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Items: 12


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.


22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.

Sgardioli IC, Vieira TP, Simioni M, Monteiro FP, Gil-da-Silva-Lopes VL.

J Pediatr Genet. 2015 Mar;4(1):17-22. doi: 10.1055/s-0035-1554976.


Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.

Pereira RR, Pinto IP, Minasi LB, de Melo AV, da Cruz e Cunha DM, Cruz AS, Ribeiro CL, da Silva CC, de Melo e Silva D, da Cruz AD.

PLoS One. 2014 Jul 25;9(7):e103117. doi: 10.1371/journal.pone.0103117. eCollection 2014.


Microdeletion and microduplication analysis of chinese conotruncal defects patients with targeted array comparative genomic hybridization.

Gong X, Wu X, Ma X, Wu D, Zhang T, He L, Qin S, Li X.

PLoS One. 2013 Oct 2;8(10):e76314. doi: 10.1371/journal.pone.0076314. eCollection 2013.


Effect of copy number variants on outcomes for infants with single ventricle heart defects.

Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann L, Gelb BD.

Circ Cardiovasc Genet. 2013 Oct;6(5):444-51. doi: 10.1161/CIRCGENETICS.113.000189. Epub 2013 Sep 10.


Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice.

Freyer L, Nowotschin S, Pirity MK, Baldini A, Morrow BE.

BMC Dev Biol. 2013 Aug 23;13:33. doi: 10.1186/1471-213X-13-33.


Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders.

Hiroi N, Takahashi T, Hishimoto A, Izumi T, Boku S, Hiramoto T.

Mol Psychiatry. 2013 Nov;18(11):1153-65. doi: 10.1038/mp.2013.92. Epub 2013 Aug 6. Review.


Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing.

Vieira TP, Sgardioli IC, Gil-da-Silva-Lopes VL.

J Community Genet. 2013 Jan;4(1):99-106. doi: 10.1007/s12687-012-0123-z. Epub 2012 Oct 21.


BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.

Brunet A, Armengol L, Heine D, Rosell J, García-Aragonés M, Gabau E, Estivill X, Guitart M.

BMC Med Genet. 2009 Dec 23;10:144. doi: 10.1186/1471-2350-10-144.


Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography.

Gotsch F, Romero R, Espinoza J, Kusanovic JP, Erez O, Hassan S, Yeo L.

J Matern Fetal Neonatal Med. 2010 Apr;23(4):297-307. doi: 10.3109/14767050903108206.


Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice.

Suzuki G, Harper KM, Hiramoto T, Funke B, Lee M, Kang G, Buell M, Geyer MA, Kucherlapati R, Morrow B, Männistö PT, Agatsuma S, Hiroi N.

Hum Mol Genet. 2009 Oct 15;18(20):3914-25. doi: 10.1093/hmg/ddp334. Epub 2009 Jul 19.


A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.

Fernández L, Nevado J, Santos F, Heine-Suñer D, Martinez-Glez V, García-Miñaur S, Palomo R, Delicado A, Pajares IL, Palomares M, García-Guereta L, Valverde E, Hawkins F, Lapunzina P.

BMC Med Genet. 2009 Jun 2;10:48. doi: 10.1186/1471-2350-10-48. Review.

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