Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies
Absence of the corpus callosum is often associated with cognitive deficits, autism, and epilepsy. Using a genomic microarray, the authors analyzed DNA from 25 patients with radiographically confirmed callosal anomalies and identified three patients with de novo copy number changes in chromosome regi...
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| Veröffentlicht in: | Neurology 2005-11, Vol.65 (9), p.1496-1498 |
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| creator | SHERR, E. H OWEN, R WAKAHIRO, M BARKOVICH, A. J ALBERTSON, D. G PINKEL, D COTTER, P. D SLAVOTINEK, A. M HETTS, S. W JEREMY, R. J SCHILMOELLER, G SCHILMOELLER, K |
| description | Absence of the corpus callosum is often associated with cognitive deficits, autism, and epilepsy. Using a genomic microarray, the authors analyzed DNA from 25 patients with radiographically confirmed callosal anomalies and identified three patients with de novo copy number changes in chromosome regions 2q37, 6qter, and 8p. Chromosomal deletions and duplications may be a relatively common cause of cerebral malformations. |
| doi_str_mv | 10.1212/01.wnl.0000183066.09239.b6 |
| format | Article |
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H ; OWEN, R ; WAKAHIRO, M ; BARKOVICH, A. J ; ALBERTSON, D. G ; PINKEL, D ; COTTER, P. D ; SLAVOTINEK, A. M ; HETTS, S. W ; JEREMY, R. J ; SCHILMOELLER, G ; SCHILMOELLER, K</creator><creatorcontrib>SHERR, E. H ; OWEN, R ; WAKAHIRO, M ; BARKOVICH, A. J ; ALBERTSON, D. G ; PINKEL, D ; COTTER, P. D ; SLAVOTINEK, A. M ; HETTS, S. W ; JEREMY, R. J ; SCHILMOELLER, G ; SCHILMOELLER, K</creatorcontrib><description>Absence of the corpus callosum is often associated with cognitive deficits, autism, and epilepsy. Using a genomic microarray, the authors analyzed DNA from 25 patients with radiographically confirmed callosal anomalies and identified three patients with de novo copy number changes in chromosome regions 2q37, 6qter, and 8p. Chromosomal deletions and duplications may be a relatively common cause of cerebral malformations.</description><identifier>ISSN: 0028-3878</identifier><identifier>EISSN: 1526-632X</identifier><identifier>DOI: 10.1212/01.wnl.0000183066.09239.b6</identifier><identifier>PMID: 16275846</identifier><identifier>CODEN: NEURAI</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins</publisher><subject>Agenesis of Corpus Callosum ; Biological and medical sciences ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 2 - genetics ; Chromosomes, Human, Pair 6 - genetics ; Chromosomes, Human, Pair 8 - genetics ; Corpus Callosum - physiopathology ; DNA - analysis ; DNA - genetics ; DNA Mutational Analysis ; Female ; Gene Dosage ; Gene Duplication ; Genetic Predisposition to Disease - genetics ; Genetic Testing ; Genomic Library ; Humans ; Injuries of the nervous system and the skull. Diseases due to physical agents ; Male ; Medical sciences ; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis ; Mutation - genetics ; Nervous System Malformations - complications ; Nervous System Malformations - genetics ; Neurology ; Oligonucleotide Array Sequence Analysis ; Prospective Studies ; Traumas. Diseases due to physical agents</subject><ispartof>Neurology, 2005-11, Vol.65 (9), p.1496-1498</ispartof><rights>2006 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c347t-9990aabdd3ef130de92fa0c5204ad8789aed76ca37035ffe3ec1598118ea5f893</citedby><cites>FETCH-LOGICAL-c347t-9990aabdd3ef130de92fa0c5204ad8789aed76ca37035ffe3ec1598118ea5f893</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,27929,27930</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17253061$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16275846$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>SHERR, E. H</creatorcontrib><creatorcontrib>OWEN, R</creatorcontrib><creatorcontrib>WAKAHIRO, M</creatorcontrib><creatorcontrib>BARKOVICH, A. J</creatorcontrib><creatorcontrib>ALBERTSON, D. G</creatorcontrib><creatorcontrib>PINKEL, D</creatorcontrib><creatorcontrib>COTTER, P. D</creatorcontrib><creatorcontrib>SLAVOTINEK, A. M</creatorcontrib><creatorcontrib>HETTS, S. W</creatorcontrib><creatorcontrib>JEREMY, R. J</creatorcontrib><creatorcontrib>SCHILMOELLER, G</creatorcontrib><creatorcontrib>SCHILMOELLER, K</creatorcontrib><title>Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies</title><title>Neurology</title><addtitle>Neurology</addtitle><description>Absence of the corpus callosum is often associated with cognitive deficits, autism, and epilepsy. Using a genomic microarray, the authors analyzed DNA from 25 patients with radiographically confirmed callosal anomalies and identified three patients with de novo copy number changes in chromosome regions 2q37, 6qter, and 8p. Chromosomal deletions and duplications may be a relatively common cause of cerebral malformations.