Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

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

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

UPD detection using homozygosity profiling with a SNP genotyping microarray

(2011) Peter Papenhausen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

(2011) Hutton M. Kearney et al.   CLINICS IN LABORATORY MEDICINE

Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature

(2010) Z. Powis et al.   JOURNAL OF APPLIED GENETICS

Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects

(2008) Emily Graves Allen et al.   HUMAN GENETICS