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Items: 1 to 20 of 100

1.

Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation.

Kılıç SÇ, İçağasıoğlu FD, Güven AS, Berber E.

Blood Transfus. 2014 Jul;12(3):446-8. doi: 10.2450/2014.0022-14. No abstract available.

2.

Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency.

Tirefort Y, Uhr MR, Neerman-Arbez M, de Moerloose P.

Blood Coagul Fibrinolysis. 2012 Apr;23(3):251-2. doi: 10.1097/MBC.0b013e32834ea02a.

PMID:
22322133
3.

Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K).

Quélin F, François D, d'Oiron R, Guillet B, de Raucourt E, de Mazancourt P.

Haematologica. 2005 Aug;90(8):1149-50.

4.

A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.

Lee JH, Cho HS, Hyun MS, Kim HY, Kim HJ.

Korean J Lab Med. 2011 Oct;31(4):290-3. doi: 10.3343/kjlm.2011.31.4.290. Epub 2011 Oct 3.

5.

Characterisation of five factor XI mutations.

Mitchell MJ, Dai L, Clarke JB, Bolton-Maggs PH, Savidge GF, Alhaq A.

Thromb Haemost. 2007 Jun;97(6):884-9.

PMID:
17549289
6.

Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.

Zivelin A, Bauduer F, Ducout L, Peretz H, Rosenberg N, Yatuv R, Seligsohn U.

Blood. 2002 Apr 1;99(7):2448-54.

7.

[Factor XI deficiency caused by a mutation of Gly400Val].

Sato T, Iyama S, Araki N, Murase K, Sato Y, Kobune M, Takimoto R, Matsunaga T, Kato J, Kuroda H, Niitsu Y.

Rinsho Ketsueki. 2007 Feb;48(2):148-50. Japanese.

PMID:
17370644
8.

The F11 rs2289252 polymorphism is associated with FXI activity levels and APTT ratio in women with thrombosis.

Lunghi B, Cini M, Legnani C, Bernardi F, Marchetti G.

Thromb Res. 2012 Sep;130(3):563-4. doi: 10.1016/j.thromres.2012.05.004. Epub 2012 May 25. No abstract available.

PMID:
22633531
9.

[Investigation into a family with factor XI deficiency and Willebrand-Jürgens syndrome].

Plendl H, Grote W.

Med Welt. 1979 Aug 24;30(34):1244-8. German. No abstract available.

PMID:
315024
10.

A novel heterozygous missense mutation (His127Arg) in a family with inherited cross-reacting material positive factor XI deficiency.

Castaman G, Giacomelli SH, Tagliaferri A, Rodeghiero F.

Blood Coagul Fibrinolysis. 2013 Sep;24(6):670-2. doi: 10.1097/MBC.0b013e3283601c2d.

PMID:
23571684
11.

Factor XI deficiency in Ashkenazi Jews in Israel.

Asakai R, Chung DW, Davie EW, Seligsohn U.

N Engl J Med. 1991 Jul 18;325(3):153-8.

12.

The spectrum of factor XI deficiency in Italy.

Castaman G, Giacomelli SH, Caccia S, Riccardi F, Rossetti G, Dragani A, Giuffrida AC, Biasoli C, Duga S.

Haemophilia. 2014 Jan;20(1):106-13. doi: 10.1111/hae.12257. Epub 2013 Sep 24.

PMID:
24112640
13.

Pulmonary embolism with factor XI deficiency.

Brodsky JB, Burgess GE 3rd.

JAMA. 1975 Dec 15;234(11):1156-7.

PMID:
1242430
14.

Congenital factor XI deficiency: an update.

Duga S, Salomon O.

Semin Thromb Hemost. 2013 Sep;39(6):621-31. doi: 10.1055/s-0033-1353420. Epub 2013 Aug 8. Review.

PMID:
23929304
15.

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
16.

Factor XI deficiency with a novel homozygous mutation Trp599Arg near the C-terminal region.

Takamiya O, Machida S, Yamamoto M.

Haematologica. 2005 Jul;90(7):999-1001.

17.

Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val).

Jayandharan G, Shaji RV, Nair SC, Chandy M, Srivastava A.

J Thromb Haemost. 2005 Apr;3(4):808-11. No abstract available.

18.

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
19.

A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency.

Bozzao C, Rimoldi V, Asselta R, Landau M, Ghiotto R, Tenchini ML, De Cristofaro R, Castaman G, Duga S.

FEBS J. 2007 Dec;274(23):6128-38. Epub 2007 Oct 30.

20.

Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting.

Martincic D, Zimmerman SA, Ware RE, Sun MF, Whitlock JA, Gailani D.

Blood. 1998 Nov 1;92(9):3309-17. Erratum in: Blood 1999 Mar 1;93(5):1786.

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