Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes

(2016) Jana Sachwitz et al.   BMC Medical Genetics

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region

(2015) Tracy A. Briggs et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation

(2015) Giovanni Corsello et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

(2015) Surabhi Mulchandani et al.   GENETICS IN MEDICINE

Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region

(2015) Tsutomu Ogata et al.   JOURNAL OF HUMAN GENETICS

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

(2015) Salah Azzi et al.   JOURNAL OF MEDICAL GENETICS

The differentially methylated region ofMEG8is hypermethylated in patients with Temple syndrome

(2015) Susanne Bens et al.   Epigenomics

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

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

(2014) Jill A. Rosenfeld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype

(2014) Masayo Kagami et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood

(2014) Mariëlle Alders et al.   European Journal of Medical Genetics

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

Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

(2014) Salah Azzi et al.   HUMAN MUTATION

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

(2014) Yiannis Ioannides et al.   JOURNAL OF MEDICAL GENETICS

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

Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes†

(2011) Kazuhiko Nakabayashi et al.   HUMAN MOLECULAR GENETICS

Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2

(2009) Hisato Kobayashi et al.   GENOMICS