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Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia.

Ping LY, Chuang YA, Hsu SH, Tsai HY, Cheng MC.

Genes (Basel). 2016 Nov 22;7(11). pii: E102.


Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects.

Ganji H, Salehi M, Sedghi M, Abdali H, Nouri N, Sadri L, Hosseinzadeh M, Vakili B, Lotfi M.

Heart Asia. 2013 Sep 12;5(1):200-2. doi: 10.1136/heartasia-2013-010327.


22q11.2 deletion syndrome.

McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS.

Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. Review.


Haploinsufficiency of the 22q11.2 microdeletion gene Mrpl40 disrupts short-term synaptic plasticity and working memory through dysregulation of mitochondrial calcium.

Devaraju P, Yu J, Eddins D, Mellado-Lagarde MM, Earls LR, Westmoreland JJ, Quarato G, Green DR, Zakharenko SS.

Mol Psychiatry. 2016 May 17. doi: 10.1038/mp.2016.75. [Epub ahead of print]


The use of two different MLPA kits in 22q11.2 deletion syndrome.

Evers LJ, Engelen JJ, Houben LM, Curfs LM, van Amelsvoort TA.

Eur J Med Genet. 2016 Apr;59(4):183-8. doi: 10.1016/j.ejmg.2016.02.009.


Structure and function of neonatal social communication in a genetic mouse model of autism.

Takahashi T, Okabe S, Broin PÓ, Nishi A, Ye K, Beckert MV, Izumi T, Machida A, Kang G, Abe S, Pena JL, Golden A, Kikusui T, Hiroi N.

Mol Psychiatry. 2016 Sep;21(9):1208-14. doi: 10.1038/mp.2015.190.


Investigating the underlying mechanisms of aberrant behaviors in bipolar disorder from patients to models: Rodent and human studies.

van Enkhuizen J, Geyer MA, Minassian A, Perry W, Henry BL, Young JW.

Neurosci Biobehav Rev. 2015 Nov;58:4-18. doi: 10.1016/j.neubiorev.2015.08.008. Review.


Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms.

Gamsiz ED, Sciarra LN, Maguire AM, Pescosolido MF, van Dyck LI, Morrow EM.

Neurotherapeutics. 2015 Jul;12(3):553-71. doi: 10.1007/s13311-015-0363-9. Review.


Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development.

Meechan DW, Maynard TM, Tucker ES, Fernandez A, Karpinski BA, Rothblat LA, LaMantia AS.

Prog Neurobiol. 2015 Jul;130:1-28. doi: 10.1016/j.pneurobio.2015.03.004. Review.


Genome architecture and its roles in human copy number variation.

Chen L, Zhou W, Zhang L, Zhang F.

Genomics Inform. 2014 Dec;12(4):136-44. doi: 10.5808/GI.2014.12.4.136. Review.


Genomic sister-disorders of neurodevelopment: an evolutionary approach.

Crespi B, Summers K, Dorus S.

Evol Appl. 2009 Feb;2(1):81-100. doi: 10.1111/j.1752-4571.2008.00056.x.


TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome.

Gao S, Moreno M, Eliason S, Cao H, Li X, Yu W, Bidlack FB, Margolis HC, Baldini A, Amendt BA.

Hum Mol Genet. 2015 Apr 15;24(8):2330-48. doi: 10.1093/hmg/ddu750.


A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome.

Fuchs JC, Linden JF, Baldini A, Tucker AS.

Hum Mol Genet. 2015 Apr 1;24(7):1869-82. doi: 10.1093/hmg/ddu604.


p53 Suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome.

Caprio C, Baldini A.

Proc Natl Acad Sci U S A. 2014 Sep 16;111(37):13385-90. doi: 10.1073/pnas.1401923111.


Mouse Models of 22q11.2-Associated Autism Spectrum Disorder.

Hiroi N, Hiramoto T, Harper KM, Suzuki G, Boku S.

Autism Open Access. 2012;Suppl 1:001.


Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.

Xu YJ, Chen S, Zhang J, Fang SH, Guo QQ, Wang J, Fu QH, Li F, Xu R, Sun K.

BMC Med Genet. 2014 Jul 6;15:78. doi: 10.1186/1471-2350-15-78.


Myogenic differential methylation: diverse associations with chromatin structure.

Chandra S, Baribault C, Lacey M, Ehrlich M.

Biology (Basel). 2014 Jun 19;3(2):426-51. doi: 10.3390/biology3020426.


Endoderm-specific deletion of Tbx1 reveals an FGF-independent role for Tbx1 in pharyngeal apparatus morphogenesis.

Jackson A, Kasah S, Mansour SL, Morrow B, Basson MA.

Dev Dyn. 2014 Sep;243(9):1143-51. doi: 10.1002/dvdy.24147.

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