Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances

Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype

(2015) Julia Kolarova et al.   European Journal of Medical Genetics

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

(2015) Louise E. Docherty et al.   Nature Communications

Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting

(2015) Marta Sanchez-Delgado et al.   PLoS Genetics

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations

(2014) Toshiyuki Maeda et al.   GENETICS IN MEDICINE

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

(2014) F. Court et al.   GENOME RESEARCH

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

(2013) Rebecca L. Poole et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients withGNASEpimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b

(2013) Stéphanie Maupetit-Méhouas et al.   HUMAN MUTATION

Ensembl 2014

(2013) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

The Origin of the RB1 Imprint

(2013) Deniz Kanber et al.   PLoS One

H19 lncRNA controls gene expression of the Imprinted Gene Network by recruiting MBD1

(2013) P. Monnier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Frequency and characterization of DNA methylation defects in children born SGA

(2012) Susanne Bens et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at theGNASLocus

(2012) Gustavo Perez-Nanclares et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Differential DNA Methylation in Purified Human Blood Cells: Implications for Cell Lineage and Studies on Disease Susceptibility

(2012) Lovisa E. Reinius et al.   PLoS One

Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case

(2012) Xueling Ou et al.   TRANSFUSION

UPD detection using homozygosity profiling with a SNP genotyping microarray

(2011) Peter Papenhausen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An atypical case of hypomethylation at multiple imprinted loci

(2011) Emma L Baple et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Directional DNA Methylation Changes and Complex Intermediate States Accompany Lineage Specificity in the Adult Hematopoietic Compartment

(2011) Emily Hodges et al.   MOLECULAR CELL

Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

(2010) Berivan Baskin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

(2010) M Begemann et al.   CLINICAL GENETICS

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

(2010) Claire Louise Susan Turner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan

(2009) Matthew C. Keller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Primary congenital glaucoma caused by the homozygous F261LCYP1B1mutation and paternal isodisomy of chromosome 2

(2009) M-P López-Garrido et al.   CLINICAL GENETICS

Trisomic rescue causing reduction to homozygosity for a novelABCA12mutation in harlequin ichthyosis

(2009) D Castiglia et al.   CLINICAL GENETICS

A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology

(2009) B.A. Talseth-Palmer et al.   CYTOGENETIC AND GENOME RESEARCH

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

Inherited Surfactant Deficiency Caused by Uniparental Disomy of Rare Mutations in the Surfactant Protein-B and ATP Binding Cassette, Subfamily A, Member 3 Genes

(2009) Aaron Hamvas et al.   JOURNAL OF PEDIATRICS

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

(2009) Esther Meyer et al.   PLoS Genetics

Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygousLRP2mutation due to complete chromosome 2 paternal isodisomy

(2008) Sibel Kantarci et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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