136 related articles for article (PubMed ID: 19551918)
1. Recurrence of the 'deep-intronic' FGG IVS6-320A>T mutation causing quantitative fibrinogen deficiency in the Italian population of Veneto.
Platè M; Duga S; Castaman G; Rodeghiero F; Asselta R
Blood Coagul Fibrinolysis; 2009 Jul; 20(5):381-4. PubMed ID: 19551918
[TBL] [Abstract][Full Text] [Related]
2. Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia.
Spena S; Asselta R; Platé M; Castaman G; Duga S; Tenchini ML
Br J Haematol; 2007 Oct; 139(1):128-32. PubMed ID: 17854317
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 26039544
[TBL] [Abstract][Full Text] [Related]
4. Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders.
Simurda T; Zolkova J; Snahnicanova Z; Loderer D; Skornova I; Sokol J; Hudecek J; Stasko J; Lasabova Z; Kubisz P
Int J Mol Sci; 2017 Dec; 19(1):. PubMed ID: 29286337
[TBL] [Abstract][Full Text] [Related]
5. A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream.
Robert-Ebadi H; de Moerloose P; El Khorassani M; El Khattab M; Neerman-Arbez M
Blood Coagul Fibrinolysis; 2009 Jul; 20(5):385-7. PubMed ID: 19417632
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 27164460
[TBL] [Abstract][Full Text] [Related]
7. Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A.
Mukai S; Nagata K; Ikeda M; Arai S; Sugano M; Honda T; Okumura N
Thromb Res; 2016 Dec; 148():111-117. PubMed ID: 27837696
[TBL] [Abstract][Full Text] [Related]
8. 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; 41(3):292-7. PubMed ID: 18676163
[TBL] [Abstract][Full Text] [Related]
9. Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations.
Wypasek E; Klukowska A; Zdziarska J; Zawilska K; Treliński J; Iwaniec T; Mital A; Pietrys D; Sydor W; Neerman-Arbez M; Undas A
Thromb Res; 2019 Oct; 182():133-140. PubMed ID: 31479941
[TBL] [Abstract][Full Text] [Related]
10. Diagnosis of congenital fibrinogen disorders.
Lebreton A; Casini A
Ann Biol Clin (Paris); 2016 Aug; 74(4):405-12. PubMed ID: 27492693
[TBL] [Abstract][Full Text] [Related]
11. [Mutation analysis of a FGG gene causing hereditary abnormal fibrinogen].
Jiang L; Zhang Q; Xu W; Zhang Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec; 35(6):812-814. PubMed ID: 30512152
[TBL] [Abstract][Full Text] [Related]
12. 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; 100(13):4478-84. PubMed ID: 12393540
[TBL] [Abstract][Full Text] [Related]
13. Novel fibrinogen mutation (gamma 313 Ser-->Asn) associated with hypofibrinogenemia in two unrelated families.
Meyer M; Bergmann F; Brennan SO
Blood Coagul Fibrinolysis; 2006 Jan; 17(1):63-7. PubMed ID: 16607083
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 11354637
[TBL] [Abstract][Full Text] [Related]
15. Characterisation of a novel nonsense mutation in FGG (Fibrinogen Poznan) causing hypofibrinogenaemia with a mild bleeding tendency.
Zawilska K; Undas A; Fish RJ; Molendowicz-Portala L; De Moerloose P; Neerman-Arbez M
Thromb Haemost; 2010 Mar; 103(3):677-9. PubMed ID: 20135062
[No Abstract] [Full Text] [Related]
16. Nonsense-mediated mRNA decay was demonstrated in two hypofibrinogenemias caused by heterozygous nonsense mutations of FGG, Shizuoka III and Kanazawa II.
Soya K; Takezawa Y; Okumura N; Terasawa F
Thromb Res; 2013 Oct; 132(4):465-70. PubMed ID: 24011387
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 18393984
[No Abstract] [Full Text] [Related]
18. In vitro transcription of compound heterozygous hypofibrinogenemia Matsumoto IX; first identification of FGB IVS6 deletion of 4 nucleotides and FGG IVS3-2A>G causing abnormal RNA splicing.
Terasawa F; Kamijyo Y; Fujihara N; Yamauchi K; Kumagai T; Honda T; Shigematsu S; Okumura N
Clin Chim Acta; 2010 Sep; 411(17-18):1325-9. PubMed ID: 20580695
[TBL] [Abstract][Full Text] [Related]
19. Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.
Paraboschi EM; Duga S; Asselta R
Int J Mol Sci; 2017 Dec; 18(12):. PubMed ID: 29240685
[TBL] [Abstract][Full Text] [Related]
20. Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient.
Platé M; Asselta R; Peyvandi F; Tenchini ML; Duga S
Biochim Biophys Acta; 2007 Jul; 1772(7):781-7. PubMed ID: 17531448
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
