Associated Papers
A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?
Verebi C et al.
Journal of Genetic Counseling, 2025
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Jolly A et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.
Guo R et al.
Journal of Human Genetics, 2015
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s1.pdf
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Hofstra RM et al.
Human Mutation, 2004
Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.
van Essen AJ et al.
American Journal of Medical Genetics. Part A, 2003
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