Natural history of Williams syndrome: physical characteristics.
about
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genesThe subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3Phosphoserine phosphatase deficiency in a patient with Williams syndrome.Introduction: Williams syndromeACF consists of two subunits, Acf1 and ISWI, that function cooperatively in the ATP-dependent catalysis of chromatin assemblyGenes, language, and the nature of scientific explanations: the case of Williams syndromeWilliams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligaseThe gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletionMolecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growthAdaptive Behavior and Development of Infants and Toddlers with Williams Syndrome.Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndromeIsolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domainsPitch Processing in Children with Williams Syndrome: Relationships between Music and Prosody Skills.The relationship of age, gender, and IQ with the brainstem and thalamus in healthy children and adolescents: a magnetic resonance imaging volumetric studyImaging analysis reveals mechanistic differences between first- and second-phase insulin exocytosis.Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype.Spontaneous and cued gaze-following in autism and Williams syndrome.Do individuals with Williams syndrome possess absolute pitch?Loss of WSTF results in spontaneous fluctuations of heterochromatin formation and resolution, combined with substantial changes to gene expression.VI. Genome structure and cognitive map of Williams syndrome.Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior.Williams-Beuren syndrome: an update and review for the primary physician.Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center.High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder.Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.Prevalence estimation of Williams syndrome.Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome.Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countriesSupravalvular aortic stenosis associated with a deletion disrupting the elastin gene.Discriminating power of localized three-dimensional facial morphology.Williams syndrome: from genotype through to the cognitive phenotype.Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.
P2860
Q22337162-08F0837A-AF77-495C-9AE1-64CFBCC4089AQ24294330-F070CAD5-AB0C-4306-A0D5-6921D784E84FQ24517932-2F36E799-7D4F-4899-946D-C9A6168AE509Q24599604-544EC2E8-6737-499A-89E1-E95474EF1300Q24602406-403102F3-E52A-44AF-A711-28F70EC5FF0CQ24625808-99AFCDF3-EBBB-4AA7-A4E3-6ECF4B285FB9Q24647356-8E61620C-07FD-4913-8CC1-FAE3CFE52B01Q24675247-BA29E53D-6070-4E7E-B8E7-10EB8542DE09Q24675777-E3FEF4E6-C243-4DAB-800E-107ACE71A8D3Q27304784-6B4D9969-D2A6-4333-96CB-E94356F1D43CQ28187660-01AB1B3E-2A18-4CE1-B325-EEC09D22DDA5Q28476782-0545CC58-5830-4AB8-9AB1-3D74D0BC5679Q28505427-D12E8430-4C09-48AF-AE27-84D63D2A97C3Q28655615-98F5A675-8537-460C-B903-327ECCF37D2EQ30469378-3FCAD85B-6638-4A32-8486-3F594FC4155AQ30480445-6481CD93-FC99-4D08-8371-41189C94EF7DQ30543830-10630BCD-4D51-4403-B17A-966F117F4D0CQ30544254-3A237AB7-BCD6-4D4F-9B80-447A24A25002Q30557306-C48F04BB-B971-473E-B1D6-C495F2BF6853Q30560450-F46A78BA-383C-47E5-8245-3F004CD90EC5Q30909238-6AB28718-020F-40B4-880E-8B013467880EQ31143422-8252460D-3B80-4B1D-B624-6C84C296EBB2Q33634325-D5380430-78AB-474B-A8ED-265D81298C9BQ33682418-AC796ADA-2157-40E5-9CC9-A9D821B93945Q33846320-3DD1BAC1-EEEE-45AD-AC11-0FABBA6EBF85Q33902893-01409B96-004B-4F58-92F3-BD19D1D450E7Q33942663-20A9CA79-094E-42A9-A972-6E800F63B820Q33945408-C81BE075-A10F-4C82-92B6-9EC9D8EABD1BQ33959905-F4CC51FB-6A0D-4B3F-B884-3B8069DA592DQ34026535-C7D6B05A-F963-4055-A6EE-04CC0E0373B1Q34120948-5A8D6F85-CC3E-4011-81E0-D412A162BCFFQ34131820-49226873-E6E2-4189-8EB5-1C7CBBB23188Q34137531-3D5E8ABD-82D6-4752-B0DA-D03F9F637CECQ34141678-39C9BF23-CE05-4890-A33A-14A242BD136FQ34192973-B8D8DEB2-8DB3-41F4-ADEB-6C2932971077Q34315324-8EEF5D20-FE18-4ACE-B97B-0CBDDB648199Q34351354-56EDE389-49D2-450C-A0CA-D65CF42B7202Q34388540-2C0C724A-95CE-4A7B-B178-00700E69446FQ34798831-FDD4AC23-C1C1-4E10-B121-337941DA44C1Q35003320-63B696D8-6259-48DB-9D00-6C18F4DD6005
P2860
Natural history of Williams syndrome: physical characteristics.
description
1988 nî lūn-bûn
@nan
1988 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Natural history of Williams syndrome: physical characteristics.
@ast
Natural history of Williams syndrome: physical characteristics.
@en
Natural history of Williams syndrome: physical characteristics.
@nl
type
label
Natural history of Williams syndrome: physical characteristics.
@ast
Natural history of Williams syndrome: physical characteristics.
@en
Natural history of Williams syndrome: physical characteristics.
@nl
prefLabel
Natural history of Williams syndrome: physical characteristics.
@ast
Natural history of Williams syndrome: physical characteristics.
@en
Natural history of Williams syndrome: physical characteristics.
@nl
P2093
P1476
Natural history of Williams syndrome: physical characteristics.
@en
P2093
P304
P356
10.1016/S0022-3476(88)80272-5
P407
P577
1988-08-01T00:00:00Z