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Results: 1 to 20 of 267

Related Citations for PubMed (Select 14695539)

1.

Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency.

Peyvandi F, Tagliabue L, Menegatti M, Karimi M, Komáromi I, Katona E, Muszbek L, Mannucci PM.

Hum Mutat. 2004 Jan;23(1):98.

PMID:
14695539
2.

Phenotype-genotype correlation in eight Polish patients with inherited Factor XIII deficiency: identification of three novel mutations.

Ivaskevicius V, Windyga J, Baran B, Schroeder V, Junen J, Bykowska K, Seifried E, Kohler HP, Oldenburg J.

Haemophilia. 2007 Sep;13(5):649-57.

PMID:
17880458
3.

Molecular characterization of five Italian families with inherited severe factor XIII deficiency.

Castaman G, Giacomelli SH, Ivaskevicius V, Schroeder V, Kohler HP, Dragani A, Biasioli C, Oldenburg J, Madeo D, Rodeghiero F.

Haemophilia. 2008 Jan;14(1):96-102. Epub 2007 Nov 20.

PMID:
18028394
4.

Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit.

Mikkola H, Yee VC, Syrjälä M, Seitz R, Egbring R, Petrini P, Ljung R, Ingerslev J, Teller DC, Peltonen L, Palotie A.

Blood. 1996 Jan 1;87(1):141-51.

5.

Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency.

Gómez García EB, Poort SR, Stibbe J, Sturk A, Schaap MC, Kappers M, Bertina RM.

Br J Haematol. 2001 Feb;112(2):513-8.

PMID:
11167856
6.

Mutations in coagulation factor XIII A gene in eight unrelated Indians. Five novel mutations identified by a novel PCR-CSGE approach.

Jayandharan GR, Viswabandya A, Baidya S, Nair SC, George B, Mathews V, Chandy M, Srivastava A.

Thromb Haemost. 2006 Mar;95(3):551-6.

PMID:
16525586
7.

Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations.

Borhany M, Handrkova H, Cairo A, Schroeder V, Fatima N, Naz A, Amanat S, Shamsi T, Peyvandi F, Kohler HP.

Haemophilia. 2014 Jul;20(4):568-74. doi: 10.1111/hae.12340. Epub 2013 Dec 16.

PMID:
24329762
8.

Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families.

Vysokovsky A, Saxena R, Landau M, Zivelin A, Eskaraev R, Rosenberg N, Seligsohn U, Inbal A.

J Thromb Haemost. 2004 Oct;2(10):1790-7.

PMID:
15456491
9.

Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA.

Mikkola H, Muszbek L, Laiho E, Syrjälä M, Hämäläinen E, Haramura G, Salmi T, Peltonen L, Palotie A.

Blood. 1997 Feb 15;89(4):1279-87.

10.

Congenital deficiency of factor XIII caused by two missense mutations in a Dutch family.

Onland W, Böing AN, Meijer AB, Schaap MC, Nieuwland R, Haasnoot K, Sturk A, Peters M.

Haemophilia. 2005 Sep;11(5):539-47.

PMID:
16128900
11.

Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels.

Mikkola H, Syrjälä M, Rasi V, Vahtera E, Hämäläinen E, Peltonen L, Palotie A.

Blood. 1994 Jul 15;84(2):517-25.

12.

Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a genetic study in 14 families with factor XIII B deficiency.

Ivaskevicius V, Biswas A, Loreth R, Schroeder V, Ohlenforst S, Rott H, Krause M, Kohler HP, Scharrer I, Oldenburg J.

Haemophilia. 2010 Jul 1;16(4):675-82. doi: 10.1111/j.1365-2516.2010.02207.x. Epub 2010 Mar 10.

PMID:
20331752
13.

Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in the F13A gene; diagnosis and classification according to the ISTH/SSC guidelines.

Souri M, Biswas A, Misawa M, Omura H, Ichinose A.

Haemophilia. 2014 Mar;20(2):255-62. doi: 10.1111/hae.12298. Epub 2013 Nov 29.

PMID:
24286209
14.

Arg77His and Trp187Arg are the most common mutations causing FXIII deficiency in Iran.

Eshghi P, Cohan N, Lak M, Naderi M, Peyvandi F, Menegatti M, Karimi M.

Clin Appl Thromb Hemost. 2012 Jan-Feb;18(1):100-3. doi: 10.1177/1076029611412363. Epub 2011 Dec 6. Review.

PMID:
22156982
15.

Factor XIII Deficiency.

Karimi M, Bereczky Z, Cohan N, Muszbek L.

Semin Thromb Hemost. 2009 Jun;35(4):426-38. doi: 10.1055/s-0029-1225765. Epub 2009 Jul 13. Review.

PMID:
19598071
16.

Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations.

Katona É, Muszbek L, Devreese K, Kovács KB, Bereczky Z, Jonkers M, Shemirani AH, Mondelaers V, Ermens AA.

Haemophilia. 2014 Jan;20(1):114-20. doi: 10.1111/hae.12267. Epub 2013 Oct 1.

PMID:
24118344
17.

Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene.

Anwar R, Gallivan L, Richards M, Khair K, Wright M, Minford A.

Haematologica. 2005 Dec;90(12):1718-20.

18.

Identification of a new mutation (Gly420Ser), distal to the active site, that leads to factor XIII deficiency.

Kangsadalampai S, Yenchitsomanus P, Chelvanayagam G, Sawasdee N, Laosombat V, Board P.

Eur J Haematol. 2000 Oct;65(4):279-84.

PMID:
11073170
19.

Molecular modeling predicts structural changes in the A subunit of factor XIII caused by two novel mutations identified in a neonate with severe congenital factor XIII deficiency.

Souri M, Yee VC, Fujii N, Ichinose A.

Thromb Res. 2012 Sep;130(3):506-10. doi: 10.1016/j.thromres.2012.05.003. Epub 2012 May 25.

PMID:
22633530
20.

Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins.

Mikkola H, Muszbek L, Haramura G, Hämäläinen E, Jalanko A, Palotie A.

Thromb Haemost. 1997 Jun;77(6):1068-72.

PMID:
9241733
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