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Items: 1 to 20 of 149

1.

Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'.

Vorjohann S, Fish RJ, Biron-Andréani C, Nagaswami C, Weisel JW, Boulot P, Reyftmann L, de Moerloose P, Neerman-Arbez M.

Thromb Haemost. 2010 Nov;104(5):990-7. doi: 10.1160/TH10-03-0161. Epub 2010 Aug 30. Erratum in: Thromb Haemost. 2011 Feb 1;105(2):386.

2.

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency.

Asselta R, Platè M, Robusto M, Borhany M, Guella I, Soldà G, Afrasiabi A, Menegatti M, Shamsi T, Peyvandi F, Duga S.

Thromb Haemost. 2015 Mar;113(3):567-76. doi: 10.1160/TH14-07-0629. Epub 2014 Nov 27.

PMID:
25427968
3.

Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion.

Vu D, de Moerloose P, Batorova A, Lazur J, Palumbo L, Neerman-Arbez M.

J Med Genet. 2005 Sep;42(9):e57.

4.

Fibrinopeptide A release is necessary for effective B:b interactions in polymerisation of variant fibrinogens with impaired A:a interactions.

Soya K, Terasawa F, Okumura N.

Thromb Haemost. 2013 Feb;109(2):221-8. doi: 10.1160/TH12-09-0684. Epub 2012 Dec 13.

PMID:
23238100
5.

Fibrinogen residue γAla341 is necessary for calcium binding and 'A-a' interactions.

Park R, Ping L, Song J, Hong SY, Choi TY, Choi JR, Gorkun OV, Lord ST.

Thromb Haemost. 2012 May;107(5):875-83. doi: 10.1160/TH11-10-0731. Epub 2012 Mar 22.

PMID:
22437918
6.

A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenaemia.

Fujihara N, Haneishi A, Yamauchi K, Terasawa F, Ito T, Ishida F, Okumura N.

Thromb Haemost. 2010 Aug;104(2):213-23. doi: 10.1160/TH09-08-0540. Epub 2010 Jun 29.

PMID:
20589319
7.

A novel fibrinogen B beta chain frameshift mutation causes congenital afibrinogenaemia.

Zhang J, Zhao X, Wang Z, Yu Z, Cao L, Zhang W, Bai X, Ruan C.

Thromb Haemost. 2013 Jul;110(1):76-82. doi: 10.1160/TH12-12-0934. Epub 2013 Jun 6.

PMID:
23740095
8.
9.

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
10.

Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites.

Spena S, Duga S, Asselta R, Malcovati M, Peyvandi F, Tenchini ML.

Blood. 2002 Dec 15;100(13):4478-84. Epub 2002 Aug 1.

11.

Recombinant γT305A fibrinogen indicates severely impaired fibrin polymerization due to the aberrant function of hole 'A' and calcium binding sites.

Ikeda M, Kobayashi T, Arai S, Mukai S, Takezawa Y, Terasawa F, Okumura N.

Thromb Res. 2014 Aug;134(2):518-25. doi: 10.1016/j.thromres.2014.06.002. Epub 2014 Jun 11.

PMID:
24968960
12.

Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients.

Abdel Wahab M, de Moerloose P, Fish RJ, Neerman-Arbez M.

Blood Coagul Fibrinolysis. 2010 Mar;21(2):164-7. doi: 10.1097/MBC.0b013e32833678d5.

PMID:
20051841
13.

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.

14.

Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion.

Vu D, Bolton-Maggs PH, Parr JR, Morris MA, de Moerloose P, Neerman-Arbez M.

Blood. 2003 Dec 15;102(13):4413-5. Epub 2003 Jul 31.

15.
16.

Functional characterisation of plasma fibrin clots in Polish carriers of fibrinogen gammaArg275His mutation (fibrinogen Zabrze).

Undas A, Pastuszczak M, Iwaniec T, Kapelak K, Neerman-Arbez M.

Thromb Haemost. 2010 Aug;104(2):415-7. doi: 10.1160/TH10-02-0114. Epub 2010 May 27. No abstract available.

PMID:
20508898
17.

Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations.

Castaman G, Giacomelli SH, Duga S, Rodeghiero F.

Haemophilia. 2008 May;14(3):630-3. doi: 10.1111/j.1365-2516.2008.01692.x. Epub 2008 Apr 3. No abstract available.

PMID:
18393984
18.

A novel nonsense mutation in the FGA gene in a Chinese family with congenital afibrinogenaemia.

Wu S, Wang Z, Dong N, Bai X, Ruan C.

Blood Coagul Fibrinolysis. 2005 Apr;16(3):221-6.

PMID:
15795544
19.

Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia.

Tirefort Y, Alson OR, de Moerloose P, Neerman-Arbez M.

Blood Coagul Fibrinolysis. 2012 Sep;23(6):556-8. doi: 10.1097/MBC.0b013e328355a76e.

PMID:
22732251
20.

B:b interactions are essential for polymerization of variant fibrinogens with impaired holes 'a'.

Okumura N, Terasawa F, Haneishi A, Fujihara N, Hirota-Kawadobora M, Yamauchi K, Ota H, Lord ST.

J Thromb Haemost. 2007 Dec;5(12):2352-9. Epub 2007 Oct 8.

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