A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

(2014) Eric Bieth et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype

(2013) Jia-Chi Wang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prader-Willi syndrome

(2012) Suzanne B. Cassidy et al.   GENETICS IN MEDICINE

The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

(2012) Benjamin F. Voight et al.   PLoS Genetics

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

(2011) Jennifer Boyle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

(2010) Laura K. Conlin et al.   HUMAN MOLECULAR GENETICS

Recommendations for the Diagnosis and Management of Prader-Willi Syndrome

(2008) A. P. Goldstone et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM