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Items: 1 to 20 of 282

1.

Genetic analysis of a pedigree with combined factor XII and factor XI deficiency.

Ye X, Feng Y, Ding Q, Dai J, Wang X.

Blood Coagul Fibrinolysis. 2011 Mar;22(2):118-22. doi: 10.1097/MBC.0b013e3283433147.

PMID:
21192253
2.

Molecular genetic analysis of Korean patients with coagulation factor XII deficiency.

Kwon MJ, Kim HJ, Lee KO, Jung CW, Kim SH.

Blood Coagul Fibrinolysis. 2010 Jun;21(4):308-12. doi: 10.1097/MBC.0b013e32833449df.

PMID:
20386432
3.

[FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency].

Wu WM, Ding QL, Wang XF, Fu QH, Wang WB, Dai J, Fang Y, Zhou RF, Xie S, Hu YQ, Sheng ZX, Wang HL, Wang ZY.

Zhonghua Xue Ye Xue Za Zhi. 2004 Mar;25(3):132-5. Chinese.

PMID:
15182578
4.

Novel deleterious mutation in the F12 gene in a Korean family with severe coagulation factor XII deficiency.

Kim HJ, Kim HJ, Kwon EH, Lee KO, Park IA, Kim SH.

Blood Coagul Fibrinolysis. 2010 Oct;21(7):683-6. doi: 10.1097/MBC.0b013e32833e429c.

PMID:
20729721
5.

[Identification of two novel factor XI non-sense mutation Trp228stop and Trp383stop in a Chinese pedigree of congenital factor XI deficiency].

Wu WM, Wang HL, Wang XF, Chu HY, Fu QH, Ding QL, Hu YQ, Shen ZX, Wang ZY.

Zhonghua Xue Ye Xue Za Zhi. 2003 Mar;24(3):126-8. Chinese.

PMID:
12697122
6.

[The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg].

Xie S, Wang HL, Wang XF, Wu WM, Zhou RF, Wang WB, Hu YQ, Wang ZY.

Zhonghua Xue Ye Xue Za Zhi. 2005 Mar;26(3):144-7. Chinese.

PMID:
15946525
7.

[Identification of a novel heterozygous mutation in a pedigree with hereditary coagulation factor XII deficiency].

Yang L, Hao X, Wang Y, Xie H, Jin Y, Zhu L, Wang M.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Jun;32(3):343-7. doi: 10.3760/cma.j.issn.1003-9406.2015.03.009. Chinese.

PMID:
26037346
8.

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.

Guella I, Soldà G, Spena S, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S.

Thromb Haemost. 2008 Mar;99(3):523-30. doi: 10.1160/TH07-12-0723.

PMID:
18327400
9.
10.

A novel mutation (Gln433Glu) in exon 12 combined with the G insertion in exon 13 causes severe factor XI deficiency in Japanese patients.

Ishikawa N, Okada S, Sato T, Yasunaga S, Ohtsubo M, Takihara Y, Kobayashi M.

Blood Coagul Fibrinolysis. 2007 Jul;18(5):519-23.

PMID:
17581330
11.

Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene.

Kwon MJ, Kim HJ, Bang SH, Kim SH.

Blood Coagul Fibrinolysis. 2008 Oct;19(7):679-83. doi: 10.1097/MBC.0b013e32830ef8f9.

PMID:
18832909
12.

[Identification of a novel mutation of factor XII gene in a family with coagulation FXII deficiency].

Xie H, Lv M, Yang X, Zhu L, Yang L, Jin Y, Wang M.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):313-7. doi: 10.3760/cma.j.issn.1003-9406.2013.03.014. Chinese.

PMID:
23744322
13.

A case of factor XI deficiency caused by compound heterozygous F11 gene mutation.

Wang J, Wang X, Dai J, Ding Q, Fu Q, Wang H, Shen L, Li D.

Haemophilia. 2009 Mar;15(2):603-6.

PMID:
19347998
14.

Prospective analysis of factor XI deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families.

Quélin F, Frère C, Pouymayou C, Morange P, de Mazancourt P, Juhan-Vague I.

Blood Coagul Fibrinolysis. 2009 Jan;20(1):84-8. doi: 10.1097/MBC.0b013e32831bc51c.

PMID:
20523169
15.

Identification and characterization of two novel mutations (Q421 K and R123P) in congenital factor XII deficiency.

Kanaji T, Kanaji S, Osaki K, Kuroiwa M, Sakaguchi M, Mihara K, Niho Y, Okamura T.

Thromb Haemost. 2001 Dec;86(6):1409-15.

PMID:
11776307
16.

A novel mutation that leads to a congenital factor XI deficiency in a Japanese family.

Sato E, Kawamata N, Kato A, Oshimi K.

Am J Hematol. 2000 Apr;63(4):165-9.

PMID:
10706758
17.

Two factor XI mutations in a Chinese family with factor XI deficiency.

Au WY, Cheung JW, Lam CC, Kwong YL.

Am J Hematol. 2003 Oct;74(2):136-8.

18.

Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency.

Ishii K, Oguchi S, Moriki T, Yatabe Y, Takeshita E, Murata M, Ikeda Y, Watanabe K.

Blood Coagul Fibrinolysis. 2004 Jul;15(5):367-73.

PMID:
15205584
19.

Genetic study in patients with factor XII deficiency: a report of three new mutations exon 13 (Q501STOP), exon 14 (P547L) and -13C>T promoter region in three compound heterozygotes.

Lombardi AM, Bortoletto E, Scarparo P, Scapin M, Santarossa L, Girolami A.

Blood Coagul Fibrinolysis. 2008 Oct;19(7):639-43. doi: 10.1097/MBC.0b013e32830d8629.

PMID:
18832903
20.

Factor XII Osaka: abnormal factor XII with partially defective prekallikrein cleavage activity.

Iijima K, Arakawa Y, Sugahara Y, Matsushita M, Moriguchi Y, Shimohiro H, Nakagawa M.

Thromb Haemost. 2011 Mar;105(3):473-8. doi: 10.1160/TH10-02-0123. Epub 2011 Jan 25.

PMID:
21264442
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