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Results: 1 to 20 of 92

Similar articles for PubMed (Select 19933292)

1.

Familial transposition of the great arteries caused by multiple mutations in laterality genes.

De Luca A, Sarkozy A, Consoli F, Ferese R, Guida V, Dentici ML, Mingarelli R, Bellacchio E, Tuo G, Limongelli G, Digilio MC, Marino B, Dallapiccola B.

Heart. 2010 May;96(9):673-7. doi: 10.1136/hrt.2009.181685. Epub 2009 Nov 20.

PMID:
19933292
2.

The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.

D'Alessandro LC, Latney BC, Paluru PC, Goldmuntz E.

Am J Med Genet A. 2013 Apr;161A(4):792-802. doi: 10.1002/ajmg.a.35849. Epub 2013 Feb 20.

3.

[Transposition of great arteries. Understanding its pathogenesis].

Marino B, Digilio MC, Versacci P, Anaclerio S, Dallapiccola B.

Ital Heart J Suppl. 2002 Feb;3(2):154-60. Review. Italian.

PMID:
11926021
4.

Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence.

Digilio MC, Casey B, Toscano A, Calabrò R, Pacileo G, Marasini M, Banaudi E, Giannotti A, Dallapiccola B, Marino B.

Circulation. 2001 Dec 4;104(23):2809-14.

5.

Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.

Chhin B, Hatayama M, Bozon D, Ogawa M, Schön P, Tohmonda T, Sassolas F, Aruga J, Valard AG, Chen SC, Bouvagnet P.

Hum Mutat. 2007 Jun;28(6):563-70.

PMID:
17295247
6.

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW.

Am J Hum Genet. 2004 Jan;74(1):93-105. Epub 2003 Dec 16.

7.

CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.

Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M.

Am J Hum Genet. 2002 Mar;70(3):776-80. Epub 2002 Jan 17.

8.

Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries.

Piacentini G, Digilio MC, Capolino R, Zorzi AD, Toscano A, Sarkozy A, D'Agostino R, Marasini M, Russo MG, Dallapiccola B, Marino B.

Am J Med Genet A. 2005 Aug 30;137(2):176-80.

PMID:
16059940
9.

Analysis of mutations in 7 candidate genes for dextro-Transposition of the great arteries in Chinese population.

Lei L, Lin H, Zhong S, Zhang Z, Chen J, Li XX, Yu X, Liu X, Zhuang J.

J Thorac Dis. 2014 May;6(5):491-6. doi: 10.3978/j.issn.2072-1439.2014.03.26.

10.

Transposition of great arteries: new insights into the pathogenesis.

Unolt M, Putotto C, Silvestri LM, Marino D, Scarabotti A, Valerio Massaccesi, Caiaro A, Versacci P, Marino B.

Front Pediatr. 2013 Jun 6;1:11. doi: 10.3389/fped.2013.00011. Review.

11.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
12.

Occurrence of cardiac malformations in relatives of children with transposition of the great arteries.

Becker TA, Van Amber R, Moller JH, Pierpont ME.

Am J Med Genet. 1996 Dec 2;66(1):28-32.

PMID:
8957507
13.

Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

Muncke N, Jung C, Rüdiger H, Ulmer H, Roeth R, Hubert A, Goldmuntz E, Driscoll D, Goodship J, Schön K, Rappold G.

Circulation. 2003 Dec 9;108(23):2843-50. Epub 2003 Nov 24.

14.

NKX2.5 mutations in patients with congenital heart disease.

McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E.

J Am Coll Cardiol. 2003 Nov 5;42(9):1650-5.

PMID:
14607454
15.

Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease.

Selamet Tierney ES, Marans Z, Rutkin MB, Chung WK.

Cardiol Young. 2007 Jun;17(3):268-74. Epub 2007 Apr 20.

PMID:
17445335
17.

SLC45A2 variations in Indian oculocutaneous albinism patients.

Sengupta M, Chaki M, Arti N, Ray K.

Mol Vis. 2007 Aug 10;13:1406-11.

PMID:
17768386
18.

Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP.

J Am Coll Cardiol. 2003 Jun 4;41(11):2072-6.

PMID:
12798584
19.

Mouse model of heterotaxy with single ventricle spectrum of cardiac anomalies.

Aune CN, Chatterjee B, Zhao XQ, Francis R, Bracero L, Yu Q, Rosenthal J, Leatherbury L, Lo CW.

Pediatr Res. 2008 Jan;63(1):9-14.

PMID:
18043505
20.

Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene.

Gutierrez-Roelens I, Sluysmans T, Gewillig M, Devriendt K, Vikkula M.

Hum Mutat. 2002 Jul;20(1):75-6.

PMID:
12112663
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