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Items: 1 to 20 of 101

1.

When half is not enough: gene expression and dosage in the 22q11 deletion syndrome.

Meechan DW, Maynard TM, Gopalakrishna D, Wu Y, LaMantia AS.

Gene Expr. 2007;13(6):299-310. Review.

PMID:
17708416
2.

Gene dosage in the developing and adult brain in a mouse model of 22q11 deletion syndrome.

Meechan DW, Maynard TM, Wu Y, Gopalakrishna D, Lieberman JA, LaMantia AS.

Mol Cell Neurosci. 2006 Dec;33(4):412-28. Epub 2006 Nov 13.

PMID:
17097888
3.

Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes.

Meechan DW, Maynard TM, Tucker ES, LaMantia AS.

Int J Dev Neurosci. 2011 May;29(3):283-94. doi: 10.1016/j.ijdevneu.2010.08.005. Epub 2010 Sep 15. Review.

4.

22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development.

Maynard TM, Gopalakrishna D, Meechan DW, Paronett EM, Newbern JM, LaMantia AS.

Hum Mol Genet. 2013 Jan 15;22(2):300-12. doi: 10.1093/hmg/dds429. Epub 2012 Oct 16.

5.

The 22q11.2 deletion syndrome.

Yamagishi H.

Keio J Med. 2002 Jun;51(2):77-88. Review.

6.

Microarray analysis of the Df1 mouse model of the 22q11 deletion syndrome.

Prescott K, Ivins S, Hubank M, Lindsay E, Baldini A, Scambler P.

Hum Genet. 2005 May;116(6):486-96. Epub 2005 Mar 19.

PMID:
15778864
7.

Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome.

Meechan DW, Tucker ES, Maynard TM, LaMantia AS.

Proc Natl Acad Sci U S A. 2009 Sep 22;106(38):16434-45. doi: 10.1073/pnas.0905696106. Epub 2009 Sep 10.

8.

Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.

Sellier C, Hwang VJ, Dandekar R, Durbin-Johnson B, Charlet-Berguerand N, Ander BP, Sharp FR, Angkustsiri K, Simon TJ, Tassone F.

PLoS One. 2014 Aug 1;9(8):e103884. doi: 10.1371/journal.pone.0103884. eCollection 2014.

9.

Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome.

Karpinski BA, Maynard TM, Fralish MS, Nuwayhid S, Zohn IE, Moody SA, LaMantia AS.

Dis Model Mech. 2014 Feb;7(2):245-57. doi: 10.1242/dmm.012484. Epub 2013 Dec 19.

10.

Velo-cardio-facial syndrome: 30 Years of study.

Shprintzen RJ.

Dev Disabil Res Rev. 2008;14(1):3-10. doi: 10.1002/ddrr.2. Review.

11.

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; International Chromosome 22q11.2 Consortium..

Am J Med Genet A. 2012 Nov;158A(11):2781-7. doi: 10.1002/ajmg.a.35512. Epub 2012 Oct 3.

12.

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.

Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, Sparks C, Choi CH, Oghalai J, Curran S, Murphy KC, Monks S, Williams N, O'Donovan MC, Owen MJ, Scambler PJ, Lindsay E.

Proc Natl Acad Sci U S A. 2006 May 16;103(20):7729-34. Epub 2006 May 9.

13.

[Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome].

Demily C, Rossi M, Schneider M, Edery P, Leleu A, d'Amato T, Franck N, Eliez S.

Encephale. 2015 Jun;41(3):266-73. doi: 10.1016/j.encep.2014.10.005. Epub 2014 Dec 16. Review. French.

PMID:
25523123
14.

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden.

Oskarsdóttir S, Vujic M, Fasth A.

Arch Dis Child. 2004 Feb;89(2):148-51.

15.

[Phenotypic variability: genetics and chance--deletion 22q11 and schizophrenia].

Breuning MH.

Ned Tijdschr Geneeskd. 2002 Oct 26;146(43):2016-9. Dutch.

PMID:
12428459
16.

Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome.

Das Chakraborty R, Bernal AJ, Schoch K, Howard TD, Ip EH, Hooper SR, Keshavan MS, Jirtle RL, Shashi V.

Transl Psychiatry. 2012 Apr 24;2:e105. doi: 10.1038/tp.2012.31. Erratum in: Transl Psychiatry. 2012;2:e124. Chakraborty, D [corrected to Das Chakraborty, R].

17.

Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome.

Zeitz MJ, Lerner PP, Ay F, Van Nostrand E, Heidmann JD, Noble WS, Hoffman AR.

Nucleus. 2013 Nov-Dec;4(6):487-93. doi: 10.4161/nucl.27364. Epub 2013 Dec 5.

18.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.

Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium..

Hum Genet. 2016 Mar;135(3):273-85. doi: 10.1007/s00439-015-1623-9. Epub 2016 Jan 7.

19.

The 22q11.2 deletion syndrome: a gene dosage perspective.

Baldini A.

ScientificWorldJournal. 2006 May 1;6:1881-7. Review.

20.

Executive functions and memory abilities in children with 22q11.2 deletion syndrome.

Campbell LE, Azuma R, Ambery F, Stevens A, Smith A, Morris RG, Murphy DG, Murphy KC.

Aust N Z J Psychiatry. 2010 Apr;44(4):364-71. doi: 10.3109/00048670903489882.

PMID:
20307169

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