Mental retardation and psychosis in VCFS From the 22q11 deletion ...

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AIM OF THE STUDY To provide an estimate of the collective frequency of aset of recurrent/overlapping CNVs in three differentgroups of patients (autism, schizophrenia and mentalretardation) as compared with healthy controls To assess whether each CNV is present in more thanone clinical category
SUBJECTS 247 patients with mental retardation, without anyestablished syndrome 260 patients with autism 236 patients with schizophrenia or schizoaffectivedisorder 236 healthy controls
Page 1 and 2: !Mental retardation and psychosis i
Page 3 and 4: 14,5715,515,615,815,9616,0316,2616,
Page 5 and 6: MISSENSE MUTATIONS IN THE PRODH GEN
Page 7 and 8: MOLECULAR BASIS OF TYPE IHYPERPROLI
Page 9 and 10: CORRELATION BETWEEN HYPERPROLINEMIA
Page 11 and 12: VCFS SUBJECTS WITH SEVERE HYPERPROL
Page 13 and 14: SEVERE HYPERPROLINEMIA IS ASSOCIATE
Page 15 and 16: THE OPPOSITE STRATEGY: SEARCH FORPR
Page 17: TARGETED ANALYSIS28 candidate loci
Page 21 and 22: DISEASES ASSOCIATED CNVs: AUTISMID
Page 23 and 24: CONCLUSION• Type I hyperprolinemi

Mental retardation and psychosis in VCFS From the 22q11 deletion ...

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