22q13.3 deletion syndrome: clinical and molecular analysis using array CGH - Wikidata - wikimedia - TriplyDB

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

http://www.wikidata.org/entity/Q28274275

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Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3 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.Concise Review: Exciting Cells: Modeling Genetic Epilepsies with Patient-Derived Induced Pluripotent Stem Cells Growth in Phelan-McDermid syndrome Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome Clinical utility gene card for: deletion 22q13 syndrome A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice.Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.Synaptic proteins and receptors defects in autism spectrum disorders Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.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 mice Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission.Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome A pilot study on collective effects of 22q13.31 deletions on gray matter concentration in schizophrenia Protein interactome reveals converging molecular pathways among autism disorders.Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.Adult Phenotypes in Angelman- and Rett-Like Syndromes.Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome.Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma.Autism spectrum disorder in the genetics clinic: a review.Modeling autism by SHANK gene mutations in mice.Autism spectrum disorders: the quest for genetic syndromes.Reciprocal signaling between translational control pathways and synaptic proteins in autism spectrum disorders.Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases.Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy.

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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

http://www.wikidata.org/entity/Q28274275

description

2010 nî lūn-bûn

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2010 թուականի Մարտին հրատարակուած գիտական յօդուած

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2010 թվականի մարտին հրատարակված գիտական հոդված

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2010年の論文

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年學術文章

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name

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

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American Journal of Medical Genetics

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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

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A L Beaudet

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A Patel

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C W Brown

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D del Gaudio

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J A Phillips

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J R German

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M Blazo

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M Irons

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M Williams

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P I Bader

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P2860

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

Contribution of SHANK3 mutations to autism spectrum disorder

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

The Shank family of scaffold proteins

22q13 deletion syndrome

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

FISH-mapping of a 100-kb terminal 22q13 deletion

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573-581

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scholarly article

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10.1002/AJMG.A.33253

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3

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152A

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Jonathan S Berg

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2010-03-01T00:00:00Z

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227757233

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20186804

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3119894

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