Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. - sprookjes - yvandenbroek - TriplyDB

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

http://www.wikidata.org/entity/Q35210607

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 mechanism An 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 epigenetics A 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 duplication New TFII-I family target genes involved in embryonic development.Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation Turner syndrome and the evolution of human sexual dimorphism Genomic sister-disorders of neurodevelopment: an evolutionary approach The 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 Arabia Haploinsufficiency 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 repeats Phenotypic variability and genetic susceptibility to genomic disorders Multiple 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 movements New 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.

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P2860

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

http://www.wikidata.org/entity/Q35210607

description

2003 nî lūn-bûn

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2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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name

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

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Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

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Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

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Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

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Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

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Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

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Human Molecular Genetics

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Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

@en

P2093

Tassabehji M

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P2860

Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1

The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region

Signaling from Rho to the actin cytoskeleton through protein kinases ROCK and LIM-kinase

Identification and characterization of TESK2, a novel member of the LIMK/TESK family of protein kinases, predominantly expressed in testis

WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement

Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo

Purification and characterization of a new eukaryotic protein translation factor. Eukaryotic initiation factor 4H

A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23

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R229-37

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scholarly article

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10.1093/HMG/DDG299

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12 Spec No 2

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2003-09-02T00:00:00Z

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10584965

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12952863

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