Different methylation patterns in BWS/SRS cases clarified by MS-MLPA

Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

(2011) Valeria Romanelli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

(2010) V. Romanelli et al.   JOURNAL OF MEDICAL GENETICS

Silver-Russell syndrome: genetic basis and molecular genetic testing

(2010) Thomas Eggermann et al.   Orphanet Journal of Rare Diseases

Beckwith–Wiedemann syndrome

(2009) Rosanna Weksberg et al.   EUROPEAN JOURNAL OF HUMAN 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

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment

(2008) Manuela Priolo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS