Sidelmann JJ.

Scand J Clin Lab Invest. 2013 Oct;73(7):585-90. doi: 10.3109/00365513.2013.826818. Epub 2013 Sep 3.

PMID:
24000886
11.

Fibrinogen Šumperk II: dysfibrinogenemia in an individual with two coding mutations.

Kotlín R, Suttnar J, Cápová I, Hrachovinová I, Urbánková M, Dyr JE.

Am J Hematol. 2012 May;87(5):555-7. doi: 10.1002/ajh.23162. Epub 2012 Mar 9.

12.

Fibrinogen Caracas V, an abnormal fibrinogen with an Aalpha 532 Ser-->Cys substitution associated with thrombosis.

Marchi R, Lundberg U, Grimbergen J, Koopman J, Torres A, de Bosch NB, Haverkate F, Arocha Piñango CL.

Thromb Haemost. 2000 Aug;84(2):263-70.

PMID:
10959699
13.

Functional characterization of fibrinogen Bicêtre II: a gamma 308 Asn-->Lys mutation located near the fibrin D:D interaction sites.

Marchi RC, Carvajal Z, Boyer-Neumann C, Anglés-Cano E, Weisel JW.

Blood Coagul Fibrinolysis. 2006 Apr;17(3):193-201.

PMID:
16575257
14.

Fibrinogen Saint-Germain I: a case of the heterozygous Aalpha GLY 12 --> VAL fibrinogen variant.

Mathonnet F, Peltier JY, Detruit H, de Raucourt E, Alvarez JC, Mazmanian GM, de Mazancourt P.

Blood Coagul Fibrinolysis. 2002 Mar;13(2):149-53.

PMID:
11914657
15.

Hypofibrinogenemia caused by a nonsense mutation in the fibrinogen Bbeta chain gene.

Mimuro J, Hamano A, Tanaka T, Madoiwa KS, Sugo T, Matsuda M, Sakata Y.

J Thromb Haemost. 2003 Nov;1(11):2356-9.

16.

Fibrinogen bellingham: a gamma-chain R275C substitution and a beta-promoter polymorphism in a thrombotic member of an asymptomatic family.

Linenberger ML, Kindelan J, Bennett RL, Reiner AP, Côté HC.

Am J Hematol. 2000 Aug;64(4):242-50.

PMID:
10911375
17.

A novel fibrinogen variant--Liberec: dysfibrinogenaemia associated with gamma Tyr262Cys substitution.

Kotlín R, Sobotková A, Suttnar J, Salaj P, Walterová L, Riedel T, Reicheltová Z, Dyr JE.

Eur J Haematol. 2008 Aug;81(2):123-9. doi: 10.1111/j.1600-0609.2008.01094.x. Epub 2008 May 11.

PMID:
18485115
18.

Three cases of congenital dysfibrinogenemia in unrelated Chinese families: heterozygous missense mutation in fibrinogen alpha chain Argl6His.

Luo M, Deng D, Xiang L, Cheng P, Liao L, Deng X, Yan J, Lin F.

Medicine (Baltimore). 2016 Sep;95(39):e4864. doi: 10.1097/MD.0000000000004864.

19.

Partial deletion of the αC-domain in the Fibrinogen Perth variant is associated with thrombosis, increased clot strength and delayed fibrinolysis.

Westbury SK, Duval C, Philippou H, Brown R, Lee KR, Murden SL, Phillips E, Reilly-Stitt C, Whalley D, Ariëns RA, Mumford AD.

Thromb Haemost. 2013 Dec;110(6):1135-44. doi: 10.1160/TH13-05-0408. Epub 2013 Sep 19.

PMID:
24048413
20.

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