Intron 22 Inversion | List of Frontiers open access articles

Original Research

Published on 06 Jan 2025

An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

in Genetics of Common and Rare Diseases

Xiaoyan Tan
Yi Yang
Xia Wu
Jing Zhu
Teng Wang
Huihui Jiang
Shu Chen
Shifeng Lou

Frontiers in Genetics

doi 10.3389/fgene.2024.1500167

3,357 views
1 citation

Brief Research Report

Published on 09 Feb 2023

F8 gene inversion and duplication cause no obvious hemophilia A phenotype

in Genetics of Common and Rare Diseases

Shaoying Li
Jianchun He
Liming Chu
Shuai Ren
Wenzhi He
Xiaoyan Ma
Yanchao Wang
Mincong Zhang
Lingyin Kong
Bo Liang

Frontiers in Genetics

doi 10.3389/fgene.2023.1098795

9,429 views
3 citations

Case Report

Published on 18 Jul 2025

Progressive cephalohematoma in a neonate revealing severe hemophilia a owing to intron 22 inversion: a case report

in Pediatric Hematology and Hematological Malignancies

Cheng Peng
Qiuyue Kou
Qianqian Xia
Zhongfen Cao
Lili Liu
Xinlin Hou
Zezhong Tang

Frontiers in Pediatrics

doi 10.3389/fped.2025.1649183

2,991 views
1 citation

Original Research

Accepted on 30 Apr 2026

Genetic Analysis of F8 Mutations in Five Hemophilia A Carriers

in Hematology

Huizi Sun
Libin Mei
Xuemei He
Haijie Gao
Xianjing Huang
Jiayan Chen
Meijiao Cai
Ping Li
Yunsheng Ge
Yanru Huang

Frontiers in Medicine

189 views

Original Research

Published on 01 Mar 2023

Hemophilia A subjects with an intron-22 gene inversion mutation show CD4+ T-effector responses to multiple epitopes in FVIII

in Immunological Tolerance and Regulation

Devi Gunasekera
Pooja Vir
Ahmad Faisal Karim
Margaret V. Ragni
Kathleen P. Pratt

Frontiers in Immunology

doi 10.3389/fimmu.2023.1128641

8,085 views
9 citations

Original Research

Published on 29 May 2019

F8 Inversions at Xq28 Causing Hemophilia A Are Associated With Specific Methylation Changes: Implication for Molecular Epigenetic Diagnosis

in Epigenomics and Epigenetics

Muhammad Ahmer Jamil
Amit Sharma
Nicole Nuesgen
Behnaz Pezeshkpoor
André Heimbach
Anne Pavlova
Johannes Oldenburg
Osman El-Maarri

Frontiers in Genetics

doi 10.3389/fgene.2019.00508

9,459 views
19 citations

Articles

An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

F8 gene inversion and duplication cause no obvious hemophilia A phenotype

Progressive cephalohematoma in a neonate revealing severe hemophilia a owing to intron 22 inversion: a case report

Genetic Analysis of F8 Mutations in Five Hemophilia A Carriers

Hemophilia A subjects with an intron-22 gene inversion mutation show CD4+ T-effector responses to multiple epitopes in FVIII

F8 Inversions at Xq28 Causing Hemophilia A Are Associated With Specific Methylation Changes: Implication for Molecular Epigenetic Diagnosis