Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

(2013) Rebecca L. Poole et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

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

Epigenotype-phenotype correlations in Silver-Russell syndrome

(2010) E. L. Wakeling et al.   JOURNAL OF MEDICAL GENETICS

Health Supervision for Children With Prader-Willi Syndrome

(2010)   PEDIATRICS

The worldwide incidence of preterm birth: a systematic review of maternal mortality and morbidity

(2009) Stacey Beck et al.   BULLETIN OF THE WORLD HEALTH ORGANIZATION

Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype

(2009) U Zechner et al.   CLINICAL GENETICS

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

(2009) Salah Azzi et al.   HUMAN MOLECULAR GENETICS

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

(2009) Kana Hosoki et al.   JOURNAL OF PEDIATRICS

Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia

(2008) Anouck Schneider et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

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