X‐chromosomal inactivation patterns in women with Fabry disease

X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay

(2021) Rini Rossanti et al.   Clinical and Experimental Nephrology

X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis

(2021) Emanuela Viggiano et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Stratification of Fabry mutations in clinical practice: a closer look at α‐galactosidase A‐3D structure

(2020) V. Rickert et al.   JOURNAL OF INTERNAL MEDICINE

New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis

(2020) Konstantinos Kolokotronis et al.   Journal of Clinical Medicine

X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers

(2020) Isabella Garagiola et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Patient‐derived in vitro skin models for investigation of small fiber pathology

(2019) Franziska Karl et al.   Annals of Clinical and Translational Neurology

Heritability of skewed X-inactivation in female twins is tissue-specific and associated with age

(2019) Antonino Zito et al.   Nature Communications

Female Fabry disease patients and X-chromosome inactivation

(2018) Patrycja Juchniewicz et al.   GENE

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

(2016) Maarten Arends et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant

(2016) Malte Lenders et al.   Orphanet Journal of Rare Diseases

Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y

(2016) Daniel Oder et al.   BMJ Open

X-chromosome inactivation in female patients with Fabry disease

(2015) L. Echevarria et al.   CLINICAL GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

(2015) Jan Lukas et al.   HUMAN MUTATION

Self-administered version of the Fabry-associated pain questionnaire for adult patients

(2015) Barbara Magg et al.   Orphanet Journal of Rare Diseases

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

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

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

(2012) E Viggiano et al.   CLINICAL GENETICS

X-inactivation in Fabry disease

(2012) Deborah Elstein et al.   GENE

Three New Loci for Determining X Chromosome Inactivation Patterns

(2011) Birgitte Bertelsen et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Elevated proinflammatory cytokine expression in affected skin in small fiber neuropathy

(2010) N. Uceyler et al.   NEUROLOGY

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

Skewing of X-inactivation ratios in blood cells of aging women is confirmed by independent methodologies

(2009) L. Busque et al.   BLOOD

The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology

(2008) G. Devigili et al.   BRAIN

Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

(2007) William R. Wilcox et al.   MOLECULAR GENETICS AND METABOLISM