Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. - Wikidata - awgldk - TriplyDB

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.

http://www.wikidata.org/entity/Q42217484

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Rare chromosomal deletions and duplications increase risk of schizophrenia MAP'ing CNS development and cognition: an ERKsome process Detailed analysis of 22q11.2 with a high density MLPA probe set Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns Chromosomal translocations and palindromic AT-rich repeats Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development Characterization of the past and current duplication activities in the human 22q11.2 region Deletion of ERK2 mitogen-activated protein kinase identifies its key roles in cortical neurogenesis and cognitive function.A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Trigenic neural crest-restricted Smad7 over-expression results in congenital craniofacial and cardiovascular defects.Genome-wide signatures of 'rearrangement hotspots' within segmental duplications in humans.Interactions between age, stress and insulin on cognition: implications for Alzheimer's disease Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor.Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families Transcriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder Complexity of a small non-protein coding sequence in chromosomal region 22q11.2: presence of specialized DNA secondary structures and RNA exon/intron motifs.Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications.Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities.22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization.Schizophrenia Spectrum Disorders in a Danish 22q11.2 Deletion Syndrome Cohort Compared to the Total Danish Population--A Nationwide Register Study.Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.Conditional Knockout of Breast Carcinoma Amplified Sequence 2 (BCAS2) in Mouse Forebrain Causes Dendritic Malformation via β-catenin.The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan.The clinical context of copy number variation in the human genome.Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.Characterization of chromosomal translocation breakpoint sequences in solid tumours: "an in silico analysis".Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH.Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children.The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.

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Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.

http://www.wikidata.org/entity/Q42217484

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2007 nî lūn-bûn

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2007年の論文

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Low copy repeats mediate dista ...... redicts breakpoint mechanisms.

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Low copy repeats mediate dista ...... redicts breakpoint mechanisms.

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Low copy repeats mediate dista ...... redicts breakpoint mechanisms.

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Low copy repeats mediate dista ...... redicts breakpoint mechanisms.

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Low copy repeats mediate dista ...... redicts breakpoint mechanisms.

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Low copy repeats mediate dista ...... redicts breakpoint mechanisms.

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Low copy repeats mediate dista ...... redicts breakpoint mechanisms.

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Beverly S Emanuel

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Elizabeth Geiger

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James McGrath

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Manjunath Nimmakayalu

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Mary Ella Pierpont

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Ronald J O'Connor

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Sulagna C Saitta

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Tamim H Shaikh

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P2860

Mfold web server for nucleic acid folding and hybridization prediction

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays.

Genomic disorders on 22q11

Origins of chromosomal rearrangement hotspots in the human genome: evidence from the AZFa deletion hotspots

Basic local alignment search tool

A common molecular basis for rearrangement disorders on chromosome 22q11

Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombination

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

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