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Items: 1 to 20 of 78

1.

Of mice and men: molecular genetics of congenital heart disease.

Andersen TA, Troelsen Kde L, Larsen LA.

Cell Mol Life Sci. 2014 Apr;71(8):1327-52. doi: 10.1007/s00018-013-1430-1. Epub 2013 Aug 10. Review.

2.

Congenital heart disease: emerging themes linking genetics and development.

Yuan S, Zaidi S, Brueckner M.

Curr Opin Genet Dev. 2013 Jun;23(3):352-9. doi: 10.1016/j.gde.2013.05.004. Epub 2013 Jun 20. Review.

3.

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population.

An Y, Duan W, Huang G, Chen X, Li L, Nie C, Hou J, Gui Y, Wu Y, Zhang F, Shen Y, Wu B, Wang H.

BMC Med Genomics. 2016 Jan 8;9:2. doi: 10.1186/s12920-015-0163-4.

4.

[Chromosomal changes in congenital heart disease].

Larsen LA.

Ugeskr Laeger. 2011 Jan 17;173(3):194-6. Danish.

PMID:
21241627
5.

Molecular genetics of congenital atrial septal defects.

Posch MG, Perrot A, Berger F, Ozcelik C.

Clin Res Cardiol. 2010 Mar;99(3):137-47. doi: 10.1007/s00392-009-0095-0. Epub 2009 Dec 11. Review.

6.

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.

7.

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.

Geng J, Picker J, Zheng Z, Zhang X, Wang J, Hisama F, Brown DW, Mullen MP, Harris D, Stoler J, Seman A, Miller DT, Fu Q, Roberts AE, Shen Y.

BMC Genomics. 2014 Dec 17;15:1127. doi: 10.1186/1471-2164-15-1127.

8.

Congenital heart disease: entering a new era of human genetics.

Bruneau BG, Srivastava D.

Circ Res. 2014 Feb 14;114(4):598-9. doi: 10.1161/CIRCRESAHA.113.303060.

9.

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.

Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M.

Proc Natl Acad Sci U S A. 2011 Feb 15;108(7):2915-20. doi: 10.1073/pnas.1019645108. Epub 2011 Jan 31.

10.

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.

11.

High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease.

Zhao W, Niu G, Shen B, Zheng Y, Gong F, Wang X, Lee J, Mulvihill JJ, Chen X, Li S.

Am J Med Genet A. 2013 Dec;161A(12):3087-94. doi: 10.1002/ajmg.a.36177. Epub 2013 Sep 24.

PMID:
24115576
12.

Global genetic analysis in mice unveils central role for cilia in congenital heart disease.

Li Y, Klena NT, Gabriel GC, Liu X, Kim AJ, Lemke K, Chen Y, Chatterjee B, Devine W, Damerla RR, Chang C, Yagi H, San Agustin JT, Thahir M, Anderton S, Lawhead C, Vescovi A, Pratt H, Morgan J, Haynes L, Smith CL, Eppig JT, Reinholdt L, Francis R, Leatherbury L, Ganapathiraju MK, Tobita K, Pazour GJ, Lo CW.

Nature. 2015 May 28;521(7553):520-4. doi: 10.1038/nature14269. Epub 2015 Mar 25.

13.

Duplication and deletion of CFC1 associated with heterotaxy syndrome.

Cao R, Long F, Wang L, Xu Y, Guo Y, Li F, Chen S, Sun K, Xu R.

DNA Cell Biol. 2015 Feb;34(2):101-6. doi: 10.1089/dna.2014.2616. Epub 2014 Nov 25.

14.

Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients.

Sørensen KM, El-Segaier M, Fernlund E, Errami A, Bouvagnet P, Nehme N, Steensberg J, Hjortdal V, Soller M, Behjati M, Werge T, Kirchoff M, Schouten J, Tommerup N, Andersen PS, Larsen LA.

Am J Med Genet A. 2012 Apr;158A(4):720-5. doi: 10.1002/ajmg.a.35214. Epub 2012 Mar 1.

PMID:
22383218
15.

Bridging the gap between anatomy and molecular genetics for an improved understanding of congenital heart disease.

Reamon-Buettner SM, Spanel-Borowski K, Borlak J.

Ann Anat. 2006 May;188(3):213-20. Review.

PMID:
16711160
16.

Complex genetics and the etiology of human congenital heart disease.

Gelb BD, Chung WK.

Cold Spring Harb Perspect Med. 2014 Jul 1;4(7):a013953. doi: 10.1101/cshperspect.a013953. Review.

17.

Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy.

Duncan AR, Khokha MK.

Semin Cell Dev Biol. 2016 Mar;51:73-9. doi: 10.1016/j.semcdb.2016.02.022. Epub 2016 Feb 22. Review.

18.

Genome-wide identification of mouse congenital heart disease loci.

Kamp A, Peterson MA, Svenson KL, Bjork BC, Hentges KE, Rajapaksha TW, Moran J, Justice MJ, Seidman JG, Seidman CE, Moskowitz IP, Beier DR.

Hum Mol Genet. 2010 Aug 15;19(16):3105-13. doi: 10.1093/hmg/ddq211. Epub 2010 May 28.

19.

Molecular genetics of heterotaxy syndromes.

Belmont JW, Mohapatra B, Towbin JA, Ware SM.

Curr Opin Cardiol. 2004 May;19(3):216-20. Review.

PMID:
15096953
20.

Recent advances in understanding the genetics of congenital heart defects.

Gelb BD.

Curr Opin Pediatr. 2013 Oct;25(5):561-6. doi: 10.1097/MOP.0b013e3283648826. Review.

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