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Items: 1 to 20 of 165

1.

Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.

Bastida JM, González-Porras JR, Jiménez C, Benito R, Ordoñez GR, Álvarez-Román MT, Fontecha ME, Janusz K, Castillo D, Fisac RM, García-Frade LJ, Aguilar C, Martínez MP, Bermejo N, Herrero S, Balanzategui A, Martin-Antorán JM, Ramos R, Cebeiro MJ, Pardal E, Aguilera C, Pérez-Gutierrez B, Prieto M, Riesco S, Mendoza MC, Benito A, Hortal Benito-Sendin A, Jiménez-Yuste V, Hernández-Rivas JM, García-Sanz R, González-Díaz M, Sarasquete ME.

Thromb Haemost. 2017 Jan 5;117(1):66-74. doi: 10.1160/TH16-05-0375. Epub 2016 Oct 13.

PMID:
27734074
2.

Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing.

Lyu C, Xue F, Liu X, Liu W, Fu R, Sun T, Wu R, Zhang L, Li H, Zhang D, Yang R, Zhang L.

Haemophilia. 2016 Sep;22(5):e427-34. doi: 10.1111/hae.12924. Epub 2016 Jun 13.

PMID:
27292088
3.

Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutations.

Boylan B, Rice AS, De Staercke C, Eyster ME, Yaish HM, Knoll CM, Bean CJ, Miller CH; Hemophilia Inhibitor Research Study Investigators.

J Thromb Haemost. 2015 Jun;13(6):1036-42. doi: 10.1111/jth.12902. Epub 2015 May 9.

4.

Identification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene.

Bach JE, Wolf B, Oldenburg J, Müller CR, Rost S.

Thromb Haemost. 2015 Oct;114(4):757-67. doi: 10.1160/TH14-12-1011. Epub 2015 May 7.

PMID:
25948085
5.

The Canadian "National Program for hemophilia mutation testing" database: a ten-year review.

Rydz N, Leggo J, Tinlin S, James P, Lillicrap D.

Am J Hematol. 2013 Dec;88(12):1030-4. doi: 10.1002/ajh.23557. Epub 2013 Sep 9. Review. Erratum in: Am J Hematol. 2014 Jun;89(6):669. Natalia, Rydz [corrected to Rydz, Natalia]; Jayne, Leggo [corrected to Leggo, Jayne]; Shawn, Tinlin [corrected to Tinlin, Shawn]; Paula, James [corrected to James, Paula]; David, Lillicrap [corrected to Lillicrap, David].

6.

F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity.

Miller CH, Benson J, Ellingsen D, Driggers J, Payne A, Kelly FM, Soucie JM, Craig Hooper W; Hemophilia Inhibitor Research Study Investigators.

Haemophilia. 2012 May;18(3):375-82. doi: 10.1111/j.1365-2516.2011.02700.x. Epub 2011 Nov 21.

PMID:
22103590
7.

Recurrent F8 and F9 gene variants result from a founder effect in two large French haemophilia cohorts.

Lassalle F, Marmontel O, Zawadzki C, Fretigny M, Bouvagnet P, Vinciguerra C.

Haemophilia. 2018 Jul;24(4):e213-e221. doi: 10.1111/hae.13480. Epub 2018 Apr 14.

PMID:
29656491
8.

Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania.

Ivaškevičius V, Pezeshkpoor B, Biswas A, Goldmann G, Horneff S, Gimbutyte M, Malciute L, Jurgutis R, Oldenburg J.

Hamostaseologie. 2016 Nov 8;36(Suppl. 2):S29-S33.

PMID:
27824213
9.

Mutational spectrum and deep intronic variants in the factor VIII gene of haemophilia A patients. Identification by next generation sequencing.

Bach JE, Oldenburg J, Müller CR, Rost S.

Hamostaseologie. 2016 Nov 8;36(Suppl. 2):S25-S28.

PMID:
27824209
10.

Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.

Ivaskevicius V, Jurgutis R, Rost S, Müller A, Schmitt C, Wulff K, Herrmann FH, Müller CR, Schwaab R, Oldenburg J.

Br J Haematol. 2001 Mar;112(4):1062-70.

PMID:
11298607
11.

Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers.

Hudecova I, Jiang P, Davies J, Lo YMD, Kadir RA, Chiu RWK.

Blood. 2017 Jul 20;130(3):340-347. doi: 10.1182/blood-2016-12-755017. Epub 2017 May 10.

12.

Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

Radic CP, Rossetti LC, Abelleyro MM, Candela M, Pérez Bianco R, de Tezanos Pinto M, Larripa IB, Goodeve A, De Brasi C.

Thromb Haemost. 2013 Jan;109(1):24-33. doi: 10.1160/TH12-05-0302. Epub 2012 Oct 23.

13.

[Haemophilia].

Loomans JI, Lock J, Peters M, Leebeek FW, Cnossen MH, Fijnvandraat K.

Ned Tijdschr Geneeskd. 2014;158:A7357. Review. Dutch.

PMID:
25351381
14.

F8 and F9 mutations fail to co-segregate in a family with co-incident haemophilia A and B.

Siddiq S, Morse C, Goodeve A, Panayi M, Tait RC, Mumford A.

Haemophilia. 2011 Jan;17(1):e230-4. doi: 10.1111/j.1365-2516.2010.02396.x. Epub 2010 Sep 22.

PMID:
20860608
15.

Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.

Kwon MJ, Yoo KY, Kim HJ, Kim SH.

Haemophilia. 2008 Sep;14(5):1069-75. doi: 10.1111/j.1365-2516.2008.01796.x. Epub 2008 Jul 8.

PMID:
18624698
16.

Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR.

Abelleyro MM, Radic CP, Tetzlaff T, Marchione V, Fundia AF, Larripa IB, Rossetti LC, De Brasi CD.

Haemophilia. 2015 May;21(3):e247-51. doi: 10.1111/hae.12656. Epub 2015 Mar 10. No abstract available.

PMID:
25753911
17.

[Intragenic polymorphisms of factor VIII and IX genes and their utility in the indirect diagnosis of carriers of Haemophilias A and B].

Borjas L, Zabala W, Pineda L, Pardo T, Fernández E, Zambrano M, Quintero JM, Arteaga-Vizcaíno M, Morales-Machín A, Delgado W.

Invest Clin. 2010 Sep;51(3):391-401. Spanish.

PMID:
21305775
18.

Using genetic diagnostics in hemophilia and von Willebrand disease.

Swystun LL, James P.

Hematology Am Soc Hematol Educ Program. 2015;2015:152-9. doi: 10.1182/asheducation-2015.1.152. Review.

PMID:
26637715
19.

Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.

Guo ZP, Yang LH, Qin XY, Liu XE, Chen JF, Zhang YF.

Haemophilia. 2014 Nov;20(6):859-65. doi: 10.1111/hae.12534. Epub 2014 Sep 23.

PMID:
25251685
20.

Unexpected haemophilia despite pre-natal testing - a combined haemophilia A and haemophilia B family.

Roy NBA, Curry N, Keeling D.

Br J Haematol. 2017 Oct;179(2):182. doi: 10.1111/bjh.14840. Epub 2017 Jul 5. No abstract available.

PMID:
28677841

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