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Title
A familial disorder of altered DNA-methylation
Authors
Keywords
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Journal
JOURNAL OF MEDICAL GENETICS
Volume 51, Issue 6, Pages 407-412
Publisher
BMJ
Online
2014-04-11
DOI
10.1136/jmedgenet-2013-102149
References
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Related references
Note: Only part of the references are listed.- 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
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