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Results: 1 to 20 of 99

1.

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.

Ackerman C, Locke AE, Feingold E, Reshey B, Espana K, Thusberg J, Mooney S, Bean LJ, Dooley KJ, Cua CL, Reeves RH, Sherman SL, Maslen CL.

Am J Hum Genet. 2012 Oct 5;91(4):646-59. doi: 10.1016/j.ajhg.2012.08.017.

PMID:
23040494
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Molecular genetics of atrioventricular septal defects.

Maslen CL.

Curr Opin Cardiol. 2004 May;19(3):205-10. Review.

PMID:
15096951
[PubMed - indexed for MEDLINE]
3.

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.

Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL.

Am J Hum Genet. 2003 Apr;72(4):1047-52. Epub 2003 Mar 11.

PMID:
12632326
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Atrioventricular septal defects: possible etiologic differences between complete and partial defects.

Loffredo CA, Hirata J, Wilson PD, Ferencz C, Lurie IW.

Teratology. 2001 Feb;63(2):87-93.

PMID:
11241431
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
22523272
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

[Atrioventricular septal defect characteristics in infants with and without Down's syndrome: a Lebanese study].

Chéhab G, El-Rassi I, Abdo A, Fakhoury H, Chokor I, Haddad W, Saliba Z.

J Med Liban. 2010 Jan-Mar;58(1):3-7. French.

PMID:
20358852
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
20718043
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect.

Ghosh P, Bhaumik P, Ghosh S, Ozbek U, Feingold E, Maslen C, Sarkar B, Pramanik V, Biswas P, Bandyopadhyay B, Dey SK.

Am J Med Genet A. 2012 Nov;158A(11):2843-8. doi: 10.1002/ajmg.a.35626. Epub 2012 Sep 14.

PMID:
22987595
[PubMed - indexed for MEDLINE]
9.

Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.

Ripoll C, Rivals I, Ait Yahya-Graison E, Dauphinot L, Paly E, Mircher C, Ravel A, Grattau Y, Bléhaut H, Mégarbane A, Dembour G, de Fréminville B, Touraine R, Créau N, Potier MC, Delabar JM.

PLoS One. 2012;7(8):e41616. doi: 10.1371/journal.pone.0041616. Epub 2012 Aug 9.

PMID:
22912673
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

PMID:
20558441
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Molecular analysis of nondisjunction in Down syndrome patients with and without atrioventricular septal defects.

Zittergruen MM, Murray JC, Lauer RM, Burns TL, Sheffield VC.

Circulation. 1995 Nov 15;92(10):2803-10.

PMID:
7586245
[PubMed - indexed for MEDLINE]
Free Article
12.

The association between congenital heart disease and Down syndrome in prenatal life.

Paladini D, Tartaglione A, Agangi A, Teodoro A, Forleo F, Borghese A, Martinelli P.

Ultrasound Obstet Gynecol. 2000 Feb;15(2):104-8.

PMID:
10775990
[PubMed - indexed for MEDLINE]
Free Article
13.

Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects.

Priest JR, Girirajan S, Vu TH, Olson A, Eichler EE, Portman MA.

Am J Med Genet A. 2012 Jun;158A(6):1279-84. doi: 10.1002/ajmg.a.35315. Epub 2012 Apr 23.

PMID:
22529060
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, Pérez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE.

Genome Res. 2013 Sep;23(9):1410-21. doi: 10.1101/gr.147991.112. Epub 2013 Jun 19.

PMID:
23783273
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects.

Visootsak J, Mahle WT, Kirshbom PM, Huddleston L, Caron-Besch M, Ransom A, Sherman SL.

Am J Med Genet A. 2011 Nov;155A(11):2688-91. doi: 10.1002/ajmg.a.34252. Epub 2011 Sep 19.

PMID:
21932314
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?

Baptista MJ, Fairbrother UL, Howard CM, Farrer MJ, Davies GE, Trikka D, Maratou K, Redington A, Greve G, Njølstad PR, Kessling AM.

Hum Genet. 2000 Nov;107(5):476-82.

PMID:
11140945
[PubMed - indexed for MEDLINE]
17.

Congenital heart disease in children with Down's syndrome: Turkish experience of 13 years.

Nisli K, Oner N, Candan S, Kayserili H, Tansel T, Tireli E, Karaman B, Omeroglu RE, Dindar A, Aydogan U, Başaran S, Ertugrul T.

Acta Cardiol. 2008 Oct;63(5):585-9.

PMID:
19014001
[PubMed - indexed for MEDLINE]
18.

Outcomes of hospitalization in adults in the United States with atrial septal defect, ventricular septal defect, and atrioventricular septal defect.

Rodriguez FH 3rd, Moodie DS, Parekh DR, Franklin WJ, Morales DL, Zafar F, Graves DE, Friedman RA, Rossano JW.

Am J Cardiol. 2011 Jul 15;108(2):290-3. doi: 10.1016/j.amjcard.2011.03.036. Epub 2011 May 3.

PMID:
21545985
[PubMed - indexed for MEDLINE]
19.

Consanguineous marriage and congenital heart defects: a case-control study in the neonatal period.

Yunis K, Mumtaz G, Bitar F, Chamseddine F, Kassar M, Rashkidi J, Makhoul G, Tamim H.

Am J Med Genet A. 2006 Jul 15;140(14):1524-30. Erratum in: Am J Med Genet A. 2006 Sep 15;140(18):1990. Khalid, Yunis [corrected to Yunis, Khalid]; Ghina, Mumtaz [corrected to Mumtaz, Ghina]; Fadi, Bitar [corrected to Bitar, Fadi]; Fadi, Chamseddine [corrected to Chamseddine, Fadi]; May, Kassar [corrected to Kassar, May]; Joseph, Rashkidi [corrected to Rashkidi, Joseph]; Makhoul, Ghaith [corrected to Makhoul, Ghaith]; Hala, Tamim [corrected to Tamim, Hala].

PMID:
16763961
[PubMed - indexed for MEDLINE]
20.

[Fetal atrioventricular septal defect associated with Patau and Edwards syndromes, as well as trisomy 22].

Cesko I, Hajdú J, Marton T, Tóth-Pál E, Papp C, Papp Z.

Orv Hetil. 1998 May 3;139(18):1087-9. Hungarian.

PMID:
9608772
[PubMed - indexed for MEDLINE]

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