Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy-Reference-Cited by-同舟云学术

Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy

Published:2016-04-21 Issue:7 Volume:135 Page:685-698
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Viggiano Emanuela,Ergoli Manuela,Picillo Esther,Politano Luisa

Funder

Fondazione Telethon

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-016-1666-6.pdf

Reference157 articles.

1. Abbadi N, Philippe C, Chery M et al (1994) Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation. Am J Med Genet 52:198–206. doi: 10.1002/ajmg.1320520215

2. Abrams L, Cotter PD (2004) Prenatal diagnosis of de novo X;autosome translocations. Clin Genet 65:423–428. doi: 10.1111/j.0009-9163.2004.00255.x

3. Allen RC (1993) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229–1239

4. Amos-Landgraf JM, Cottle A, Plenge RM et al (2006) X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. Am J Hum Genet 79:493–499

5. Azofeifa J, Voit T, Hübner C, Cremer M (1995) X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet 96:167–176

Cited by 56 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. Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy;Muscle & Nerve;2024-09-02

2. Functional specialisation and coordination of myonuclei;Biological Reviews;2024-03-13

3. A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family;BMC Medical Genomics;2024-02-01

4. Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies;Journal of Community Genetics;2024-01-02

5. X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement;Internal Medicine;2024