</description><subject>Agenesis of Corpus Callosum</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 2 - genetics</subject><subject>Chromosomes, Human, Pair 6 - genetics</subject><subject>Chromosomes, Human, Pair 8 - genetics</subject><subject>Corpus Callosum - physiopathology</subject><subject>DNA - analysis</subject><subject>DNA - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Gene Dosage</subject><subject>Gene Duplication</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genetic Testing</subject><subject>Genomic Library</subject><subject>Humans</subject><subject>Injuries of the nervous system and the skull. Diseases due to physical agents</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis</subject><subject>Mutation - genetics</subject><subject>Nervous System Malformations - complications</subject><subject>Nervous System Malformations - genetics</subject><subject>Neurology</subject><subject>Oligonucleotide Array Sequence Analysis</subject><subject>Prospective Studies</subject><subject>Traumas. Diseases due to physical agents</subject><issn>0028-3878</issn><issn>1526-632X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkEtrGzEURkVJaJy0f6GIQrKbiR4ePbILJnEKhm5a6E69owdV0cy40gzB_75yYrBAaKHzfZd7EPpKSUsZZfeEtq9jakk9VHEiREs047rtxQe0oh0TjeDs1wVaEcJUw5VUV-i6lL8V75jUH9EVFUx2ai1W6PfWj9MQLa43T5AzHDCMkA4lFhydH-cYoi_Ywuiig9njNNmI44j3MMf6XfBrnP9gO-X9csRSmsoy1I5pgFSTn9BlgFT859N7g34-P_3YvDS779tvm8ddY_lazo3WmgD0znEfKCfOaxaA2I6RNbi6gQbvpLDAJeFdCJ57SzutKFUeuqA0v0F37737PP1bfJnNEIv1KcHop6UYoaSkUh_Bh3ew7ltK9sHscxwgHwwl5ujXEGqqX3P2a978ml7U8JfTlKUfvDtHT0IrcHsCoFQZIcNoYzlzknW1kfL_xiyHXw</recordid><startdate>20051108</startdate><enddate>20051108</enddate><creator>SHERR, E. H</creator><creator>OWEN, R</creator><creator>WAKAHIRO, M</creator><creator>BARKOVICH, A. J</creator><creator>ALBERTSON, D. G</creator><creator>PINKEL, D</creator><creator>COTTER, P. D</creator><creator>SLAVOTINEK, A. M</creator><creator>HETTS, S. W</creator><creator>JEREMY, R. J</creator><creator>SCHILMOELLER, G</creator><creator>SCHILMOELLER, K</creator><general>Lippincott Williams & Wilkins</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20051108</creationdate><title>Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies</title><author>SHERR, E. H ; OWEN, R ; WAKAHIRO, M ; BARKOVICH, A. J ; ALBERTSON, D. G ; PINKEL, D ; COTTER, P. D ; SLAVOTINEK, A. M ; HETTS, S. W ; JEREMY, R. 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Diseases due to physical agents</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis</topic><topic>Mutation - genetics</topic><topic>Nervous System Malformations - complications</topic><topic>Nervous System Malformations - genetics</topic><topic>Neurology</topic><topic>Oligonucleotide Array Sequence Analysis</topic><topic>Prospective Studies</topic><topic>Traumas. Diseases due to physical agents</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>SHERR, E. H</creatorcontrib><creatorcontrib>OWEN, R</creatorcontrib><creatorcontrib>WAKAHIRO, M</creatorcontrib><creatorcontrib>BARKOVICH, A. J</creatorcontrib><creatorcontrib>ALBERTSON, D. G</creatorcontrib><creatorcontrib>PINKEL, D</creatorcontrib><creatorcontrib>COTTER, P. D</creatorcontrib><creatorcontrib>SLAVOTINEK, A. M</creatorcontrib><creatorcontrib>HETTS, S. 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| subjects | Agenesis of Corpus Callosum Biological and medical sciences Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 2 - genetics Chromosomes, Human, Pair 6 - genetics Chromosomes, Human, Pair 8 - genetics Corpus Callosum - physiopathology DNA - analysis DNA - genetics DNA Mutational Analysis Female Gene Dosage Gene Duplication Genetic Predisposition to Disease - genetics Genetic Testing Genomic Library Humans Injuries of the nervous system and the skull. Diseases due to physical agents Male Medical sciences Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis Mutation - genetics Nervous System Malformations - complications Nervous System Malformations - genetics Neurology Oligonucleotide Array Sequence Analysis Prospective Studies Traumas. Diseases due to physical agents |
| title | Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies |
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