Literature DB >> 16097003

Chromosome 1q42 deletion and agenesis of the corpus callosum.

Mani J Puthuran, Christopher A Rowland-Hill, J Simpson, Peter W Pairaudeau, Jennifer L Mabbott, Steven M Morris, Yanick J Crow.   

Abstract

Mesh：

Year:  2005        PMID： 16097003     DOI： 10.1002/ajmg.a.30888

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

1.  Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.

Authors:  Nathan Osbun; Jiang Li; Mary C O'Driscoll; Zoe Strominger; Mari Wakahiro; Eric Rider; Polina Bukshpun; Elena Boland; Cailyn H Spurrell; Wendy Schackwitz; Len A Pennacchio; William B Dobyns; Graeme C M Black; Elliott H Sherr
Journal:  Am J Med Genet A       Date:  2011-07-07       Impact factor: 2.802

2.  High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

Authors:  Blake C Ballif; Jill A Rosenfeld; Ryan Traylor; Aaron Theisen; Patricia I Bader; Roger L Ladda; Susan L Sell; Michelle Steinraths; Urvashi Surti; Marianne McGuire; Shelley Williams; Sandra A Farrell; James Filiano; Rhonda E Schnur; Lauren B Coffey; Raymond C Tervo; Tracy Stroud; Michael Marble; Michael Netzloff; Kristen Hanson; Arthur S Aylsworth; J S Bamforth; Deepti Babu; Dmitriy M Niyazov; J Britt Ravnan; Roger A Schultz; Allen N Lamb; Beth S Torchia; Bassem A Bejjani; Lisa G Shaffer
Journal:  Hum Genet       Date:  2011-07-29       Impact factor: 4.132

3.  A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum.

Authors:  Meena Lall; Seema Thakur; Ratna Puri; Ishwar Verma; Mithali Mukerji; Pankaj Jha
Journal:  Mol Cytogenet       Date:  2011-09-21       Impact factor: 2.009

4.  Effects of a Balanced Translocation between Chromosomes 1 and 11 Disrupting the DISC1 Locus on White Matter Integrity.

Authors:  Heather C Whalley; Rali Dimitrova; Emma Sprooten; Maria R Dauvermann; Liana Romaniuk; Barbara Duff; Andrew R Watson; Bill Moorhead; Mark Bastin; Scott I Semple; Stephen Giles; Jeremy Hall; Pippa Thomson; Neil Roberts; Zoe A Hughes; Nick J Brandon; John Dunlop; Brandon Whitcher; Douglas H R Blackwood; Andrew M McIntosh; Stephen M Lawrie
Journal:  PLoS One       Date:  2015-06-23       Impact factor: 3.240

5.  Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

Authors:  Elena Boland; Jill Clayton-Smith; Victoria G Woo; Shane McKee; Forbes D C Manson; Livija Medne; Elaine Zackai; Eric A Swanson; David Fitzpatrick; Kathleen J Millen; Elliott H Sherr; William B Dobyns; Graeme C M Black
Journal:  Am J Hum Genet       Date:  2007-06-13       Impact factor: 11.025

6.  DISC1 genetics, biology and psychiatric illness.

Authors:  Pippa A Thomson; Elise L V Malavasi; Ellen Grünewald; Dinesh C Soares; Malgorzata Borkowska; J Kirsty Millar
Journal:  Front Biol (Beijing)       Date:  2013-02-01
  6 in total

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