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Results: 1 to 20 of 105

1.

Identification of two novel mutations in non-Jewish factor XI deficiency.

Imanaka Y, Lal K, Nishimura T, Bolton-Maggs PH, Tuddenham EG, McVey JH.

Br J Haematol. 1995 Aug;90(4):916-20.

PMID:
7669672
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation.

Quélin F, Trossaërt M, Sigaud M, Mazancourt PD, Fressinaud E.

J Thromb Haemost. 2004 Jan;2(1):71-6.

PMID:
14717969
[PubMed - indexed for MEDLINE]
4.

A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency.

Bolton-Maggs PH, Peretz H, Butler R, Mountford R, Keeney S, Zacharski L, Zivelin A, Seligsohn U.

J Thromb Haemost. 2004 Jun;2(6):918-24.

PMID:
15140127
[PubMed - indexed for MEDLINE]
5.

Identification of a novel mutation in a non-Jewish factor XI deficient kindred.

Alhaq A, Mitchell M, Sethi M, Rahman S, Flynn G, Boulton P, Caeno G, Smith M, Savidge G.

Br J Haematol. 1999 Jan;104(1):44-9.

PMID:
10027710
[PubMed - indexed for MEDLINE]
6.

[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
[PubMed - indexed for MEDLINE]
7.

Characterisation of blood coagulation factor XI T475I.

McVey JH, Lal K, Imanaka Y, Kemball-Cook G, Bolton-Maggs PH, Tuddenham EG.

Thromb Haemost. 2005 Jun;93(6):1082-8.

PMID:
15968392
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

[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
[PubMed - indexed for MEDLINE]
11.

Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.

Quélin F, Mathonnet F, Potentini-Esnault C, Trigui N, Peynet J, Bastenaire B, Guillon L, Bigel ML, Sauger A, Mazurier C, de Mazancourt P.

Blood Coagul Fibrinolysis. 2006 Jan;17(1):69-73.

PMID:
16607084
[PubMed - indexed for MEDLINE]
12.

Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency.

Saunders RE, Shiltagh N, Gomez K, Mellars G, Cooper C, Perry DJ, Tuddenham EG, Perkins SJ.

Thromb Haemost. 2009 Aug;102(2):287-301. doi: 10.1160/TH09-01-0044.

PMID:
19652879
[PubMed - indexed for MEDLINE]
13.

[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
[PubMed - indexed for MEDLINE]
14.

Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families.

Ventura C, Santos AI, Tavares A, Gago T, Lavinha J, McVey JH, David D.

Thromb Haemost. 2000 Nov;84(5):833-40.

PMID:
11127865
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Coagulation factor XI gene analysis in three factor XI deficient Austrian patients.

Dossenbach-Glaninger A, Hopmeier P.

Eur J Haematol. 2006 Apr;76(4):317-21.

PMID:
16519703
[PubMed - indexed for MEDLINE]
18.

Three dominant-negative mutations in factor XI-deficient patients.

Dai L, Rangarajan S, Mitchell M.

Haemophilia. 2011 Sep;17(5):e919-22. doi: 10.1111/j.1365-2516.2011.02519.x. Epub 2011 Apr 3.

PMID:
21457405
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

Factor XI deficiency in Southern Iran: identification of a novel missense mutation.

Karimi M, Jafari H, Lahsaeizadeh S, Afrasiabi A, Akbari A, Dehbozorgian J, Ardeshiri R, Guella I, Asselta R, Peyvandi F.

Ann Hematol. 2009 Apr;88(4):359-63. doi: 10.1007/s00277-008-0595-4. Epub 2008 Aug 29.

PMID:
18758779
[PubMed - indexed for MEDLINE]

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