Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.
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Rare chromosomal deletions and duplications increase risk of schizophreniaMAP'ing CNS development and cognition: an ERKsome processDetailed analysis of 22q11.2 with a high density MLPA probe setClinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsChromosomal translocations and palindromic AT-rich repeatsModeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit developmentChimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiencyMouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest developmentCharacterization of the past and current duplication activities in the human 22q11.2 regionDeletion 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 reviewMolecular mechanisms and diagnosis of chromosome 22q11.2 rearrangementsA de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndromeFrom 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 diseaseGenetic 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 familiesTranscriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum DisorderComplexity 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 syndromeIdentification 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.
P2860
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P2860
Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Low copy repeats mediate dista ...... redicts breakpoint mechanisms.
@en
Low copy repeats mediate dista ...... redicts breakpoint mechanisms.
@nl
type
label
Low copy repeats mediate dista ...... redicts breakpoint mechanisms.
@en
Low copy repeats mediate dista ...... redicts breakpoint mechanisms.
@nl
prefLabel
Low copy repeats mediate dista ...... redicts breakpoint mechanisms.
@en
Low copy repeats mediate dista ...... redicts breakpoint mechanisms.
@nl
P2093
P2860
P356
P1433
P1476
Low copy repeats mediate dista ...... redicts breakpoint mechanisms.
@en
P2093
April M Hacker
Beverly S Emanuel
Elizabeth Geiger
James McGrath
Manjunath Nimmakayalu
Mary Ella Pierpont
Ronald J O'Connor
Sulagna C Saitta
Tamim H Shaikh
P2860
P304
P356
10.1101/GR.5986507
P577
2007-03-09T00:00:00Z