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Items: 1 to 20 of 86

1.

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
2.

CRELD1 gene variants and atrioventricular septal defects in Down syndrome.

Asim A, Agarwal S, Panigrahi I, Sarangi AN, Muthuswamy S, Kapoor A.

Gene. 2018 Jan 30;641:180-185. doi: 10.1016/j.gene.2017.10.044. Epub 2017 Oct 18.

PMID:
29054759
3.

Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.

Alcántara-Ortigoza MA, De Rubens-Figueroa J, Reyna-Fabian ME, Estandía-Ortega B, González-del Angel A, Molina-Álvarez B, Velázquez-Aragón JA, Villagómez-Martínez S, Pereira-López GI, Martínez-Cruz V, Álvarez-Gómez RM, Díaz-García L.

Pediatr Cardiol. 2015 Apr;36(4):802-8. doi: 10.1007/s00246-014-1091-3. Epub 2014 Dec 19. Erratum in: Pediatr Cardiol. 2015 Oct;36(7):1551.

PMID:
25524324
4.

[Potential role of CRELD1 gene in the pathogenesis of atrioventricular septal defect].

Guo Y, Shen J, Li F, Wang J, Wang X, Guo A, Sun K.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):263-7. doi: 10.3760/cma.j.issn.1003-9406.2014.03.001. Chinese.

PMID:
24927998
5.

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

Maslen CL, Babcock D, Robinson SW, Bean LJ, Dooley KJ, Willour VL, Sherman SL.

Am J Med Genet A. 2006 Nov 15;140(22):2501-5. No abstract available.

PMID:
17036335
6.

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.

7.

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.

8.

Molecular genetics of atrioventricular septal defects.

Maslen CL.

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

PMID:
15096951
9.

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
10.

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.

11.

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.

12.

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
13.

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.

14.

Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects.

Redig JK, Fouad GT, Babcock D, Reshey B, Feingold E, Reeves RH, Maslen CL.

AIMS Genet. 2014;1(1):1-19.

15.

Penetrance of Congenital Heart Disease in a Mouse Model of Down Syndrome Depends on a Trisomic Potentiator of a Disomic Modifier.

Li H, Edie S, Klinedinst D, Jeong JS, Blackshaw S, Maslen CL, Reeves RH.

Genetics. 2016 Jun;203(2):763-70. doi: 10.1534/genetics.116.188045. Epub 2016 Mar 30.

16.

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.

Ramachandran D, Zeng Z, Locke AE, Mulle JG, Bean LJ, Rosser TC, Dooley KJ, Cua CL, Capone GT, Reeves RH, Maslen CL, Cutler DJ, Feingold E, Sherman SL, Zwick ME.

G3 (Bethesda). 2015 Jul 20;5(10):1961-71. doi: 10.1534/g3.115.019943.

17.

CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects.

Sarkozy A, Esposito G, Conti E, Digilio MC, Marino B, Calabrò R, Pizzuti A, Dallapiccola B.

Am J Med Genet A. 2005 Dec 15;139(3):236-8. No abstract available.

PMID:
16278904
18.

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
19.

A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.

Wilson L, Curtis A, Korenberg JR, Schipper RD, Allan L, Chenevix-Trench G, Stephenson A, Goodship J, Burn J.

Am J Hum Genet. 1993 Dec;53(6):1262-8.

20.

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.

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