Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

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

(2016) Masayo Kagami et al.   GENETICS IN MEDICINE

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

(2016) Emma L. Wakeling et al.   Nature Reviews Endocrinology

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

Meiosis and Maternal Aging: Insights from Aneuploid Oocytes and Trisomy Births

(2015) Mary Herbert et al.   Cold Spring Harbor Perspectives in Biology

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

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

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

(2014) John R. B. Perry et al.   NATURE

Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth

(2013) KJ Jacob et al.   CLINICAL GENETICS

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

DLK1(PREF1) is a negative regulator of adipogenesis in CD105+/CD90+/CD34+/CD31−/FABP4− adipose-derived stromal cells from subcutaneous abdominal fat pats of adult women

(2012) Maria C Mitterberger et al.   Stem Cell Research

West syndrome associated with mosaic duplication ofFOXG1in a patient with maternal uniparental disomy of chromosome 14

(2011) Jun Tohyama et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature

(2011) EMILY C LISI et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

A de novo paradigm for mental retardation

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

Dlk1 Is Necessary for Proper Skeletal Muscle Development and Regeneration

(2010) Jolena N. Waddell 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

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

(2009) Kana Hosoki et al.   JOURNAL OF PEDIATRICS

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

Prader–Willi syndrome

(2008) Suzanne B Cassidy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2–H19 domain in bodies and placentas

(2008) Kazuki Yamazawa et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

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