Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.
about
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndromeShank3 mutant mice display autistic-like behaviours and striatal dysfunctionThe 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)Contribution of SHANK3 mutations to autism spectrum disorderMolecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptomsSociability and motor functions in Shank1 mutant miceStriatopallidal dysfunction underlies repetitive behavior in Shank3-deficient model of autism.Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Absence of strong strain effects in behavioral analyses of Shank3-deficient miceAutism: a "critical period" disorder?A binding site outside the canonical PDZ domain determines the specific interaction between Shank and SAPAP and their function.Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.Copy number variation in the autism genome.Glutamatergic candidate genes in autism spectrum disorder: an overview.Genomic designation: how genetics can delineate new, phenotypically diffuse medical categories.Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy.Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13).The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders.Autistic disorder and 22q11.2 duplication.No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome.The C/At is out of the bag: a gene for mental illness.A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.Tandem translocation of chromosomes 22 and 15 with two preserved satellite stalk regions and deletion 22q13.3-qter.Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
P2860
Q24535749-84DA7BC2-88C4-41E4-8E90-CF268A2DEBDBQ24597501-E2A50C34-EE95-40C9-B7E0-804B87A059F6Q24612792-C0528E72-F8AD-449A-AA2E-8AD0A9E1F11FQ24648672-0C9B19AB-A5B1-4D74-889C-D8A25023EEDEQ24676539-AE6BD15A-8CBC-4D21-93D2-1277EF2FE844Q28592494-7C51246B-71A1-4F2D-BB90-26E7059EF771Q30008746-0C0129B3-BD78-464A-B502-18102E1DF677Q30009184-652E2CC9-B14A-464D-9075-F9B2551C1999Q30010108-7E0119AC-675A-4FFC-B5A7-EF1DC8AC42F2Q30235312-1969D30C-1DB4-4BBB-8A11-0404F71195FCQ30435402-8E5BCBFC-EE08-4AF4-9DBE-A324ED1F2726Q35147366-5E8C7F21-8281-4AE7-AE11-79063F5BFE80Q36978168-0FCF377D-7C18-4031-94BF-88332C7CA778Q37001013-0006E43A-48E6-4524-8E2E-35B19F267556Q38089746-B1245089-3D44-425E-BAF9-48DFB5C9BD11Q38184927-272F143C-5D03-4778-8795-15DAC1AEE75FQ39697544-B5B4C039-D3FA-4793-BBF0-2BE9448CD85CQ40043980-202F6A74-BB0B-4C62-A15B-584147A48287Q41923837-3EE8FE0D-8719-4CB7-A6B1-EA65CE7D3090Q46898110-DD922D7D-DA3C-4FC6-A567-CC4B74D72267Q50313803-173CBD5D-AF4D-4981-8AB8-C0BEBF517FF0Q51957535-E501E329-A02A-4AE2-950D-5CE11DC48853Q51958677-A46ECF01-CCCD-4AD7-84BA-AE70E66F5728Q51970717-8FDAA6AA-76D4-4768-9F89-38CCDEEB8351Q52126263-A8D9ECBE-2A94-48CD-A42A-C25B850C133CQ53059336-AED92695-1660-457E-8715-97D0F1CD4F72
P2860
Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
@yue
2000年學術文章
@zh-hant
name
Genetic evaluation of pervasiv ...... sent a recognizable phenotype.
@en
Genetic evaluation of pervasiv ...... sent a recognizable phenotype.
@nl
type
label
Genetic evaluation of pervasiv ...... sent a recognizable phenotype.
@en
Genetic evaluation of pervasiv ...... sent a recognizable phenotype.
@nl
prefLabel
Genetic evaluation of pervasiv ...... sent a recognizable phenotype.
@en
Genetic evaluation of pervasiv ...... sent a recognizable phenotype.
@nl
P2093
P2860
P1433
P1476
Genetic evaluation of pervasiv ...... sent a recognizable phenotype.
@en
P2093
Chodirker BN
Chudley AE
Jocelyn LJ
P2860
P304
P356
10.1034/J.1399-0004.2000.570203.X
P577
2000-02-01T00:00:00Z