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Items: 1 to 20 of 292

1.

Characterization of seven novel mutations causing factor XI deficiency.

Zucker M, Zivelin A, Landau M, Salomon O, Kenet G, Bauduer F, Samama M, Conard J, Denninger MH, Hani AS, Berruyer M, Feinstein D, Seligsohn U.

Haematologica. 2007 Oct;92(10):1375-80.

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
3.

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
4.

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.

5.

Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.

Kravtsov DV, Wu W, Meijers JC, Sun MF, Blinder MA, Dang TP, Wang H, Gailani D.

Blood. 2004 Jul 1;104(1):128-34. Epub 2004 Mar 16.

6.
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.

8.

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
9.

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
10.

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
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.

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
13.

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
14.

Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients.

Zadra G, Asselta R, Malcovati M, Santagostino E, Peyvandi F, Mannucci PM, Tenchini ML, Duga S.

Haematologica. 2004 Nov;89(11):1332-40.

15.
16.

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
17.

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.

18.

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
19.

Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.

Fard-Esfahani P, Lari GR, Ravanbod S, Mirkhani F, Allahyari M, Rassoulzadegan M, Ala F.

Haemophilia. 2008 Jan;14(1):91-5. Epub 2007 Nov 13.

PMID:
18005151
20.

Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians.

Zadra G, Asselta R, Tenchini ML, Castaman G, Seligsohn U, Mannucci PM, Duga S.

Haematologica. 2008 May;93(5):715-21. doi: 10.3324/haematol.12180. Epub 2008 Apr 2.

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