Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

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http://www.wikidata.org/entity/Q24675632

Q24675632

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BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1 DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation Further characterization of microdeletion syndrome involving 2p15-p16.1 Clinical and molecular delineation of the 17q21.31 microdeletion syndrome Strong association of de novo copy number mutations with autism DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources Current developments in the genetics of autism: from phenome to genome Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology Global variation in copy number in the human genome Application of array-based comparative genomic hybridization to clinical diagnostics SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data A method for accurate detection of genomic microdeletions using real-time quantitative PCR.Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability 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 Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Gene-disease relationship discovery based on model-driven data integration and database view definition Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH.Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes.Assessing the significance of conserved genomic aberrations using high resolution genomic microarrays.X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach Comparative genomic hybridization: microarray design and data interpretation.Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.Segmental duplication as one of the driving forces underlying the diversity of the human immunoglobulin heavy chain variable gene region Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability.Empirical Bayesian models for analysing molecular serotyping microarrays.Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.Long-range control of gene expression: emerging mechanisms and disruption in disease.Review of genetic factors in intestinal malrotation.Copy number variation in human health, disease, and evolution.The role of rare structural variants in the genetics of autism spectrum disorders.

P2860

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P2860

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

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http://www.wikidata.org/entity/Q24675632

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2004 nî lūn-bûn

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2004年の論文

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