Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A-Reference-Cited by-同舟云学术

Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A

Published:2005-03-02 Issue:5 Volume:13 Page:635-640
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bicocchi Maria Patrizia,Migeon Barbara R,Pasino Mirella,Lanza Tiziana,Bottini Federico,Boeri Elio,Molinari Angelo C,Corsolini Fabio,Morerio Cristina,Acquila Maura

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201386.pdf

Reference27 articles.

1. Seeler RA, Vnencak-Jones CL, Bassett LM, Gilbert JB, Michaelis RC : Severe haemophilia A in a female: a compound heterozygote with nonrandom X-inactivation. Haemophilia 1999; 5: 445–449.

2. David D, Morais S, Ventura C, Campos M : Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles. Haemophilia 2003; 9: 125–130.

3. Mazurier C, Parquet-Gernez A, Gaucher C, Lavergne JM, Goudemand J : Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A. Br J Haematol 2002; 119: 390–392.

4. Migeon BR, McGinniss MJ, Antonarakis SE et al: Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28. Genomics 1993; 16: 20–25.

5. Valleix S, Vinciguerra C, Lavergne JM, Leuer M, Delpech M, Negrier C : Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. Blood 2002; 100: 3034–3036.

Cited by 38 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression;Journal of Medical Genetics;2024-05-06

2. X-linked chronic granulomatous disease secondary to skewed X-chromosome inactivation in female patients;Clinical and Experimental Immunology;2023-12-08

3. Clinical and radiological assessment of joints in people with haemophilia in Assam, Northeast India: a cross-sectional study;The Journal of Haemophilia Practice;2023-01-01

4. Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia;The Application of Clinical Genetics;2022-10

5. The Clinical Genetics of Hemophilia B (Factor IX Deficiency);The Application of Clinical Genetics;2021-11