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

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

(2015) Masayo Kagami et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Epigenetic Regulation of the DLK1-MEG3 MicroRNA Cluster in Human Type 2 Diabetic Islets

(2014) Vasumathi Kameswaran et al.   Cell Metabolism

ICR Noncoding RNA Expression Controls Imprinting and DNA Replication at the Dlk1-Dio3 Domain

(2014) Satya K. Kota et al.   DEVELOPMENTAL CELL

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

The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome

(2014) Yonatan Stelzer et al.   NATURE GENETICS

Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype

(2013) Jia-Chi Wang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The microRNAs within the DLK1-DIO3 genomic region: involvement in disease pathogenesis

(2012) Leonidas Benetatos et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

Identification of imprinting regulators at the Meg3 differentially methylated region

(2012) Erin N. McMurray et al.   GENOMICS

Uniparental disomies 7 and 14

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

Establishment of paternal allele-specific DNA methylation at the imprinted mouseGtl2locus

(2011) Kamila Nowak et al.   Epigenetics

Maternal age effect on the development of Prader–Willi syndrome resulting from upd(15)mat through meiosis 1 errors

(2011) Keiko Matsubara et al.   JOURNAL OF HUMAN GENETICS

Reprogramming transcription by distinct classes of enhancers functionally defined by eRNA

(2011) Dong Wang et al.   NATURE

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

Androgenetic/biparental mosaicism in a girl with Beckwith–Wiedemann syndrome-like and upd(14)pat-like phenotypes

(2010) Kazuki Yamazawa et al.   JOURNAL OF HUMAN GENETICS

Widespread transcription at neuronal activity-regulated enhancers

(2010) Tae-Kyung Kim et al.   NATURE

Cloning of avian Delta-like 1 homolog gene: The biallelic expression of Delta-like 1 homolog in avian species

(2010) S. Shin et al.   POULTRY SCIENCE

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

Beckwith–Wiedemann syndrome

(2009) Rosanna Weksberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes

(2009) Chris Wallace et al.   NATURE GENETICS

Maternal depletion of CTCF reveals multiple functions during oocyte and preimplantation embryo development

(2008) L.-B. Wan et al.   DEVELOPMENT

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

Origin, Evolution, and Biological Role of miRNA Cluster in DLK-DIO3 Genomic Region in Placental Mammals

(2008) E. A. Glazov et al.   MOLECULAR BIOLOGY AND EVOLUTION

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

(2008) Trilochan Sahoo et al.   NATURE 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

Genomic imprinting at the mammalian Dlk1-Dio3 domain

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