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Results: 1 to 20 of 105

1.

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
[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.

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]
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.

PMID:
22016685
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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]
6.

Molecular characterization of FXI deficiency.

Berber E.

Clin Appl Thromb Hemost. 2011 Feb;17(1):27-32. doi: 10.1177/1076029609355587. Epub 2010 Mar 22.

PMID:
20308231
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
17971173
[PubMed - indexed for MEDLINE]
8.

Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency.

Germanos-Haddad M, de Moerloose P, Boehlen F, Peyvandi F, Neerman-Arbez M.

Haematologica. 2005 Mar;90(3):418-9.

PMID:
15749683
[PubMed - indexed for MEDLINE]
Free Article
9.

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]
10.

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
[PubMed - indexed for MEDLINE]
11.

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]
12.

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]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis.

Kim J, Kim Y, Shin S, Lyu CJ, Choi JR, Lee KA.

Blood Coagul Fibrinolysis. 2013 Jun;24(4):433-5. doi: 10.1097/MBC.0b013e32835bfe0c.

PMID:
23187786
[PubMed - indexed for MEDLINE]
17.

Four novel FXI gene mutations in three factor XI- deficient patients.

de Raucourt E, de Mazancourt P, Quélin F.

Blood Coagul Fibrinolysis. 2008 Apr;19(3):240-2. doi: 10.1097/MBC.0b013e3282f6d256.

PMID:
18388506
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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]

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