PMC Articles for MedGen (Select 482569) - PMC

Select item 42146001.

Foxf Genes Integrate Tbx5 and Hedgehog Pathways in the Second Heart Field for Cardiac Septation

Andrew D. Hoffmann, Xinan Holly Yang, Ozanna Burnicka-Turek, Joshua D. Bosman, Xiaomeng Ren, Jeffrey D. Steimle, Steven A. Vokes, Andrew P. McMahon, Vladimir V. Kalinichenko, Ivan P. Moskowitz

PLoS Genet. 2014 Oct; 10(10): e1004604. Published online 2014 Oct 30. doi: 10.1371/journal.pgen.1004604

Correction in:: PLoS Genet. 2016 Dec; 12(12): e1006533.

PMCID:: PMC4214600

Abstract Article PDF–11M

Select item 17290822.

Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study

C Tennstedt, R Chaoui, H Korner, M Dietel

Heart. 1999 Jul; 82(1): 34–39. doi: 10.1136/hrt.82.1.34

PMCID:: PMC1729082

Summary PDF–97K

Select item 29409363.

Identification of GATA6 sequence variants in patients with congenital heart defects

Meenakshi Maitra, Sara N. Koenig, Deepak Srivastava, Vidu Garg

Pediatr Res. Author manuscript; available in PMC 2011 Oct 1.

Published in final edited form as: Pediatr Res. 2010 Oct; 68(4): 281–285. doi: 10.1203/PDR.0b013e3181ed17e4

PMCID:: PMC2940936

Abstract Article PDF–3.0M

Select item 32158594.

A Genetic Contribution to Risk for Postoperative Junctional Ectopic Tachycardia in Children Undergoing Surgery for Congenital Heart Disease

Kristie Y. Borgman, Andrew H. Smith, Jill P. Owen, Frank A. Fish, Prince J. Kannankeril

Heart Rhythm. Author manuscript; available in PMC 2012 Dec 1.

Published in final edited form as: Heart Rhythm. 2011 Dec; 8(12): 1900–1904. Published online 2011 Jul 6. doi: 10.1016/j.hrthm.2011.06.033

PMCID:: PMC3215859

Abstract Article PDF–59K

Select item 33780535.

Variation in Folate Pathway Genes Contributes to Risk of Congenital Heart Defects Among Individuals With Down Syndrome

Adam E. Locke, Kenneth J. Dooley, Stuart W. Tinker, Soo Yeon Cheong, Eleanor Feingold, Emily G. Allen, Sallie B. Freeman, Claudine P. Torfs, Clifford L. Cua, Michael P. Epstein, Michael C. Wu, Xihong Lin, George Capone, Stephanie L. Sherman, Lora J. H. Bean

Genet Epidemiol. Author manuscript; available in PMC 2012 Jun 19.

Published in final edited form as: Genet Epidemiol. 2010 Sep; 34(6): 613–623. doi: 10.1002/gepi.20518

PMCID:: PMC3378053

Abstract Article PDF–741K

Select item 34007306.

TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype

Chirag Patel, Lee Silcock, Dominic McMullan, Louise Brueton, Helen Cox

Eur J Hum Genet. 2012 Aug; 20(8): 863–869. Published online 2012 Feb 15. doi: 10.1038/ejhg.2012.16

PMCID:: PMC3400730

Abstract Article PDF–436K

Select item 34264267.

Human gene copy number spectra analysis in congenital heart malformations

Aoy Tomita-Mitchell, Donna K. Mahnke, Craig A. Struble, Maureen E. Tuffnell, Karl D. Stamm, Mats Hidestrand, Susan E. Harris, Mary A. Goetsch, Pippa M. Simpson, David P. Bick, Ulrich Broeckel, Andrew N. Pelech, James S. Tweddell, Michael E. Mitchell

Physiol Genomics. 2012 May 1; 44(9): 518–541. Published online 2012 Feb 7. doi: 10.1152/physiolgenomics.00013.2012

PMCID:: PMC3426426

Abstract Article

Select item 35986278.

Endocardial Cushion Morphogenesis and Coronary Vessel Development Require Chicken Ovalbumin Upstream Promoter-Transcription Factor II

Fu-Jung Lin, Li-Ru You, Cheng-Tai Yu, Wen-Hsin Hsu, Ming-Jer Tsai, Sophia Y. Tsai

Arterioscler Thromb Vasc Biol. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Arterioscler Thromb Vasc Biol. 2012 Nov; 32(11): e135–e146. Published online 2012 Sep 6. doi: 10.1161/ATVBAHA.112.300255

PMCID:: PMC3598627

Abstract Article PDF–3.1M

Select item 109066949.

Type 1 diabetes in a patient with Ellis-van Creveld syndrome

Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

Sao Paulo Med J. 2012; 130(1): 53–56. Published online 2012 Feb 13. doi: 10.1590/S1516-31802012000100009

PMCID:: PMC10906694

Abstract Article PDF–406K

Select item 459188710.

Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis

Guruprasad Mahadevaiah, Manoj Gupta, Ravi Ashwath

Tex Heart Inst J. 2015 Oct; 42(5): 458–461. Published online 2015 Oct 1. doi: 10.14503/THIJ-14-4256

PMCID:: PMC4591887

Abstract Article PDF–934K

Select item 459297811.

