Associated Papers
Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.
Fazio A et al.
Genes, 2025
Epilepsy due to a MED25 Homozygous Pathogenic Founder Variant.
Ng AC et al.
Journal of Child Neurology, 2025
Unraveling the pathogenicity role of the novel compound heterozygous mutations of MED25 gene in a Chinese patient with BVSYS.
Zou L et al.
Frontiers in Genetics, 2025
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Maini I et al.
Neurogenetics, 2021
Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.
Haynes D et al.
American Journal of Medical Genetics. Part A, 2020
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation.
Nair P et al.
Molecular Syndromology, 2019
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
Nair P et al.
Molecular Syndromology, 2019
[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].
Cohen L et al.
Harefuah, 2017
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Basel-Vanagaite L et al.
Human Genetics, 2015
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.
Figueiredo T et al.
Journal of Medical Genetics, 2015
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