Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)

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

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

Identification of Rtl1, a Retrotransposon-Derived Imprinted Gene, as a Novel Driver of Hepatocarcinogenesis

(2013) Jesse D. Riordan et al.   PLoS Genetics

Hepatoblastoma in an infant with paternal uniparental disomy 14

(2012) Mariko Horii et al.   CONGENITAL ANOMALIES

Paternal uniparental disomy 14 and related disorders

(2012) Masayo Kagami et al.   Epigenetics

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

Uniparental disomies 7 and 14

(2011) Katrin Hoffmann et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Effects of endocrine disruptors on imprinted gene expression in the mouse embryo

(2011) Eun-Rim Kang et al.   Epigenetics

DLK1, a serum marker for hepatoblastoma in young infants

(2011) Farah A. Falix et al.   PEDIATRIC BLOOD & CANCER

Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14

(2011) Osamu Miyazaki et al.   PEDIATRIC RADIOLOGY

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

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

(2009) Kana Hosoki et al.   JOURNAL OF PEDIATRICS

Gene Dosage Effects of the Imprinted Delta-Like Homologue 1 (Dlk1/Pref1) in Development: Implications for the Evolution of Imprinting

(2009) Simao Teixeira da Rocha et al.   PLoS Genetics

Monozygotic female twins discordant for Silver–Russell syndrome and hypomethylation of the H19-DMR

(2008) Kazuki Yamazawa et al.   JOURNAL OF HUMAN GENETICS

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

Placentomegaly in Paternal Uniparental Disomy for Human Chromosome 14

(2008) M. Kagami et al.   PLACENTA

Genomic imprinting at the mammalian Dlk1-Dio3 domain

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