Last Posted: Aug 05, 2021
- MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
Guevara-Fujita María Luisa et al. Molecular genetics & genomic medicine 2021 e1759
- Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.
Haber Gregory et al. Muscle & nerve 2020 Nov
- Diagnosing Muscular Dystrophies: Comparison of Techniques and Their Cost Effectiveness: A Multi-institutional Study.
Srivastava Pallavi et al. Journal of neurosciences in rural practice 2020 Jul 11(3) 420-429
- Evaluating the Diagnostic and Prognostic Value of Biomarkers for Heart Disease and Major Adverse Cardiac Events in Patients With Muscular Dystrophy.
Nikhanj Anish et al. European heart journal. Quality of care & clinical outcomes 2020 Jul
- Clinical and genetic characteristics of female dystrophinopathy carriers.
Zhong Jingzi et al. Molecular medicine reports 2019 Feb
- Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience.
Ardiçli Didem et al. Neuropediatrics 2018 Nov
- CLINGEN Actionability Report for Dilated cardiomyopathy - DMD, LMNA, TNNT2
ClinGen Actionability Working Group
- Medical Attitudes Survey for Female Dystrophinopathy Carriers in Japan.
Kobayashi Michio et al. Internal medicine (Tokyo, Japan) 2018 Mar
- Dystrophinopathy muscle biopsies in the genetic testing era: One center's data.
Carlson Courtney R et al. Muscle & nerve 2018 Jan
- DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.
Zhou Jiapeng et al. BMC bioinformatics 2017 Feb 18(1) 87
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
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- Gaucher Disease
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