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Items: 12

1.

Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype-phenotype relationship.

Tiscia GL, Favuzzi G, Lupone MR, Cappucci F, Schiavulli M, Mirabelli V, D'Andrea G, Chinni E, Giuliani N, Caliandro R, Grandone E.

Hum Genome Var. 2017 Nov 9;4:17043. doi: 10.1038/hgv.2017.43. eCollection 2017.

2.

Three Factor 11 Mutations Associated with Factor XI Deficiency in a Turkish Family.

Hançer VS, Gökgöz Z, Büyükdoğan M.

Turk J Haematol. 2018 Mar 1;35(1):79-80. doi: 10.4274/tjh.2017.0140. Epub 2017 Sep 26. No abstract available.

3.

Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families.

Colakoglu S, Bayhan T, Tavil B, Keskin EY, Cakir V, Gümrük F, Çetin M, Aytaç S, Berber E.

Blood Transfus. 2018 Jan;16(1):105-113. doi: 10.2450/2016.0098-16. Epub 2016 Oct 4.

4.

Why factor XI deficiency is a clinical concern.

Wheeler AP, Gailani D.

Expert Rev Hematol. 2016 Jul;9(7):629-37. doi: 10.1080/17474086.2016.1191944. Epub 2016 Jun 24. Review.

5.

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK.

Mol Genet Genomic Med. 2015 Jan;3(1):14-29. doi: 10.1002/mgg3.109. Epub 2014 Sep 15.

6.

Allelic interference: a mechanism for trans-dominant transmission of loss of function in the neurodegeneration of familial Alzheimer's disease.

Robakis NK, Georgakopoulos A.

Neurodegener Dis. 2014;13(2-3):126-30. doi: 10.1159/000354241. Epub 2013 Sep 24. Review.

7.

The dimeric structure of factor XI and zymogen activation.

Geng Y, Verhamme IM, Smith SB, Sun MF, Matafonov A, Cheng Q, Smith SA, Morrissey JH, Gailani D.

Blood. 2013 May 9;121(19):3962-9. doi: 10.1182/blood-2012-12-473629. Epub 2013 Mar 20.

8.

Structure and function of factor XI.

Emsley J, McEwan PA, Gailani D.

Blood. 2010 Apr 1;115(13):2569-77. doi: 10.1182/blood-2009-09-199182. Epub 2010 Jan 28. Review.

9.

Update on the physiology and pathology of factor IX activation by factor XIa.

Smith SB, Gailani D.

Expert Rev Hematol. 2008 Oct;1(1):87-98. doi: 10.1586/17474086.1.1.87. Review.

10.

Human plasma kallikrein-kinin system: physiological and biochemical parameters.

Bryant JW, Shariat-Madar Z.

Cardiovasc Hematol Agents Med Chem. 2009 Jul;7(3):234-50. Review.

11.

Dimer dissociation and unfolding mechanism of coagulation factor XI apple 4 domain: spectroscopic and mutational analysis.

Riley PW, Cheng H, Samuel D, Roder H, Walsh PN.

J Mol Biol. 2007 Mar 23;367(2):558-73. Epub 2006 Dec 29.

12.

A classification system for cross-reactive material-negative factor XI deficiency.

Kravtsov DV, Monahan PE, Gailani D.

Blood. 2005 Jun 15;105(12):4671-3. Epub 2005 Feb 22.

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