Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis-Reference-Cited by-同舟云学术

Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis

Published:2018-02-28 Issue:3 Volume:6 Page:357-369
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Mason Jane A.¹^ORCID,Aung Hnin T.²,Nandini Adayapalam²,Woods Rickie G.³,Fairbairn David J.³,Rowell John A.¹²³,Young David³,Susman Rachel D.⁴,Brown Simon A.⁵,Hyland Valentine J.³,Robertson Jeremy D.⁵

Affiliation:

1. Queensland Haemophilia Centre; Department of Haematology and Cancer Care; Royal Brisbane and Women's Hospital; Brisbane QLD Australia

2. Department of Cytogenetics; Pathology Queensland; Royal Brisbane and Women's Hospital; Brisbane QLD Australia

3. Department of Molecular Genetics; Pathology Queensland; Royal Brisbane and Women's Hospital; Brisbane QLD Australia

4. Genetic Health Queensland; Royal Brisbane and Women's Hospital; Brisbane QLD Australia

5. Department of Haemophilia and Haematology; Lady Cilento Children's Hospital; Brisbane QLD Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.378/fullpdf

Reference35 articles.

1. Application of carrier testing to genetic counseling for X-linked agammaglobulinemia;Allen;American journal of human genetics.,1994

2. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;American journal of human genetics.,1992

3. X chromosome-inactivation patterns of 1,005 phenotypically unaffected females;Amos-Landgraf;American Journal of Human Genetics,2006

4. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A;Bagnall;Blood,2002

5. Genetic control of X inactivation and processes leading to X-inactivation skewing;Belmont;American journal of human genetics.,1996

Cited by 6 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. Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients;Diagnostics;2022-09-20

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

3. Genetic causes of haemophilia in women and girls;Haemophilia;2020-12-13

4. Genetic analysis for carrier diagnosis in hemophilia A and B in the Mexican population: 25 years of experience;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2020-11-15

5. Skewed Inactivation of X Chromosome: A Cause of Hemophilia Manifestation in Carrier Females;Cureus;2020-10-28