Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis

Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother

(2016) Mariko Taniguchi-Ikeda et al.   JOURNAL OF HUMAN GENETICS

Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01

(2014) R Cascella et al.   PHARMACOGENOMICS JOURNAL

Germinal Mosaicism in a Sample of Families with Duchenne/Becker Muscular Dystrophy with Partial Deletions in the DMD Gene

(2013) Cesárea Bermúdez-López et al.   Genetic Testing and Molecular Biomarkers

Association ofKIF3A, but notOVOL1andACTL9, with atopic eczema in Italian patients

(2012) T. Lepre et al.   BRITISH JOURNAL OF DERMATOLOGY

Polymorphisms in ARMS2 (LOC387715) and LOXL1 Genes in the Japanese With Age-Related Macular Degeneration

(2011) Tiziana Lepre et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

(2011) Monique M van Veghel-Plandsoen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation

(2010) C. Thomas Caskey et al.   CLINICAL GENETICS

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

(2010) Stephen Abbs et al.   NEUROMUSCULAR DISORDERS

Somatic mosaicism for Duchenne dystrophy: Evidence for genetic normalization mitigating muscle symptoms

(2009) Akanchha Kesari et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

(2009) ATJM Helderman-van den Enden et al.   CLINICAL GENETICS

Cardiac involvement in a female carrier of Duchenne muscular dystrophy

(2008) Thomas Walcher et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

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

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