相似文献
1
The Bleeding Assessment Tool and laboratory data in the characterisation of a female with inherited haemophilia A.
Blood Transfus. 2018 Jan;16(1):114-117. doi: 10.2450/2016.0132-16. Epub 2016 Nov 15.
2
[Haemophilia].
Ned Tijdschr Geneeskd. 2014;158:A7357.
3
Phenotype and genotype comparisons in carriers of haemophilia A.
Haemophilia. 2016 May;22(3):e235-7. doi: 10.1111/hae.12928. Epub 2016 Apr 4.
4
5
Molecular genetic analysis of a novel form of haemophilia A characterized by the variable expression of factor VIII.
Thromb Res. 1990 Sep 1;59(5):871-7. doi: 10.1016/0049-3848(90)90400-7.
6
Haemophilia A in two unrelated females due to F8 gene inversions combined with skewed inactivation of X chromosome.
Thromb Haemost. 2009 Apr;101(4):775-8.
7
Detection of haemophilia A during quality assurance of fresh frozen plasma.
Transfus Med. 2013 Jun;23(3):206. doi: 10.1111/tme.12019. Epub 2013 Mar 1.
8
Detecting haemophilia carriers.
Lancet. 1977 Aug 13;2(8033):339-40.
9
Editorial: Haemophilia carriers.
Lancet. 1974 Jul 13;2(7872):87.
10
von Willebrand disease masquerading as haemophilia A.
Thromb Haemost. 1992 Apr 2;67(4):391-6.
引用本文的文献
1
An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation.
Front Genet. 2025 Jan 6;15:1500167. doi: 10.3389/fgene.2024.1500167. eCollection 2024.
2
Mechanistic Insights into Factor VIII Immune Tolerance Induction via Prenatal Cell Therapy in Hemophilia A.
Curr Stem Cell Rep. 2019 Dec;5(4):145-161. doi: 10.1007/s40778-019-00165-y. Epub 2019 Nov 20.
本文引用的文献
1
Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation.
Int J Hematol. 2010 Sep;92(2):405-8. doi: 10.1007/s12185-010-0659-9. Epub 2010 Aug 11.
2
ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders.
J Thromb Haemost. 2010 Sep;8(9):2063-5. doi: 10.1111/j.1538-7836.2010.03975.x.
3
Haemophilia A in two unrelated females due to F8 gene inversions combined with skewed inactivation of X chromosome.
Thromb Haemost. 2009 Apr;101(4):775-8.
4
Molecular mechanisms underlying hemophilia A phenotype in seven females.
J Thromb Haemost. 2009 Jun;7(6):976-82. doi: 10.1111/j.1538-7836.2009.03346.x. Epub 2009 Mar 19.
5
Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene.
J Thromb Haemost. 2008 May;6(5):830-6. doi: 10.1111/j.1538-7836.2008.02926.x. Epub 2008 Feb 12.
6
Identifying type Vicenza von Willebrand disease.
J Lab Clin Med. 2006 Feb;147(2):96-102. doi: 10.1016/j.lab.2005.10.002.
7
Silencing of the mammalian X chromosome.
Annu Rev Genomics Hum Genet. 2005;6:69-92. doi: 10.1146/annurev.genom.6.080604.162350.
8
Gene action in the X-chromosome of the mouse (Mus musculus L.).
Nature. 1961 Apr 22;190:372-3. doi: 10.1038/190372a0.
9
Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles.
Haemophilia. 2003 Jan;9(1):125-30. doi: 10.1046/j.1365-2516.2003.00704.x.
10
Reduced von Willebrand factor survival in type Vicenza von Willebrand disease.
Blood. 2002 Jan 1;99(1):180-4. doi: 10.1182/blood.v99.1.180.
Zotero 插件