References
- FlintJWilkieAOBuckleVJWinterRMHollandAJMcDermidHEThe detection of subtelomeric chromosomal rearrangements in idiopathic mental retardationNat Genet199591321407719339
- WongACCNingYFlintJMolecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardationAm J Hum Genet1997601131208981954
- PrechtKSLeseCMSpiroRPTwo 22q telomere deletions serendipitously detected by FISHJ Med Genet1998359399429832042
- PhelanMCRogersRCSaulRA22q13 Deletion syndromeAm J Med Genet2001101919911391650
- RavnanJBTepperbergJHPapenhausenPSubtelomere FISH analysis of 11688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilitiesJ Med Genet20064347848916199540
- BonagliaMCGiordaRBeriSMolecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndromePloS Genetics20117e100217321779178
- SarasuaSMDwivideABoccutoLAssociation between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)J Med Genet20114876176621984749
- WilsonHLCrollaJAWalkerDIntersitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language developmentEur J Hum Genet2003161301131018523453
- PhelanMCDeletion 22q13.3 syndromeOrph J Rare Dis2008314
- BonagliaMCGiordaRBorgattiRDisruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndromeAm J Hum Genet20016926126811431708
- BonagliaMCGiordaRManiEIdentification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndromeJ Med Genet20064382282816284256
- PrasadCPrasadANChodirkerBNGenetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotypeClin Genet20005710310910735630
- LucianiJJde MasPDepetrisDTelomeric 22q13 deletions resulting from rings, simple deletions and translocations: cytogenetic, molecular and clinical analyses of 32 new observationsJ Med Genet20034069069612960216
- MoessnerRMarshallCRSutcliffeJContribution of SHANK3 mutations to autism spectrum disorderAm J Med Genet20078112981297
- DurandCMBetancurCBoeckersTMMutations in de gene encoding the synaptic scafolding protein SHANK3 are associated with autism spectrum disordersNat Genet200739252717173049
- PhilippeABoddaertNVaivre-DouretLNeurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhoodPediatrics2008122376382
- HavensJMVisootsakJPhelanMCGrahamJM22q13 deletion syndrome: an update and review for the primary pediatricianClin Pediatr2004434353
- Cusmano-OzogKManningMAHoymeHE22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delayAm J Med Genet2007145C39339817926345
- DharSUDel-GaudioDGermanJR22q13.3 Deletion syndrome: clinical and molecular analysis using array CGHAm J Med Genet2010152A57358120186804
- ManningMACassidySBClericuzioCTerminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrumPediatrics200411445145715286229
- LindquistSGKirchhoffMLundsteenCFurther deleneation of the 22q13 syndromeClin Dysmorphol200514556015770125
- VerhoevenWMATuinierSCyclothymia or unstable mood disorder. A systematic treatment evaluation with valproic acidJ Appl Res Intellect Disabil20011410471154
- GualtieriCTBrain injury and mental retardation: psychopharmacology and neuropsychiatryPhiladelphia, PALippincott Williams & Wilkins2002
- VerhoevenWMASijbenAESTuinierSPsychiatric consultation in intellectual disability: demensions, domains and vulnerabilityEur J Psychiat2004183143
- SchmahmannJDWeilberJBShermanJCThe neuropsychiatry of the cerebellum: insights from the clinicCerebellum2007625426717786822
- HoppenbrouwersSSSchutterDJLGFitzgeraldPBChenRDaskalakisZJThe role of the cerebellum in the pathophysiology and treatment of neuropsychiatric disoders: a reviewBrain Res Rev20085918520018687358
- EggerJIMDe MeyHRAJanssenGAssessment of executive functioning in psychiatric disorders: functional diagnosis as the ouverture of treatmentClin Neuropsychiatr20074111116
- Van DuinGDijkshoornYNoensIScholteEvan Berckelaer-OnnesIVineland screener 0–12 years research version (NL). Constructing a screening instrument to assess adaptive behaviourInt J Methods Psychiatr Res20091811011719507164
- MatsonJLKazdinAESenatoreVPsychometric properties of the Psychopathological Instrument for Mentally Retarded AdultsAppl Res Ment Retard1984581896721483
- CummingsJLMegaMGrayKThe Neuropsychiatric Inventory: comprehensive assessment of psychopathology in dementiaNeurology199444230823147991117