From microscopes to microarrays: dissecting recurrent chromosomal rearrangements. - sprookjes - yvandenbroek - TriplyDB

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.

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CNV and nervous system diseases--what's new?Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.Whole genome comparative studies between chicken and turkey and their implications for avian genome evolution.Functional copy-number alterations in cancer.Molecular cytogenetics and cytogenomics of brain diseases.Comparative genomics in chicken and Pekin duck using FISH mapping and microarray analysis.Human interphase chromosomes: a review of available molecular cytogenetic technologies.Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia The effect of translocation-induced nuclear reorganization on gene expression.High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?Molecular cytogenetic diagnosis and somatic genome variations.Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication A model of binding on DNA microarrays: understanding the combined effect of probe synthesis failure, cross-hybridization, DNA fragmentation and other experimental details of affymetrix arrays.Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications.Genomic sister-disorders of neurodevelopment: an evolutionary approach Mechanisms for human genomic rearrangements A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA Copy number variants (CNVs) in primate species using array-based comparative genomic hybridization.The clinical context of copy number variation in the human genome.Applying gene expression microarrays to pulmonary disease.The complexity of prostate cancer: genomic alterations and heterogeneity.The HemeScan test for genomic prognostic marker assessment in chronic lymphocytic leukemia.Concurrent psu dic(21)(q22.3) and t(13;17)(q14.1;p12) in a mosaic Down's syndrome patient: review of thirty-one similar dicentrics.Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Global patterns of apparent copy number variation in birds revealed by cross-species comparative genomic hybridization.Order Matters: The Order of Somatic Mutations Influences Cancer Evolution.Identification of KANSARL as the first cancer predisposition fusion gene specific to the population of European ancestry origin.Reduced levels of DNA polymerase delta induce chromosome fragile site instability in yeast.Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.Partial duplication of chromosome 19 associated with syndromic duane retraction syndrome.Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.Insights into the origin of the high variability of multivalent-meiotic associations in holocentric chromosomes of Tityus (Archaeotityus) scorpions.Animal models may help fractionate shared and discrete pathways underpinning schizophrenia and autism

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P2860

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.

http://www.wikidata.org/entity/Q33805828

description

2007 nî lūn-bûn

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2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2007 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.

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From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.

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From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.

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From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.

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From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.

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From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.

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Nature Reviews Genetics

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From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.

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Beverly S Emanuel

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Sulagna C Saitta

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P2860

Structural variation in the human genome

Fine-scale structural variation of the human genome

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

Role of TBX1 in human del22q11.2 syndrome

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Microduplication and triplication of 22q11.2: a highly variable syndrome.

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons

Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control

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869-883

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10.1038/NRG2136

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11

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8

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