Literature DB >> 16275846

Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies.

E H Sherr1, R Owen, D G Albertson, D Pinkel, P D Cotter, A M Slavotinek, S W Hetts, R J Jeremy, G Schilmoeller, K Schilmoeller, M Wakahiro, A J Barkovich.   

Abstract

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.

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Year:  2005        PMID： 16275846     DOI： 10.1212/01.wnl.0000183066.09239.b6

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  14 in total

Review 1.  Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in research.

Authors:  Holly K Tabor; Mildred K Cho
Journal:  Genet Med       Date:  2007-09       Impact factor: 8.822

Review 2.  Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

Authors:  Timothy J Edwards; Elliott H Sherr; A James Barkovich; Linda J Richards
Journal:  Brain       Date:  2014-01-28       Impact factor: 13.501

3.  Autism traits in individuals with agenesis of the corpus callosum.

Authors:  Yolanda C Lau; Leighton B N Hinkley; Polina Bukshpun; Zoe A Strominger; Mari L J Wakahiro; Simon Baron-Cohen; Carrie Allison; Bonnie Auyeung; Rita J Jeremy; Srikantan S Nagarajan; Elliott H Sherr; Elysa J Marco
Journal:  J Autism Dev Disord       Date:  2013-05

4.  Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.

Authors:  R M Hanna; S E Marsh; D Swistun; L Al-Gazali; M S Zaki; G M Abdel-Salam; A Al-Tawari; L Bastaki; H Kayserili; A Rajab; B Boglárka; R B Dietrich; W B Dobyns; C L Truwit; S Sattar; N A Chuang; E H Sherr; J G Gleeson
Journal:  Neurology       Date:  2011-01-25       Impact factor: 11.800

5.  Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Authors:  Margaret J Wat; Oleg A Shchelochkov; Ashley M Holder; Amy M Breman; Aditi Dagli; Carlos Bacino; Fernando Scaglia; Roberto T Zori; Sau Wai Cheung; Daryl A Scott; Sung-Hae Lee Kang
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

6.  Agenesis of the corpus callosum in California 1983-2003: a population-based study.

Authors:  Hannah C Glass; Gary M Shaw; Chen Ma; Elliott H Sherr
Journal:  Am J Med Genet A       Date:  2008-10-01       Impact factor: 2.802

7.  Isolated Chromosome 6q27 Terminal Deletion Syndrome.

Authors:  Sabita Bhatta; Marsha Medows; Yogesh Acharya
Journal:  Cureus       Date:  2020-05-13

8.  Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.

Authors:  Tamim H Shaikh; Chad Haldeman-Englert; Elizabeth A Geiger; Chris P Ponting; Caleb Webber
Journal:  Hum Mol Genet       Date:  2010-12-08       Impact factor: 6.150

9.  Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes.

Authors:  Martin Poot; Alexandra Badea; Robert W Williams; Martien J Kas
Journal:  PLoS One       Date:  2011-05-04       Impact factor: 3.240

Review 10.  Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

Authors:  Sirisha Peddibhotla; Sandesh C S Nagamani; Ayelet Erez; Jill V Hunter; J Lloyd Holder; Mary E Carlin; Patricia I Bader; Helene M F Perras; Judith E Allanson; Leslie Newman; Gayle Simpson; LaDonna Immken; Erin Powell; Aaron Mohanty; Sung-Hae L Kang; Pawel Stankiewicz; Carlos A Bacino; Weimin Bi; Ankita Patel; Sau W Cheung
Journal:  Eur J Hum Genet       Date:  2014-04-16       Impact factor: 4.246
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