Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.
about
Severe expressive-language delay related to duplication of the Williams-Beuren locus.CNV and nervous system diseases--what's new?FKBP36 is an inherent multifunctional glyceraldehyde-3-phosphate dehydrogenase inhibitor.Musical behavior in a neurogenetic developmental disorder: evidence from Williams Syndrome.Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior.Profiling of oxygen-modulated gene expression in early human placenta by systematic sequencing of suppressive subtractive hybridization products.Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanismAn atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.Williams syndrome as a model for elucidation of the pathway genes - the brain - cognitive functions: genetics and epigeneticsA role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.Autism, language delay and mental retardation in a patient with 7q11 duplicationNew TFII-I family target genes involved in embryonic development.Oligonucleotide microarray analysis of genomic imbalance in children with mental retardationTurner syndrome and the evolution of human sexual dimorphismGenomic sister-disorders of neurodevelopment: an evolutionary approachThe contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.Cytogenetics and gene discovery in psychiatric disorders.Solution structure of the general transcription factor 2I domain in mouse TFII-I protein.Genetic aspects of birth defects: new understandings of old problems.Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi ArabiaHaploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders.Failure of neuronal homeostasis results in common neuropsychiatric phenotypes.GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeatsPhenotypic variability and genetic susceptibility to genomic disordersMultiple GTF2I-like repeats of general transcription factor 3 exhibit DNA binding properties. Evidence for a common origin as a sequence-specific DNA interaction module.Williams syndrome and its cognitive profile: the importance of eye movementsNew discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings.The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature.Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development.Biomarkers for genome instability in some genetic disorders: a pilot study.Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.Modulation of carbohydrate response element-binding protein gene expression in 3T3-L1 adipocytes and rat adipose tissue.Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.Williams syndrome: a genetic deletion disorder presenting clues to the biology of sociability and clinical challenges of hypersociability.Variability and standardized test profiles in typically developing children and children with Williams Syndrome.Thyroid function and morphology in patients affected by Williams syndrome.Learning by observation and learning by doing in Down and Williams syndromes.Drawing the line: drawing and construction strategies for simple and complex figures in Williams syndrome and typical development.
P2860
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P2860
Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.
description
2003 nî lūn-bûn
@nan
2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.
@ast
Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.
@en
type
label
Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.
@ast
Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.
@en
prefLabel
Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.
@ast
Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.
@en
P2860
P356
P1476
Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.
@en
P2093
Tassabehji M
P2860
P304
P356
10.1093/HMG/DDG299
P478
12 Spec No 2
P577
2003-09-02T00:00:00Z