A familial disorder of altered DNA-methylation

NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation

(2013) Sangeetha Mahadevan et al.   HUMAN MOLECULAR GENETICS

Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects

(2013) Jasmin Beygo et al.   PLoS One

No evidence for mutations inNLRP7andKHDC3Lin women with androgenetic hydatidiform moles

(2013) Sangeetha Mahadevan et al.   PRENATAL DIAGNOSIS

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

(2012) Ramesh Reddy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations inNLRP7 andKHDC3LConfer a Complete Hydatidiform Mole Phenotype on Digynic Triploid Conceptions

(2012) Masoumeh Fallahian et al.   HUMAN MUTATION

Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

(2011) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage

(2011) C. Messaed et al.   JOURNAL OF MEDICAL GENETICS

Transforming Growth Factor β Promotes Complexes between Smad Proteins and the CCCTC-binding Factor on theH19Imprinting Control Region Chromatin

(2010) Rosita Bergström et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation

(2009) C. Deveault et al.   HUMAN MOLECULAR GENETICS

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

(2009) Salah Azzi et al.   HUMAN MOLECULAR GENETICS

The Human Retinoblastoma Gene Is Imprinted

(2009) Deniz Kanber et al.   PLoS Genetics

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

(2009) Esther Meyer et al.   PLoS Genetics

New insights into the biology and origin of mature aggressive B-cell lymphomas by combined epigenomic, genomic, and transcriptional profiling

(2008) J. I. Martin-Subero et al.   BLOOD

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

(2008) Jet Bliek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

(2008) Susanne E Boonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

(2008) Deborah J G Mackay et al.   NATURE GENETICS