A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23 - Wikidata - wikimedia - TriplyDB

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

http://www.wikidata.org/entity/Q34146234

about

Leftward lateralization of auditory cortex underlies holistic sound perception in Williams syndrome High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice.Comprehensive genome sequence analysis of a breast cancer amplicon Uroplakin IIIb, a urothelial differentiation marker, dimerizes with uroplakin Ib as an early step of urothelial plaque assembly Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions Adaptive Behavior and Development of Infants and Toddlers with Williams Syndrome.Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23 Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23 Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease.Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities.Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype.Discovery of Novel Small-Molecule Inhibitors of LIM Domain Kinase for Inhibiting HIV-1 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.Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder.Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11 Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries 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.Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review.Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.Disorders caused by chromosome abnormalities.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.Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome Alterations in diffusion properties of white matter in Williams syndrome.Continuous cognitive dynamics of the evaluation of trustworthiness in williams syndrome Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies.Novel anti-HIV therapeutics targeting chemokine receptors and actin regulatory pathways A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases.A comparison between linguistic skills and socio-communicative abilities in Williams syndrome.Mutational mechanisms of Williams-Beuren syndrome deletions.2012 William Allan Award: Adventures in cytogenetics.

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A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

http://www.wikidata.org/entity/Q34146234

description

2000 nî lūn-bûn

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2000 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2000 թվականի հունվարին հրատարակված գիտական հոդված

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

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A physical map, including a BA ...... me--deletion region at 7q11.23

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American Journal of Human Genetics

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P2860

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

Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes

Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

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

Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23

Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

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10.1086/302722

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1

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