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Andrea Riccio

Seconda Università degli Studi di Napoli

137

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Clinical and molecular characterization of patients with Beckwith-Wiedemann spectrum conceived through assisted reproductive technology

2021 Molecular Genetics and Metabolism
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The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model.

2021 Human Molecular Genetics
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Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome

2021 Genes
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A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype.

2020 European Journal of Human Genetics
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DNA Methylation in the Diagnosis of Monogenic Diseases

2020 Genes
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Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

2020 Clinical Epigenetics
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Wnt/β-catenin signaling pathway safeguards epigenetic stability and homeostasis of mouse embryonic stem cells

2019 Scientific Reports
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The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

2019 Clinical Epigenetics
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A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation

2019 Genome Medicine
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Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

2019 Genetics in Medicine
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