(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, +18

European Journal of Human Genetics

Clinical DisordersGenetic DisorderGeneticsGenotype–phenotype CorrelationsGenetic Epidemiology +5

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

Hannah Demond, Zahra Anvar, Bahia Namavar Jahromi, +10

Genome Medicine

Stochastic epigenetic mutations (DNA methylation) increase exponentially in human aging and correlate with X chromosome inactivation skewing in females

Davide Gentilini, Paolo Garagnani, S. Pisoni, +6

Aging

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

Maria Vittoria Cubellis, Laura Pignata, Ankit Verma, +10

Clinical Epigenetics

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

Silvia Russo, Luciano Calzari, Alessandro Mussa, +20

Clinical Epigenetics

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

Angela Sparago, Ankit Verma, Maria Grazia Patricelli, +13

Clinical Epigenetics

Involvement of the yeast metacaspase Yca1 in Δ-programmed cell death

Maurizio Bettiga, Luciano Calzari, Ivan Orlandi, +2

FEMS Yeast Research

Fungal Cell BiologyApoptosisCell DeathAscorbic Acid AdditionCell Death Mechanisms +14

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

Thomas Eggermann, Elzem Yapici, Jet Bliek, +16

Clinical Epigenetics

Heterogeneity of Cellular Senescence: Cell Type-Specific and Senescence Stimulus-Dependent Epigenetic Alterations

Katarzyna Malgorzata Kwiatkowska, Eleni Mavrogonatou, Adamantia Papadopoulou, +11

Cells

ChromatinEpigenetic Age AccelerationDevelopmental BiologyAgingChromatin Remodeling +11

Fetal growth patterns in Beckwith–Wiedemann syndrome

Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, +18

Clinical Genetics

GeneticsFetal Growth PatternsEpigeneticsEmbryologyCdkn1c Mutation +15