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

Juvenile Myasthenia Gravis: Recommendations for Diagnostic Approaches and Treatment

(2014) Heike Trippe et al.   NEUROPEDIATRICS

Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

(2013) Sandra Mercier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains

(2013) Allison M. Cotton et al.   HUMAN MOLECULAR GENETICS

Symptomatic female carriers of Duchenne muscular dystrophy (DMD): Genetic and clinical characterization

(2013) Florencia Giliberto et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

(2012) Simona Brioschi et al.   BMC Medical Genetics

Site-Specific Silencing of Regulatory Elements as a Mechanism of X Inactivation

(2012) J. Mauro Calabrese et al.   CELL

Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters

(2012) E Viggiano et al.   CLINICAL GENETICS

RNF12 initiates X-chromosome inactivation by targeting REX1 for degradation

(2012) Cristina Gontan et al.   NATURE

Topological domains in mammalian genomes identified by analysis of chromatin interactions

(2012) Jesse R. Dixon et al.   NATURE

Spatial partitioning of the regulatory landscape of the X-inactivation centre

(2012) Elphège P. Nora et al.   NATURE

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

(2012) Jonàs Juan-Mateu et al.   Orphanet Journal of Rare Diseases

Live-Cell Chromosome Dynamics and Outcome of X Chromosome Pairing Events during ES Cell Differentiation

(2011) Osamu Masui et al.   CELL

Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype

(2011) Rita Genesio et al.   Epigenetics

The inactive X chromosome adopts a unique three-dimensional conformation that is dependent on Xist RNA

(2011) E. Splinter et al.   GENES & DEVELOPMENT

Carrier Woman of Duchenne Muscular Dystrophy Mimicking Inflammatory Myositis

(2011) Jiyeol Yoon et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy: Predicting the severity of Duchenne Muscular Dystrophy: Implications For Treatment

(2011) T. Kyriakides et al.   NEUROLOGY

RNF12 Activates Xist and Is Essential for X Chromosome Inactivation

(2011) Tahsin Stefan Barakat et al.   PLoS Genetics

Female-biased expression of long non-coding RNAs in domains that escape X-inactivation in mouse

(2010) Björn Reinius et al.   BMC GENOMICS

Xp21/autosome translocations

(2010) Jeanette J. A. Holden et al.   CLINICAL GENETICS

Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy

(2010) Mieko Yoshioka et al.   CLINICAL GENETICS

A study of possible heterogeneity in Duchenne muscular dystrophy

(2010) Alan E. H. Emery et al.   CLINICAL GENETICS

The manifesting carrier in Duchenne muscular dystrophy

(2010) H. Moser et al.   CLINICAL GENETICS

Genome–nuclear lamina interactions and gene regulation

(2010) Jop Kind et al.   CURRENT OPINION IN CELL BIOLOGY

Ftx is a non-coding RNA which affects Xist expression and chromatin structure within the X-inactivation center region

(2010) Corinne Chureau et al.   HUMAN MOLECULAR GENETICS

Clinical and genetic characterization of manifesting carriers of DMD mutations

(2010) Payam Soltanzadeh et al.   NEUROMUSCULAR DISORDERS

Symptomatic dystrophinopathies in female children

(2010) Natashia Seemann et al.   NEUROMUSCULAR DISORDERS

Homozygous female Becker muscular dystrophy

(2009) Katsunori Fujii et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

X chromosome inactivation in clinical practice

(2009) Karen Helene Ørstavik   HUMAN GENETICS

Correlation between Clinical Phenotypes and X-inactivation Patterns in Six Female Carriers with Heterozygote Vasopressin Type 2 Receptor Gene Mutations

(2008) Mari SATOH et al.   ENDOCRINE JOURNAL

Duchenne muscular dystrophy (DMD) in a girl with balanced translocation (X;3)(p21.1;p13) and psychomotor delay

(2008) E. Obersztyn et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B

(2008) K. OKUMURA et al.   HAEMOPHILIA

Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families – Detection of carrier status in symptomatic and asymptomatic female relatives

(2008) Henriett Pikó et al.   NEUROMUSCULAR DISORDERS

Muscle Pain as the Only Presenting Symptom in a Girl With Dystrophinopathy

(2007) Berten P. Ceulemans et al.   PEDIATRIC NEUROLOGY