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Items: 1 to 20 of 132

1.

A common F13A1 intron 1 variant IVS1+12(A) is associated with mild FXIII deficiency in Caucasian population.

Ivaskevicius V, Biswas A, Thomas A, Lyonga S, Rott H, Halimeh S, Kappert G, Klammroth R, Scholz U, Eberl W, Harbrecht U, Gnida C, Hertfelder HJ, Marquardt N, Oldenburg J.

Ann Hematol. 2013 Jul;92(7):975-9. doi: 10.1007/s00277-013-1724-2. Epub 2013 Mar 19.

PMID:
23508224
2.

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
3.

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
4.

Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency.

Jang MA, Park YS, Lee KO, Kim HJ.

Blood Coagul Fibrinolysis. 2015 Jan;26(1):46-9. doi: 10.1097/MBC.0000000000000171.

PMID:
25004025
5.

Coagulation factor XIII deficiency. Diagnosis, prevalence and management of inherited and acquired forms.

Biswas A, Ivaskevicius V, Thomas A, Oldenburg J.

Hamostaseologie. 2014;34(2):160-6. doi: 10.5482/HAMO-13-08-0046. Epub 2014 Feb 7. Review.

PMID:
24503678
6.

Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations.

Shanbhag S, Ghosh K, Shetty S.

Blood Cells Mol Dis. 2016 Mar;57:81-4. doi: 10.1016/j.bcmd.2016.01.002. Epub 2016 Jan 13.

PMID:
26852661
7.

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.

8.

Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function.

Biswas A, Ivaskevicius V, Thomas A, Varvenne M, Brand B, Rott H, Haussels I, Ruehl H, Scholz U, Klamroth R, Oldenburg J.

Ann Hematol. 2014 Oct;93(10):1665-76. doi: 10.1007/s00277-014-2102-4. Epub 2014 Jun 3.

PMID:
24889649
9.

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
10.

[Identification of genetic defects in a Chinese pedigree with factor XIII deficiency: case report and literature review].

Xu G, Liang Q, Zhang L, Shen Y, Ding Q, Wang X, Wang H.

Zhonghua Xue Ye Xue Za Zhi. 2015 Oct;36(10):844-8. doi: 10.3760/cma.j.issn.0253-2727.2015.10.008. Review. Chinese.

PMID:
26477763
11.

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
12.

Factor XIII V34L polymorphism modulates the risk of chronic venous leg ulcer progression and extension.

Gemmati D, Tognazzo S, Serino ML, Fogato L, Carandina S, De Palma M, Izzo M, De Mattei M, Ongaro A, Scapoli GL, Caruso A, Liboni A, Zamboni P.

Wound Repair Regen. 2004 Sep-Oct;12(5):512-7.

PMID:
15453833
13.

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
14.

Neoplasm-induced bleeding in inherited, heterozygous FXIII-A deficiency.

Ivaškevičius V, Goldmann G, Biswas A, Westhofen P, Thomas A, Marquardt N, Horneff S, Klein C, Rühl H, Pötzsch B, Oldenburg J.

Hamostaseologie. 2015;35 Suppl 1:S32-5.

PMID:
26540128
15.

[Identification of Arg77Cys and Arg174stop double heterozygous mutation in a Chinese family with inherited FXIII deficiency].

Zheng WD, Liu YH, He QY, Chen ZH, Fan XB, Liu HF.

Zhonghua Xue Ye Xue Za Zhi. 2009 Mar;30(3):158-61. Chinese.

PMID:
19642362
16.

Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.

Ivaskevicius V, Biswas A, Bevans C, Schroeder V, Kohler HP, Rott H, Halimeh S, Petrides PE, Lenk H, Krause M, Miterski B, Harbrecht U, Oldenburg J.

Haematologica. 2010 Jun;95(6):956-62. doi: 10.3324/haematol.2009.017210. Epub 2010 Feb 23.

17.

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
18.

Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency.

Wang W, Huang L, Ma Q, Xiao D, Chen X, Yang Z, Wang X, Zhou K, Li G, Xiao M, Du G, Hao X, Cai W.

J Hum Genet. 2011 Jun;56(6):460-3. doi: 10.1038/jhg.2011.41. Epub 2011 Apr 21.

PMID:
21512576
19.

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
20.

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

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