Understanding the impact of 1q21.1 copy number variant - sprookjes - yvandenbroek - TriplyDB

Understanding the impact of 1q21.1 copy number variant

Understanding the impact of 1q21.1 copy number variant

http://www.wikidata.org/entity/Q21202865

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Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements Diseases associated with defective responses to DNA damage Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).The genetic variability and commonality of neurodevelopmental disease.High-resolution copy number variation analysis of schizophrenia in Japan.The genetics of microdeletion and microduplication syndromes: an update.Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens 1q21.1 Microduplication expression in adults.The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.The impact of chromosomal rearrangements on regulation of gene expression.Challenging behaviour in a patient with schizophrenia and a 1q21.1 duplication Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications.Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series CHD1L Expression Increases Tumor Progression and Acts as a Predictive Biomarker for Poor Prognosis in Pancreatic Cancer.Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic.The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.Performance comparison of Affymetrix SNP6.0 and cytogenetic 2.7M whole-genome microarrays in complex cancer samples.Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility Whole exome sequencing of families with 1q21.1 microdeletion or microduplication

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Understanding the impact of 1q21.1 copy number variant

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2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

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Understanding the impact of 1q21.1 copy number variant

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Understanding the impact of 1q21.1 copy number variant

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Understanding the impact of 1q21.1 copy number variant

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Understanding the impact of 1q21.1 copy number variant

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Understanding the impact of 1q21.1 copy number variant

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Understanding the impact of 1q21.1 copy number variant

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Understanding the impact of 1q21.1 copy number variant

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Orphanet Journal of Rare Diseases

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Understanding the impact of 1q21.1 copy number variant

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Angelika J Dawson

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Aziz Mhanni

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Barbara McGillivray

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Chansonette Harvard

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Christine Tyson

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Eva Chow

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Jeanette J Holden

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BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

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

mTOR interacts with raptor to form a nutrient-sensitive complex that signals to the cell growth machinery

Poly(ADP-ribose)-dependent regulation of DNA repair by the chromatin remodeling enzyme ALC1

AMPK in the brain: its roles in energy balance and neuroprotection

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

Large recurrent microdeletions associated with schizophrenia

Poly(ADP-ribosyl)ation directs recruitment and activation of an ATP-dependent chromatin remodeler

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

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Evica Rajcan-Separovic

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51554839

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