145 related articles for article (PubMed ID: 22955321)
1. Maternal chromosome 4 heterodisomy/isodisomy and Bβ chain Trp323X mutation resulting in severe hypodysfibrinogenaemia.
Ding Q; Ouyang Q; Xi X; Wang X; Shen Y; Wang H
Thromb Haemost; 2012 Oct; 108(4):654-61. PubMed ID: 22955321
[TBL] [Abstract][Full Text] [Related]
2. Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene.
Spena S; Duga S; Asselta R; Peyvandi F; Mahasandana C; Malcovati M; Tenchini ML
Eur J Hum Genet; 2004 Nov; 12(11):891-8. PubMed ID: 15489905
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 12161363
[TBL] [Abstract][Full Text] [Related]
4. Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.
Cottrell CE; Mendell J; Hart-Kothari M; Ell D; Thrush DL; Astbury C; Pastore M; Gastier-Foster JM; Pyatt RE
Clin Genet; 2012 Jun; 81(6):578-83. PubMed ID: 21480868
[TBL] [Abstract][Full Text] [Related]
5. Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22.
Huang YH; Tai CL; Lu YH; Wu TJ; Chen HD; Niu DM
Blood Cells Mol Dis; 2012 Aug; 49(2):114-7. PubMed ID: 22658170
[TBL] [Abstract][Full Text] [Related]
6. Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.
Sasaki K; Okamoto N; Kosaki K; Yorifuji T; Shimokawa O; Mishima H; Yoshiura KI; Harada N
Clin Genet; 2011 Nov; 80(5):478-83. PubMed ID: 21166787
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. A novel fibrinogen Bbeta chain frameshift mutation in a patient with severe congenital hypofibrinogenaemia.
Xu X; Wu J; Zhai Z; Zhou R; Wang X; Wang H; Ding K; Sun Z; Ni H
Thromb Haemost; 2006 Jun; 95(6):931-5. PubMed ID: 16732370
[TBL] [Abstract][Full Text] [Related]
9. A novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia.
Marchi R; Brennan S; Meyer M; Rojas H; Kanzler D; De Agrela M; Ruiz-Saez A
Blood Cells Mol Dis; 2013 Mar; 50(3):177-81. PubMed ID: 23266225
[TBL] [Abstract][Full Text] [Related]
10. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.
Ginsburg C; Fokstuen S; Schinzel A
Am J Med Genet; 2000 Dec; 95(5):454-60. PubMed ID: 11146466
[TBL] [Abstract][Full Text] [Related]
11. A case of congenital afibrinogenemia: fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene.
Iida H; Ishii E; Nakahara M; Urata M; Wakiyama M; Kurihara M; Watanabe K; Kai T; Ihara K; Kinoshita S; Hamasaki N
Thromb Haemost; 2000 Jul; 84(1):49-53. PubMed ID: 10928469
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
Malvagia S; Papi L; Morrone A; Donati MA; Ciani F; Pasquini E; la Marca G; Scholte HR; Genuardi M; Zammarchi E
Ann Hum Genet; 2007 Nov; 71(Pt 6):705-12. PubMed ID: 17535268
[TBL] [Abstract][Full Text] [Related]
14. Afibrinogenemia resulting from homozygous nonsense mutation in A alpha chain gene associated with multiple thrombotic episodes.
Simsek I; de Mazancourt P; Horellou MH; Erdem H; Pay S; Dinc A; Samama MM
Blood Coagul Fibrinolysis; 2008 Apr; 19(3):247-53. PubMed ID: 18388508
[TBL] [Abstract][Full Text] [Related]
15. [Congenital afibrinogenemia caused by a novel insertion mutation in the FGB gene].
Zhang J; Zhao XJ; Wang ZY; Yu ZQ; Cao LJ; Ma ZN; Zhang J; Zhang W; Bai X; Ruan CG
Zhonghua Xue Ye Xue Za Zhi; 2013 Sep; 34(9):751-6. PubMed ID: 24103871
[TBL] [Abstract][Full Text] [Related]
16. Molecular basis of congenital afibrinogenaemia in a Dutch family.
Remijn JA; van Wijk R; Nieuwenhuis HK; de Groot PG; van Solinge WW
Blood Coagul Fibrinolysis; 2003 Apr; 14(3):299-302. PubMed ID: 12695755
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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. PubMed ID: 25981141
[TBL] [Abstract][Full Text] [Related]
19. [Congenital afibrinogenemia associated with a novel nonsense mutation in the FGA gene].
Wu SY; Wang ZY; Dong NZ; Bai X; Ruan CG
Zhonghua Xue Ye Xue Za Zhi; 2005 Mar; 26(3):133-6. PubMed ID: 15946522
[TBL] [Abstract][Full Text] [Related]
20. [Fibrinogen beta chain gene mutation contributes to one congenital afibrinogenemia].
Xu XC; Zhou RF; Wu JS; Fang Y; Wang XF; Zhai ZM; Wang HL
Zhonghua Xue Ye Xue Za Zhi; 2005 Mar; 26(3):137-9. PubMed ID: 15946523
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]