Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation

Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features

(2011) T Eggermann et al.   CLINICAL GENETICS

Mechanisms of imprint dysregulation

(2010) Bernhard Horsthemke   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Uniparental disomy and human disease: An overview

(2010) Kazuki Yamazawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

(2010) M Begemann et al.   CLINICAL GENETICS

Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases

(2010) Salah Azzi et al.   Epigenetics

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

(2010) Claire Louise Susan Turner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Segmental maternal UPD(7q) in Silver-Russell syndrome

(2009) T Eggermann 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 7 and Silver–Russell syndrome – Clinical update and comparison with other subgroups

(2008) Dieter Kotzot   European Journal of Medical 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

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

Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome

(2008) Thomas Eggermann et al.   TRENDS IN GENETICS