Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
about
Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communicationDeletion 22q13.3 syndromeQuadruplex DNA: sequence, topology and structureImportance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapsesMutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disordersSynaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3Shank3 mutant mice display autistic-like behaviours and striatal dysfunctionThe 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)Multiple rare variants in the etiology of autism spectrum disordersCellular and synaptic network defects in autismTherapeutic approaches for shankopathiesInterstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromePhelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring22q13.3 deletion syndrome: clinical and molecular analysis using array CGHClinical utility gene card for: deletion 22q13 syndromeClinical and genomic evaluation of 201 patients with Phelan-McDermid syndromeCNVs leading to fusion transcripts in individuals with autism spectrum disorderStriatopallidal dysfunction underlies repetitive behavior in Shank3-deficient model of autism.Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3.Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice.Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?Altered Striatal Synaptic Function and Abnormal Behaviour in Shank3 Exon4-9 Deletion Mouse Model of AutismAbsence of strong strain effects in behavioral analyses of Shank3-deficient micePre-clinical models of neurodevelopmental disorders: focus on the cerebellumLoss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission.SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.Studying autism in rodent models: reconciling endophenotypes with comorbiditiesAnnual Research Review: Transgenic mouse models of childhood-onset psychiatric disorders.Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.Selection for the G4 DNA motif at the 5' end of human genesMolecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.The role of rare structural variants in the genetics of autism spectrum disorders.Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndromeSynaptic signaling and aberrant RNA splicing in autism spectrum disordersA Novel Stratification Method in Linkage Studies to Address Inter- and Intra-Family Heterogeneity in AutismDiverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathwaysHuman subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders.
P2860
Q21198697-ACD0C17C-D24A-4A0C-A927-E08C85FFC79EQ21202915-C60E625C-5F6E-458B-B143-FD1A7328EE4FQ22065978-FAD7A8A2-0534-4481-9D51-EDCDE5299F60Q24317227-DC19F36E-E4F7-464E-AB1B-734F1380923BQ24337114-233557D6-240B-488B-ABFC-24EDCA877CCEQ24596677-3DE55541-BB34-456B-AE53-06638FEF8DC1Q24597501-6A8C28FF-C1F0-4704-B4B9-FD78FC519023Q24612792-03A1DC51-0239-4307-AA42-6E969748AFF1Q24635522-9CB57F40-D8E2-4191-9F27-9E579425A4A0Q26864843-BEDE2345-385F-429E-80E3-5A5E72FD3F06Q27024976-83F75486-3EE6-4381-B5C0-E5B8F323E0CAQ28237432-C8D1B930-CE10-4CAE-8000-8912CB9683FDQ28259043-AB8A608D-D4B9-43E8-9A7D-DA8990845558Q28274275-513C1091-D3ED-40C3-9AF5-D7D8B639A2D3Q28300606-26ED4A96-13BF-48CC-AA4D-A1E8A1E8B266Q28306951-9DA342EE-527B-421D-9E63-038D16A3006DQ28716605-130BE18C-C947-4436-9358-36C163599D69Q30008746-E8137C78-30CC-4D9D-B239-ADEF5F4187CFQ30008762-70FC2D9D-5363-4A8D-A23B-E1FD8656B315Q30009142-07AE02BD-6A57-4ECD-8060-DE569F25F7E5Q30010108-407AC42E-FB91-4E72-B7FC-7D8941C92D47Q30362074-173189E1-9954-4E26-B6E9-11A2BDFDCB50Q30435402-2907D8DC-F08D-433A-8D6C-7263C2773793Q30436913-FD9C428B-47F8-4D80-ABC4-E75E41B76BECQ30438299-6ED5971F-D63D-4C5D-8623-82C7C473003FQ30438816-F72A3100-DF84-46D9-9402-752CB12C70DDQ30451745-485B9101-B265-4A91-AFD0-9EECC8D1E9E7Q30469044-039865EB-F098-408C-A83F-B0A2A3B21CDAQ30472505-998A9C44-7419-4C06-ADA4-E7F82BC29FC8Q33884294-04C7124F-C359-466A-BA2E-969139B49C44Q33967982-E98A2472-EA4D-48FC-96BA-45E32B4F05E7Q34060416-2975BD06-4D8F-4B25-9018-672D1F65D866Q34257185-F63E153C-F390-4E95-98CE-414E6AAF4067Q34462975-0A1FCA4F-6C49-49BC-AED9-AC65CB04CEF8Q34689268-B02E0D1A-BEC6-4361-A26B-18F5E74E8F4CQ34807703-9428C2C9-4F3C-4371-8DAA-ED1A43F10965Q35200158-CEEE3E53-CAD4-49A1-A38D-5DC8EBCDE414Q36083120-0ED43297-8072-4748-A16E-E13AEA676235Q36385065-05CE8A48-2CB2-44C3-AF35-FE72B0D4EADFQ36443002-50960F85-ABB2-4B11-823D-719AE13F21A4
P2860
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
description
2006 nî lūn-bûn
@nan
2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Identification of a recurrent ...... the 22q13.3 deletion syndrome
@ast
Identification of a recurrent ...... the 22q13.3 deletion syndrome
@en
Identification of a recurrent ...... the 22q13.3 deletion syndrome
@nl
type
label
Identification of a recurrent ...... the 22q13.3 deletion syndrome
@ast
Identification of a recurrent ...... the 22q13.3 deletion syndrome
@en
Identification of a recurrent ...... the 22q13.3 deletion syndrome
@nl
prefLabel
Identification of a recurrent ...... the 22q13.3 deletion syndrome
@ast
Identification of a recurrent ...... the 22q13.3 deletion syndrome
@en
Identification of a recurrent ...... the 22q13.3 deletion syndrome
@nl
P2093
P2860
P356
P1476
Identification of a recurrent ...... the 22q13.3 deletion syndrome
@en
P2093
A Baroncini
B-M Anderlid
M C Bonaglia
O Zuffardi
T Pramparo
P2860
P356
10.1136/JMG.2005.038604
P407
P577
2006-10-01T00:00:00Z