22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay
about
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome.Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental MechanismsGrowth in Phelan-McDermid syndromePhelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoringNeuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills22q13.3 deletion syndrome: clinical and molecular analysis using array CGHClinical utility gene card for: deletion 22q13 syndromeUltrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice.Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?Absence of strong strain effects in behavioral analyses of Shank3-deficient miceAnnual Research Review: Transgenic mouse models of childhood-onset psychiatric disorders.The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutationsSubmicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disabilityRecurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.Genetic insights into the functional elements of language.Synaptic signaling and aberrant RNA splicing in autism spectrum disorders22q13.32 deletion and duplication and inversion in the same family: a rare occurrence.Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.Epigenetics, genomic mutations and cognitive function.Modeling of autism genetic variations in mice: focusing on synaptic and microcircuit dysfunctions.Autism spectrum disorders: the quest for genetic syndromes.Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.Autism and chromosome abnormalities-A review.Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy.Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder.Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism?Neuropsychological profile of Italian children and adolescents with 22q11.2 deletion syndrome with and without intellectual disability.Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor.Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Gene
P2860
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P2860
22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay
description
2007 nî lūn-bûn
@nan
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
22q13.3 deletion syndrome: a r ...... rked speech and language delay
@ast
22q13.3 deletion syndrome: a r ...... rked speech and language delay
@en
22q13.3 deletion syndrome: a r ...... rked speech and language delay
@nl
type
label
22q13.3 deletion syndrome: a r ...... rked speech and language delay
@ast
22q13.3 deletion syndrome: a r ...... rked speech and language delay
@en
22q13.3 deletion syndrome: a r ...... rked speech and language delay
@nl
prefLabel
22q13.3 deletion syndrome: a r ...... rked speech and language delay
@ast
22q13.3 deletion syndrome: a r ...... rked speech and language delay
@en
22q13.3 deletion syndrome: a r ...... rked speech and language delay
@nl
P2093
P356
P1476
22q13.3 deletion syndrome: a r ...... rked speech and language delay
@en
P2093
H Eugene Hoyme
Kristina Cusmano-Ozog
Melanie A Manning
P356
10.1002/AJMG.C.30155
P407
P577
2007-11-15T00:00:00Z