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Items: 1 to 20 of 165

1.

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.

2.

Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery.

Ziolkowska L, Kawalec W, Turska-Kmiec A, Krajewska-Walasek M, Brzezinska-Rajszys G, Daszkowska J, Maruszewski B, Burczynski P.

Eur J Pediatr. 2008 Oct;167(10):1135-40. doi: 10.1007/s00431-007-0645-2. Epub 2008 Jan 3.

PMID:
18172682
3.

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.

Wozniak A, Wolnik-Brzozowska D, Wisniewska M, Glazar R, Materna-Kiryluk A, Moszura T, Badura-Stronka M, Skolozdrzy J, Krawczynski MR, Zeyland J, Bobkowski W, Slomski R, Latos-Bielenska A, Siwinska A.

BMC Pediatr. 2010 Dec 6;10:88. doi: 10.1186/1471-2431-10-88.

4.

Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta-analysis.

Jansen FA, Blumenfeld YJ, Fisher A, Cobben JM, Odibo AO, Borrell A, Haak MC.

Ultrasound Obstet Gynecol. 2015 Jan;45(1):27-35. doi: 10.1002/uog.14695. Review.

5.

Congenital heart defects and chromosomal anomalies including 22q11 microdeletion (CATCH 22).

Soares G, Alvares S, Rocha C, Teixeira MF, Mota MC, Reis MI, Feijó MJ, Lima MR, Pinto MR.

Rev Port Cardiol. 2005 Mar;24(3):349-71. English, Portuguese.

PMID:
15929620
6.

Chromosomal abnormalities among children born with conotruncal cardiac defects.

Lammer EJ, Chak JS, Iovannisci DM, Schultz K, Osoegawa K, Yang W, Carmichael SL, Shaw GM.

Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):30-5. doi: 10.1002/bdra.20541.

7.

Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.

Osoegawa K, Iovannisci DM, Lin B, Parodi C, Schultz K, Shaw GM, Lammer EJ.

Am J Med Genet A. 2014 Feb;164A(2):397-406. doi: 10.1002/ajmg.a.36291. Epub 2013 Oct 11.

8.

[Frequency of 22q11 deletions in children with isolated conotruncal defects].

Shen L, Xu YJ, Zhao PJ, Sun K.

Zhongguo Dang Dai Er Ke Za Zhi. 2009 Jan;11(1):25-8. Chinese.

PMID:
19149917
9.

Chromosome 22q11 deletions in patients with conotruncal heart defects.

Khositseth A, Tocharoentanaphol C, Khowsathit P, Ruangdaraganon N.

Pediatr Cardiol. 2005 Sep-Oct;26(5):570-3.

PMID:
16132309
10.

22q11.2 deletion mosaicism in patients with conotruncal heart defects.

Jianrong L, Yinglong L, Xiaodong L, Cuntao Y, Bin C, Bo W.

Birth Defects Res A Clin Mol Teratol. 2006 Apr;76(4):262-5.

PMID:
16575883
11.

Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.

Xu YJ, Wang J, Xu R, Zhao PJ, Wang XK, Sun HJ, Bao LM, Shen J, Fu QH, Li F, Sun K.

BMC Med Genet. 2011 Dec 21;12:169. doi: 10.1186/1471-2350-12-169.

12.

Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization.

Chen M, Yang YS, Shih JC, Lin WH, Lee DJ, Lin YS, Chou CH, Cameron AD, Ginsberg NA, Chen CA, Lee ML, Ma GC.

Ultrasound Obstet Gynecol. 2014 Apr;43(4):396-403. doi: 10.1002/uog.12550. Epub 2013 Dec 26.

13.
14.

Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies.

Iserin L, de Lonlay P, Viot G, Sidi D, Kachaner J, Munnich A, Lyonnet S, Vekemans M, Bonnet D.

Eur J Pediatr. 1998 Nov;157(11):881-4.

PMID:
9835429
15.

Detection of submicroscopic chromosomal aberrations by array-based comparative genomic hybridization in fetuses with congenital heart disease.

Yan Y, Wu Q, Zhang L, Wang X, Dan S, Deng D, Sun L, Yao L, Ma Y, Wang L.

Ultrasound Obstet Gynecol. 2014 Apr;43(4):404-12. doi: 10.1002/uog.13236.

16.

Frequency of 22q11 deletions in patients with conotruncal defects.

Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA.

J Am Coll Cardiol. 1998 Aug;32(2):492-8.

17.

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.

18.

Microdeletion 22q11 in complex cardiovascular malformations.

Mehraein Y, Wippermann CF, Michel-Behnke I, Nhan Ngo TK, Hillig U, Giersberg M, Aulepp U, Barth H, Fritz B, Rehder H.

Hum Genet. 1997 Apr;99(4):433-42.

PMID:
9099830
19.

Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery.

Hu Y, Zhu X, Yang Y, Mo X, Sheng M, Yao J, Wang D.

Cardiol Young. 2009 Apr;19(2):179-84. doi: 10.1017/S1047951109003667. Epub 2009 Feb 19.

PMID:
19224675
20.

Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies.

Beauchesne LM, Warnes CA, Connolly HM, Ammash NM, Grogan M, Jalal SM, Michels VV.

J Am Coll Cardiol. 2005 Feb 15;45(4):595-8.

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