Molecular and clinical studies in 8 patients with Temple syndrome

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

(2017) Jasmin Beygo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2017) Masayo Kagami et al.   GENETICS IN MEDICINE

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes

(2016) Jana Sachwitz et al.   BMC Medical Genetics

New clinical and molecular insights into Silver–Russell syndrome

(2016) Eloïse Giabicani et al.   CURRENT OPINION IN PEDIATRICS

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

(2016) Katja Eggermann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2016) Masayo Kagami et al.   GENETICS IN MEDICINE

Angelman syndrome — insights into a rare neurogenetic disorder

(2016) Karin Buiting et al.   Nature Reviews Neurology

Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements

(2015) Claudia M.B. Carvalho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2015) Giulia Severi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Mosaicism and uniparental disomy in prenatal diagnosis

(2015) Thomas Eggermann et al.   TRENDS IN MOLECULAR MEDICINE

The differentially methylated region ofMEG8is hypermethylated in patients with Temple syndrome

(2015) Susanne Bens et al.   Epigenomics

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

(2015) Thomas Eggermann et al.   Clinical Epigenetics

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

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

(2014) F. Court et al.   GENOME RESEARCH

Exhaustive methylation analysis revealed uneven profiles of methylation atIGF2/ICR1/H1911p15 loci in Russell Silver syndrome

(2014) Salah Azzi et al.   JOURNAL OF MEDICAL 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

In Brief: Genomic imprinting and imprinting diseases

(2014) Bernhard Horsthemke   JOURNAL OF PATHOLOGY

Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy

(2012) Victoria Harrison et al.   CLINICAL DYSMORPHOLOGY

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

(2011) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

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

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

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