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22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring.

Nguyen LT, Fleishman R, Flynn E, Prasad R, Moulick A, Mesia CI, Moyer S, Jethva R.

Clin Case Rep. 2017 Feb 11;5(3):351-356. doi: 10.1002/ccr3.815. eCollection 2017 Mar.


Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate.

Nouri N, Memarzadeh M, Salehi M, Nouri N, Meamar R, Behnam M, Derakhshandeh F, Kashkoolinejad T, Abdali H.

Adv Biomed Res. 2016 Dec 27;5:201. doi: 10.4103/2277-9175.192728. eCollection 2016.


Altered Brain Structure-Function Relationships Underlie Executive Dysfunction in 22q11.2 Deletion Syndrome.

Jonas RK, Jalbrzikowski M, Montojo CA, Patel A, Kushan L, Chow CC, Vesagas T, Bearden CE.

Mol Neuropsychiatry. 2015 Dec;1(4):235-46. doi: 10.1159/000441979. Epub 2015 Dec 4.


Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.

Guo X, Delio M, Haque N, Castellanos R, Hestand MS, Vermeesch JR, Morrow BE, Zheng D.

Hum Mol Genet. 2016 Sep 1;25(17):3754-3767. doi: 10.1093/hmg/ddw221. Epub 2016 Jul 19.


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. eCollection 2013.


DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects.

Gao W, Higaki T, Eguchi-Ishimae M, Iwabuki H, Wu Z, Yamamoto E, Takata H, Ohta M, Imoto I, Ishii E, Eguchi M.

Hum Genome Var. 2015 Feb 12;2:15004. doi: 10.1038/hgv.2015.4. eCollection 2015.


Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities.

Guy C, Wang X, Lu X, Lu J, Li S.

Mol Cytogenet. 2015 Dec 30;8:102. doi: 10.1186/s13039-015-0200-1. eCollection 2015.


Small supernumerary marker chromosomes and their correlation with specific syndromes.

Jafari-Ghahfarokhi H, Moradi-Chaleshtori M, Liehr T, Hashemzadeh-Chaleshtori M, Teimori H, Ghasemi-Dehkordi P.

Adv Biomed Res. 2015 Jul 27;4:140. doi: 10.4103/2277-9175.161542. eCollection 2015. Review.


MicroRNA Profiling of Neurons Generated Using Induced Pluripotent Stem Cells Derived from Patients with Schizophrenia and Schizoaffective Disorder, and 22q11.2 Del.

Zhao D, Lin M, Chen J, Pedrosa E, Hrabovsky A, Fourcade HM, Zheng D, Lachman HM.

PLoS One. 2015 Jul 14;10(7):e0132387. doi: 10.1371/journal.pone.0132387. eCollection 2015.


Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms.

Guna A, Butcher NJ, Bassett AS.

J Neurodev Disord. 2015;7(1):18. doi: 10.1186/s11689-015-9113-x. Epub 2015 Jul 1.


History of Our Understanding of the Causes of Congenital Heart Disease.

Gelb BD.

Circ Cardiovasc Genet. 2015 Jun;8(3):529-36. doi: 10.1161/CIRCGENETICS.115.001058. No abstract available.


Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome.

Vorstman JA, Breetvelt EJ, Duijff SN, Eliez S, Schneider M, Jalbrzikowski M, Armando M, Vicari S, Shashi V, Hooper SR, Chow EW, Fung WL, Butcher NJ, Young DA, McDonald-McGinn DM, Vogels A, van Amelsvoort T, Gothelf D, Weinberger R, Weizman A, Klaassen PW, Koops S, Kates WR, Antshel KM, Simon TJ, Ousley OY, Swillen A, Gur RE, Bearden CE, Kahn RS, Bassett AS; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome..

JAMA Psychiatry. 2015 Apr;72(4):377-85. doi: 10.1001/jamapsychiatry.2014.2671.


Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.

Racedo SE, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou B, Funke B, Morrow BE.

Am J Hum Genet. 2015 Feb 5;96(2):235-44. doi: 10.1016/j.ajhg.2014.12.025.


Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR.

Hwang VJ, Maar D, Regan J, Angkustsiri K, Simon TJ, Tassone F.

BMC Med Genet. 2014 Oct 14;15:106. doi: 10.1186/s12881-014-0106-5.


Cat eye syndrome.

Sharma D, Murki S, Pratap T, Vasikarla M.

BMJ Case Rep. 2014 May 19;2014. pii: bcr2014203923. doi: 10.1136/bcr-2014-203923.


The genetics of microdeletion and microduplication syndromes: an update.

Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC.

Annu Rev Genomics Hum Genet. 2014;15:215-44. doi: 10.1146/annurev-genom-091212-153408. Epub 2014 Apr 16. Review.


The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.

MacArthur JA, Spector TD, Lindsay SJ, Mangino M, Gill R, Small KS, Hurles ME.

PLoS Genet. 2014 Mar 6;10(3):e1004195. doi: 10.1371/journal.pgen.1004195. eCollection 2014 Mar.


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.


22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis.

Squarcione C, Torti MC, Di Fabio F, Biondi M.

Neuropsychiatr Dis Treat. 2013;9:1873-84. doi: 10.2147/NDT.S52188. Epub 2013 Dec 4. Review.


The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan.

Jonas RK, Montojo CA, Bearden CE.

Biol Psychiatry. 2014 Mar 1;75(5):351-60. doi: 10.1016/j.biopsych.2013.07.019. Epub 2013 Aug 28. Review.

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