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Maria Giuseppina Miano

International Institute of Minnesota

33

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Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures

2021 Genes
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DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms.

2020 Genes
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P37. Analysis of cortical gene expression variability in a mouse model of x-linked infantile spams syndrome

2019
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Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

2014 Human Mutation
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A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX

2013 American Journal of Human Genetics
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Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region

2011 Human Reproduction
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The LCR at the IKBKG Locus Is Prone to Recombine

2010 American Journal of Human Genetics
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New findings from MECP2-308 and KFL7 mice as models of mental retardation

2008
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MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions

2007 BMC Medical Genetics
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Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

2007 BMC Medical Genetics
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Citations (18)