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

TBR1is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

(2014) Orazio Palumbo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

(2014) Jasmin Beygo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

(2012) Masayo Kagami et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

MEG3 noncoding RNA: a tumor suppressor

(2012) Yunli Zhou et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

(2011) Hutton M. Kearney et al.   CLINICS IN LABORATORY MEDICINE

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14

(2010) Melita D. Irving et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14

(2010) Tsutomu Ogata et al.   Epigenetics

The Imprinted Retrotransposon-Like Gene PEG11 (RTL1) Is Expressed as a Full-Length Protein in Skeletal Muscle from Callipyge Sheep

(2010) Keren Byrne et al.   PLoS One

The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers

(2010) Masayo Kagami et al.   PLoS Genetics

Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype

(2009) U Zechner et al.   CLINICAL GENETICS

Maternally Expressed Gene 3 (MEG3) Noncoding Ribonucleic Acid: Isoform Structure, Expression, and Functions

(2009) Xun Zhang et al.   ENDOCRINOLOGY

Structural conservation versus functional divergence of maternally expressed microRNAs in the Dlk1/Gtl2 imprinting region

(2008) Martin Kircher et al.   BMC GENOMICS

Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype

(2008) Kana Hosoki et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprintedDLK1/GTL2gene cluster

(2008) Karin Buiting et al.   HUMAN MUTATION

Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta

(2008) Yoichi Sekita et al.   NATURE GENETICS

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

(2008) Masayo Kagami et al.   NATURE GENETICS

Genomic imprinting at the mammalian Dlk1-Dio3 domain

(2008) Simao Teixeira da Rocha et al.   TRENDS IN GENETICS