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Items: 1 to 20 of 60

1.

Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population.

Li H, Cherry S, Klinedinst D, DeLeon V, Redig J, Reshey B, Chin MT, Sherman SL, Maslen CL, Reeves RH.

Circ Cardiovasc Genet. 2012 Jun;5(3):301-8. doi: 10.1161/CIRCGENETICS.111.960872. Epub 2012 Apr 20.

2.

Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects.

Grossman TR, Gamliel A, Wessells RJ, Taghli-Lamallem O, Jepsen K, Ocorr K, Korenberg JR, Peterson KL, Rosenfeld MG, Bodmer R, Bier E.

PLoS Genet. 2011 Nov;7(11):e1002344. doi: 10.1371/journal.pgen.1002344. Epub 2011 Nov 3.

3.

Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.

Esposito G, Butler TL, Blue GM, Cole AD, Sholler GF, Kirk EP, Grossfeld P, Perryman BM, Harvey RP, Winlaw DS.

Am J Med Genet A. 2011 Oct;155A(10):2416-21.

PMID:
22043484
4.

Absence of association between length variation of an intronic region in the NFATC1 gene and congenital heart defects in a Han Chinese population.

Liu H, Dai L, Mao M, Wang X, Hua Y, Xie L.

DNA Cell Biol. 2012 Jan;31(1):88-91. doi: 10.1089/dna.2011.1286. Epub 2011 Oct 27.

PMID:
22032245
5.

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.

Cooper GM, Shendure J.

Nat Rev Genet. 2011 Aug 18;12(9):628-40. doi: 10.1038/nrg3046. Review.

PMID:
21850043
6.

Prediction of functional regulatory SNPs in monogenic and complex disease.

Zhao Y, Clark WT, Mort M, Cooper DN, Radivojac P, Mooney SD.

Hum Mutat. 2011 Oct;32(10):1183-90. doi: 10.1002/humu.21559. Epub 2011 Sep 9.

7.

Anti-angiogenic and tumor-suppressive roles of candidate tumor-suppressor gene, Fibulin-2, in nasopharyngeal carcinoma.

Law EW, Cheung AK, Kashuba VI, Pavlova TV, Zabarovsky ER, Lung HL, Cheng Y, Chua D, Lai-Wan Kwong D, Tsao SW, Sasaki T, Stanbridge EJ, Lung ML.

Oncogene. 2012 Feb 9;31(6):728-38. doi: 10.1038/onc.2011.272. Epub 2011 Jul 11.

PMID:
21743496
8.

A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India.

Kusuma L, Dinesh SM, Savitha MR, Krishnamurthy B, Narayanappa D, Ramachandra NB.

Genet Test Mol Biomarkers. 2011 Jul-Aug;15(7-8):483-7. doi: 10.1089/gtmb.2010.0246. Epub 2011 Mar 17.

PMID:
21413875
9.

Performance of mutation pathogenicity prediction methods on missense variants.

Thusberg J, Olatubosun A, Vihinen M.

Hum Mutat. 2011 Apr;32(4):358-68. doi: 10.1002/humu.21445. Epub 2011 Feb 22.

PMID:
21412949
10.

Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005.

Hartman RJ, Riehle-Colarusso T, Lin A, Frías JL, Patel SS, Duwe K, Correa A, Rasmussen SA; National Birth Defects Prevention Study..

Am J Med Genet A. 2011 Mar;155A(3):555-64. doi: 10.1002/ajmg.a.33874. Epub 2011 Feb 18.

PMID:
21337694
11.

Genetics of congenital heart defects: a candidate gene approach.

Lagendijk AK, Smith KA, Bakkers J.

Trends Cardiovasc Med. 2010 May;20(4):124-8. doi: 10.1016/j.tcm.2010.10.003. Review.

PMID:
21335282
12.

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.

Salazar M, Consoli F, Villegas V, Caicedo V, Maddaloni V, Daniele P, Caianiello G, Pachón S, Nuñez F, Limongelli G, Pacileo G, Marino B, Bernal JE, De Luca A, Dallapiccola B.

Eur J Med Genet. 2011 May-Jun;54(3):306-9. doi: 10.1016/j.ejmg.2011.01.004. Epub 2011 Jan 27.

PMID:
21276881
13.

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.

Joziasse IC, Smith KA, Chocron S, van Dinther M, Guryev V, van de Smagt JJ, Cuppen E, Ten Dijke P, Mulder BJ, Maslen CL, Reshey B, Doevendans PA, Bakkers J.

Eur J Hum Genet. 2011 Apr;19(4):389-93. doi: 10.1038/ejhg.2010.224. Epub 2011 Jan 19.

14.

Novel CRELD1 gene mutations in patients with atrioventricular septal defect.

Guo Y, Shen J, Yuan L, Li F, Wang J, Sun K.

World J Pediatr. 2010 Nov;6(4):348-52. doi: 10.1007/s12519-010-0235-7. Epub 2010 Nov 16.

PMID:
21080147
15.

Looking down the atrioventricular canal.

Benson DW, Sund KL.

Cardiovasc Res. 2010 Nov 1;88(2):205-6. doi: 10.1093/cvr/cvq302. Epub 2010 Sep 20. No abstract available.

16.

Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.

Locke AE, Dooley KJ, Tinker SW, Cheong SY, Feingold E, Allen EG, Freeman SB, Torfs CP, Cua CL, Epstein MP, Wu MC, Lin X, Capone G, Sherman SL, Bean LJ.

Genet Epidemiol. 2010 Sep;34(6):613-23. doi: 10.1002/gepi.20518.

17.

Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse.

Dunlevy L, Bennett M, Slender A, Lana-Elola E, Tybulewicz VL, Fisher EM, Mohun T.

Cardiovasc Res. 2010 Nov 1;88(2):287-95. doi: 10.1093/cvr/cvq193. Epub 2010 Jun 16.

18.

Complex story of the genetic origins of pediatric heart disease.

Benson DW, Martin LJ.

Circulation. 2010 Mar 23;121(11):1277-9. doi: 10.1161/CIR.0b013e3181d98516. Epub 2010 Mar 8. No abstract available.

19.

Automated inference of molecular mechanisms of disease from amino acid substitutions.

Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, Mooney SD, Radivojac P.

Bioinformatics. 2009 Nov 1;25(21):2744-50. doi: 10.1093/bioinformatics/btp528. Epub 2009 Sep 3.

20.

Dominant-negative ALK2 allele associates with congenital heart defects.

Smith KA, Joziasse IC, Chocron S, van Dinther M, Guryev V, Verhoeven MC, Rehmann H, van der Smagt JJ, Doevendans PA, Cuppen E, Mulder BJ, Ten Dijke P, Bakkers J.

Circulation. 2009 Jun 23;119(24):3062-9. doi: 10.1161/CIRCULATIONAHA.108.843714. Epub 2009 Jun 8.

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