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Items: 1 to 20 of 141

1.

Molecular basis of quantitative fibrinogen disorders in 27 patients from India.

Sumitha E, Jayandharan GR, Arora N, Abraham A, David S, Devi GS, Shenbagapriya P, Nair SC, George B, Mathews V, Chandy M, Viswabandya A, Srivastava A.

Haemophilia. 2013 Jul;19(4):611-8. doi: 10.1111/hae.12143. Epub 2013 Apr 8.

PMID:
23560673
2.

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.

3.

The molecular basis of quantitative fibrinogen disorders.

Asselta R, Duga S, Tenchini ML.

J Thromb Haemost. 2006 Oct;4(10):2115-29. Review.

4.

Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes.

Neerman-Arbez M, de Moerloose P, Honsberger A, Parlier G, Arnuti B, Biron C, Borg JY, Eber S, Meili E, Peter-Salonen K, Ripoll L, Vervel C, d'Oiron R, Staeger P, Antonarakis SE, Morris MA.

Hum Genet. 2001 Mar;108(3):237-40.

PMID:
11354637
5.

Mutational screening of six afibrinogenemic patients: identification and characterization of four novel molecular defects.

Monaldini L, Asselta R, Duga S, Peyvandi F, Karimi M, Malcovati M, Tenchini ML.

Thromb Haemost. 2007 Apr;97(4):546-51.

PMID:
17393016
6.

Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia.

Neerman-Arbez M, de Moerloose P, Bridel C, Honsberger A, Schönbörner A, Rossier C, Peerlinck K, Claeyssens S, Di Michele D, d'Oiron R, Dreyfus M, Laubriat-Bianchin M, Dieval J, Antonarakis SE, Morris MA.

Blood. 2000 Jul 1;96(1):149-52.

7.

FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations.

Casini A, Lukowski S, Quintard VL, Crutu A, Zak M, Regazzoni S, de Moerloose P, Neerman-Arbez M.

Thromb Res. 2014 May;133(5):868-74. doi: 10.1016/j.thromres.2014.01.022. Epub 2014 Jan 25.

PMID:
24560896
8.

A novel fibrinogen mutation (γ Thr277Arg) causes hereditary hypofibrinogenemia in a Chinese family.

Zhu L, Wang M, Xie H, Jin Y, Yang L, Xu P.

Blood Coagul Fibrinolysis. 2013 Sep;24(6):642-4. doi: 10.1097/MBC.0b013e32835facdc.

PMID:
23492915
9.

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
10.

Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.

Asselta R, Robusto M, Braidotti P, Peyvandi F, Nastasio S, D'Antiga L, Perisic VN, Maggiore G, Caccia S, Duga S.

J Thromb Haemost. 2015 Aug;13(8):1459-67. doi: 10.1111/jth.13021. Epub 2015 Jul 14.

PMID:
26039544
11.

Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen Aα and Bβ chain mutations in two Tunisian families.

Amri Y, Toumi Nel H, Hadj Fredj S, de Moerloose P.

Thromb Res. 2016 Jul;143:11-6. doi: 10.1016/j.thromres.2016.04.016. Epub 2016 Apr 27.

PMID:
27164460
12.

Fibrinogen gene mutations accounting for congenital afibrinogenemia.

Neerman-Arbez M.

Ann N Y Acad Sci. 2001;936:496-508. Review.

PMID:
11460507
13.
14.

Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia.

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

Haematologica. 2002 Aug;87(8):855-9.

15.

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.

16.

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation.

Asselta R, Robusto M, Platé M, Santoro C, Peyvandi F, Duga S.

Thromb Res. 2015 Jul;136(1):168-74. doi: 10.1016/j.thromres.2015.05.007. Epub 2015 May 14.

PMID:
26006300
17.

Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion.

Platè M, Asselta R, Spena S, Spreafico M, Fagoonee S, Peyvandi F, Tenchini ML, Duga S.

Blood Cells Mol Dis. 2008 Nov-Dec;41(3):292-7. doi: 10.1016/j.bcmd.2008.06.004. Epub 2008 Aug 3.

PMID:
18676163
18.

Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family.

Neerman-Arbez M, Vu D, Abu-Libdeh B, Bouchardy I, Morris MA.

Blood. 2003 May 1;101(9):3492-4. Epub 2003 Jan 2.

19.

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
20.

Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations.

Castaman G, Rimoldi V, Giacomelli SH, Duga S.

Thromb Res. 2015 Jul;136(1):144-7. doi: 10.1016/j.thromres.2015.04.025. Epub 2015 Apr 25.

PMID:
25981141

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