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Items: 1 to 20 of 115

1.

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

Osbun N, Li J, O'Driscoll MC, Strominger Z, Wakahiro M, Rider E, Bukshpun P, Boland E, Spurrell CH, Schackwitz W, Pennacchio LA, Dobyns WB, Black GC, Sherr EH.

Am J Med Genet A. 2011 Aug;155A(8):1865-76. doi: 10.1002/ajmg.a.34081. Epub 2011 Jul 7.

PMID:
21739582
2.

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.

Filges I, Röthlisberger B, Boesch N, Weber P, Wenzel F, Huber AR, Heinimann K, Miny P.

Am J Med Genet A. 2010 Apr;152A(4):987-93. doi: 10.1002/ajmg.a.33330.

PMID:
20358614
3.

The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.

Laclef C, Anselme I, Besse L, Catala M, Palmyre A, Baas D, Paschaki M, Pedraza M, Métin C, Durand B, Schneider-Maunoury S.

Hum Mol Genet. 2015 Sep 1;24(17):4997-5014. doi: 10.1093/hmg/ddv221. Epub 2015 Jun 12.

PMID:
26071364
4.

Human brain imaging studies of DISC1 in schizophrenia, bipolar disorder and depression: a systematic review.

Duff BJ, Macritchie KA, Moorhead TW, Lawrie SM, Blackwood DH.

Schizophr Res. 2013 Jun;147(1):1-13. doi: 10.1016/j.schres.2013.03.015. Epub 2013 Apr 16. Review.

PMID:
23602339
5.

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tönnies H, van 't Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M.

Eur J Med Genet. 2010 Jul-Aug;53(4):179-85. doi: 10.1016/j.ejmg.2010.04.001. Epub 2010 Apr 9.

PMID:
20382278
7.

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

Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC.

Am J Hum Genet. 2007 Aug;81(2):292-303. Epub 2007 Jun 13.

8.
9.

Morphometric variability of neuroimaging features in children with agenesis of the corpus callosum.

Neal JB, Filippi CG, Mayeux R.

BMC Neurol. 2015 Jul 25;15:116. doi: 10.1186/s12883-015-0382-5.

10.

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.

Dhamija R, Graham JM Jr, Smaoui N, Thorland E, Kirmani S.

Eur J Med Genet. 2014 Mar;57(4):181-4. doi: 10.1016/j.ejmg.2014.02.009. Epub 2014 Feb 27.

PMID:
24583203
11.

A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis.

Andrieux J, Cuvellier JC, Duban-Bedu B, Joriot-Chekaf S, Dieux-Coeslier A, Manouvrier-Hanu S, Delobel B, Vallee L.

Eur J Med Genet. 2008 Jan-Feb;51(1):87-91. Epub 2007 Oct 22.

PMID:
18053786
12.

Structural connectivity analysis reveals abnormal brain connections in agenesis of the corpus callosum in children.

Meoded A, Katipally R, Bosemani T, Huisman TA, Poretti A.

Eur Radiol. 2015 May;25(5):1471-8. doi: 10.1007/s00330-014-3541-y. Epub 2014 Dec 6.

PMID:
25477275
13.

Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder.

Hodgkinson CA, Goldman D, Jaeger J, Persaud S, Kane JM, Lipsky RH, Malhotra AK.

Am J Hum Genet. 2004 Nov;75(5):862-72. Epub 2004 Sep 22.

14.

Cloning and characterization of Disc1, the mouse ortholog of DISC1 (Disrupted-in-Schizophrenia 1).

Ma L, Liu Y, Ky B, Shughrue PJ, Austin CP, Morris JA.

Genomics. 2002 Dec;80(6):662-72.

PMID:
12504857
15.

Behavior and corpus callosum morphology relationships in velocardiofacial syndrome (22q11.2 deletion syndrome).

Antshel KM, Conchelos J, Lanzetta G, Fremont W, Kates WR.

Psychiatry Res. 2005 Apr 30;138(3):235-45.

PMID:
15854791
16.

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.

Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, Björkhem I, Sivan S, Birk OS.

Eur J Hum Genet. 2011 Sep;19(9):942-6. doi: 10.1038/ejhg.2011.74. Epub 2011 May 11.

17.

Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.

Am J Med Genet A. 2008 Oct 1;146A(19):2501-11. doi: 10.1002/ajmg.a.32476.

18.

A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.

Hill AD, Chang BS, Hill RS, Garraway LA, Bodell A, Sellers WR, Walsh CA.

Am J Med Genet A. 2007 Aug 1;143A(15):1692-8.

PMID:
17603806
19.

A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder.

Williams JM, Beck TF, Pearson DM, Proud MB, Cheung SW, Scott DA.

Am J Med Genet A. 2009 Aug;149A(8):1758-62. doi: 10.1002/ajmg.a.32941.

20.

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.

Nagamani SC, Erez A, Bay C, Pettigrew A, Lalani SR, Herman K, Graham BH, Nowaczyk MJ, Proud M, Craigen WJ, Hopkins B, Kozel B, Plunkett K, Hixson P, Stankiewicz P, Patel A, Cheung SW.

Eur J Hum Genet. 2012 Feb;20(2):176-9. doi: 10.1038/ejhg.2011.171. Epub 2011 Sep 21.

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