Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Phenotypic variability and genetic susceptibility to genomic disorders

(2010) S. Girirajan et al.   HUMAN MOLECULAR GENETICS

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

(2010) Francesca Antonacci et al.   NATURE GENETICS

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

(2009) Merlin G. Butler et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

(2009) S Ben-Shachar et al.   JOURNAL OF MEDICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Array comparative genomic hybridization (aCGH) analysis in Prader–Willi syndrome

(2008) Merlin G. Butler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prader–Willi syndrome

(2008) Suzanne B Cassidy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age

(2008) Elisabeth M. Dykens et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS