Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis. - Wikidata - wikimedia - TriplyDB

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

http://www.wikidata.org/entity/Q35406225

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Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 Characterizing complex structural variation in germline and somatic genomes Meiotic outcomes of three-way translocations ascertained in cleavage-stage embryos: refinement of reproductive risks and implications for PGD.Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.Exceptional complex chromosomal rearrangements in three generations Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.Phenotypic heterogeneity of genomic disorders and rare copy-number variants.Chromosomal catastrophe is a frequent event in clinically insignificant prostate cancer.Reciprocal Translocation Carrier Diagnosis in Preimplantation Human Embryos.Clinical significance of de novo and inherited copy-number variation.The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.Balanced complex chromosome rearrangements: reproductive aspects. A review.Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders

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Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

http://www.wikidata.org/entity/Q35406225

description

2011 nî lūn-bûn

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2011 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2011年の論文

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2011年論文

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Balanced into array: genome-wi ...... rangement and a meta-analysis.

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European Journal of Human Genetics

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Balanced into array: genome-wi ...... rrangement and a meta-analysis

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Bert de Vries

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Birgit Sikkema-Raddatz

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Conny van Ravenswaaij-Arts

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Dorien Lugtenberg

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Ernie Bongers

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Han Brunner

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Helger Yntema

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Ilse Feenstra

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Joke Verheij

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Nicole de Leeuw

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P2860

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

Diagnostic genome profiling in mental retardation.

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1152-1160

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10.1038/EJHG.2011.120

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