New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer

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

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

(2015) L. A. Jolly et al.   HUMAN MOLECULAR GENETICS

Down-Regulated Long Non-Coding RNA MEG3 and its Effect on Promoting Apoptosis and Suppressing Migration of Trophoblast Cells

(2015) Yuanyuan Zhang et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

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

Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities

(2014) Gabriel C. Dworschak et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Integrated Genomic Characterization of Papillary Thyroid Carcinoma

(2014) Nishant Agrawal et al.   CELL

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

Genomic Imprinting Variations in the Mouse Type 3 Deiodinase Gene Between Tissues and Brain Regions

(2014) M. Elena Martinez et al.   MOLECULAR ENDOCRINOLOGY

Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype

(2013) Aiko Sasaki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetics and epigenetics of sporadic thyroid cancer

(2013) Dang Vu-Phan et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

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

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

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats

(2010) F. Bena et al.   HUMAN MOLECULAR GENETICS

The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis

(2010) Greta Forlani et al.   HUMAN MOLECULAR GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

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

The Begain gene marks the centromeric boundary of the imprinted region on mouse chromosome 12

(2009) Sascha Tierling et al.   MAMMALIAN GENOME

Array-based comparative genomic hybridization in early-stage mycosis fungoides: Recurrent deletion of tumor suppressor genesBCL7A, SMAC/DIABLO, andRHOF

(2008) Angelo Carbone et al.   GENES CHROMOSOMES & CANCER

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