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

Dhanya Ramachandran, Zhen Zeng, Adam E. Locke, Jennifer G. Mulle, Lora J.H. Bean, Tracie C. Rosser, Kenneth J. Dooley, Clifford L. Cua, George T. Capone, Roger H. Reeves, Cheryl L. Maslen, David J. Cutler, Eleanor Feingold, Stephanie L. Sherman, Michael E. Zwick

G3 (Bethesda) 2015 Oct; 5(10): 1961–1971. Published online 2015 Jul 20. doi: 10.1534/g3.115.019943

PMCID:: PMC4592978

Abstract Article PDF–2.5M

Select item 467994112.

Association of GDF1 rs4808863 with fetal congenital heart defects: a case–control study

Juan Zhang, Qingqing Wu, Li Wang, Xiaofei Li, Yuqing Ma, Ling Yao

BMJ Open. 2015; 5(12): e009352. Published online 2015 Dec 11. doi: 10.1136/bmjopen-2015-009352

PMCID:: PMC4679941

Abstract Article PDF–959K

Select item 571775613.

Genetic abnormalities in FOXP1 are associated with congenital heart defects

Sheng-Wei Chang, Mona Mislankar, Chaitali Misra, Nianyuan Huang, Daniel G. DaJusta, Steven M. Harrison, Kim L. McBride, Linda A. Baker, Vidu Garg

Hum Mutat. Author manuscript; available in PMC 2017 Dec 6.

Published in final edited form as: Hum Mutat. 2013 Sep; 34(9): 1226–1230. Published online 2013 Jul 11. doi: 10.1002/humu.22366

PMCID:: PMC5717756

Abstract Article PDF–860K

Select item 623780014.

Analysis of gene copy number variations in patients with congenital heart disease using multiplex ligation-dependent probe amplification

Esra Tuba Mutlu, Hayrettin Hakan Aykan, Tevfik Karagöz

Anatol J Cardiol. 2018 Jul; 20(1): 9–15. Published online 2018 May 23. doi: 10.14744/AnatolJCardiol.2018.70481

PMCID:: PMC6237800

Abstract Article PDF–836K

Select item 733241515.

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

Amber E. L. van Nisselrooij, Malou A. Lugthart, Sally-Ann Clur, Ingeborg H. Linskens, Eva Pajkrt, Lukas A. Rammeloo, Lieke Rozendaal, Nico A. Blom, Jan M. M. van Lith, Alida C. Knegt, Mariëtte J. V. Hoffer, Emmelien Aten, Gijs W. E. Santen, Monique C. Haak

Genet Med. 2020; 22(7): 1206–1214. Published online 2020 Apr 28. doi: 10.1038/s41436-020-0791-8

PMCID:: PMC7332415

Abstract Article PDF–857K

Select item 767500216.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrian Palencia-Campos, Phillip C. Aoto, Erik M.F. Machal, Ana Rivera-Barahona, Patricia Soto-Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci-Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Celine Huber, Dominique Bonneau, Michael S. Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F. Bennett, Amy L. Schneider, Ingrid E. Scheffer, Maria Kibæk, Britta S. Kristiansen, Mahmoud Y. Issa, Mennat I. Mehrez, Samira Ismail, Jair Tenorio, Gaoyang Li, Bjørn Steen Skålhegg, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Aia E. Jønch, Alessandro De Luca, Geert Mortier, Valérie Cormier-Daire, Alban Ziegler, Mathew Wallis, Pablo Lapunzina, Friedrich W. Herberg, Susan S. Taylor, Victor L. Ruiz-Perez

Am J Hum Genet. 2020 Nov 5; 107(5): 977–988. Published online 2020 Oct 14. doi: 10.1016/j.ajhg.2020.09.005

PMCID:: PMC7675002

Abstract Article PDF–3.0M

Select item 846771417.

The Genetic Architecture of a Congenital Heart Defect Is Related to Its Fitness Cost

Ehiole Akhirome, Suk D. Regmi, Rachel A. Magnan, Nelson Ugwu, Yidan Qin, Claire E. Schulkey, James M. Cheverud, Patrick Y. Jay

Genes (Basel) 2021 Sep; 12(9): 1368. Published online 2021 Aug 31. doi: 10.3390/genes12091368

PMCID:: PMC8467714

Abstract Article PDF–1.9M

Select item 415914718.

Disruption of myocardial Gata4 and Tbx5 results in defects in cardiomyocyte proliferation and atrioventricular septation

Chaitali Misra, Sheng-Wei Chang, Madhumita Basu, Nianyuan Huang, Vidu Garg

Hum Mol Genet. 2014 Oct 1; 23(19): 5025–5035. Published online 2014 May 8. doi: 10.1093/hmg/ddu215

PMCID:: PMC4159147

Abstract Article PDF–2.1M

Select item 338678519.

Genetic Modifiers Predisposing to Congenital Heart Disease in the Sensitized Down Syndrome Population

Huiqing Li, Sheila Cherry, Donna Klinedinst, Valerie DeLeon, Jennifer Redig, Benjamin Reshey, Michael T. Chin, Stephanie L. Sherman, Cheryl L. Maslen, Roger H. Reeves

Circ Cardiovasc Genet. Author manuscript; available in PMC 2013 Jun 1.

Published in final edited form as: Circ Cardiovasc Genet. 2012 Jun 1; 5(3): 301–308. Published online 2012 Apr 20. doi: 10.1161/CIRCGENETICS.111.960872

PMCID:: PMC3386785

Abstract Article PDF–1.0M

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