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10.1146/annurev-genom-091212-153408 http://scihub22266oqcxt.onion/10.1146/annurev-genom-091212-153408 C4476258!4476258!24773319     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Annu+Rev+Genomics+Hum+Genet 2014 ; 15 (ä): 215-44 Nephropedia Template TP {{tp|p=24773319|t=2014. The Genetics of Microdeletion and Microduplication Syndromes: An Update |pdf=|usr=}}{{24773319}} gab.com Text The Genetics of Microdeletion and Microduplication Syndromes: An Update JO: Annu Rev Genomics Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=24773319 #FOAvip Chromosomal abnormalities, including microdeletions and microduplications, have long been associated with abnormal developmental outcomes. Early discoveries relied on a common clinical presentation and the ability to detect chromosomal abnormalities by standard karyotype analysis or specific assays such as fluorescence in situ hybridization. Over the past decade, the development of novel genomic technologies has allowed more comprehensive, unbiased discovery of microdeletions and microduplications throughout the human genome. The ability to quickly interrogate large cohorts using chromosome microarrays and, more recently, next-generation sequencing has led to the rapid discovery of novel microdeletions and microduplications associated with disease, including very rare but clinically significant rearrangements. In addition, the observation that some microdeletions are associated with risk for several neurodevelopmental disorders contributes to our understanding of shared genetic susceptibility for such disorders. Here, we review current knowledge of microdeletion/duplication syndromes, with a particular focus on recurrent rearrangement syndromes. Twit Text FOAVip The Genetics of Microdeletion and Microduplication Syndromes: An Update ????Annu Rev Genomics Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=24773319 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24773319 #FOAvip English Wikipedia <ref>{{Cite pmid|24773319}}</ref> The Genetics of Microdeletion and Microduplication Syndromes: An Update #MMPMID24773319 Watson CT; Marques-Bonet T; Sharp AJ; Mefford HC Annu Rev Genomics Hum Genet 2014[]; 15 (ä): 215-44 PMID24773319show ga Chromosomal abnormalities, including microdeletions and microduplications, have long been associated with abnormal developmental outcomes. Early discoveries relied on a common clinical presentation and the ability to detect chromosomal abnormalities by standard karyotype analysis or specific assays such as fluorescence in situ hybridization. Over the past decade, the development of novel genomic technologies has allowed more comprehensive, unbiased discovery of microdeletions and microduplications throughout the human genome. The ability to quickly interrogate large cohorts using chromosome microarrays and, more recently, next-generation sequencing has led to the rapid discovery of novel microdeletions and microduplications associated with disease, including very rare but clinically significant rearrangements. In addition, the observation that some microdeletions are associated with risk for several neurodevelopmental disorders contributes to our understanding of shared genetic susceptibility for such disorders. Here, we review current knowledge of microdeletion/duplication syndromes, with a particular focus on recurrent rearrangement syndromes. äThe Genetics of Microdeletion and Microduplication Syndromes: An Updat(epmc).pdf DeepDyve Pubget Overpricing