PMC Articles for MedGen (Select 347855) - PMC

Select item 94083311.

Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population

Nadeem Ul Nazeer, Mohammad Akbar Bhat, Bilal Rah, Gh Rasool Bhat, Shadil Ibrahim Wani, Adfar Yousuf, Abdul Majeed Dar, Dil Afroze

Int J Environ Res Public Health. 2022 Aug; 19(16): 9884. Published online 2022 Aug 11. doi: 10.3390/ijerph19169884

PMCID:: PMC9408331

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Select item 93565482.

Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report

Suraj Kannan, Joann N. Bodurtha, Ada Hamosh, Christopher Jordan

Mol Genet Genomic Med. 2022 Aug; 10(8): e1947. Published online 2022 Jul 6. doi: 10.1002/mgg3.1947

PMCID:: PMC9356548

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Select item 88624633.

A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report

İsmail Balaban, Meltem Ceyhan Bilgici, Kemal Baysal

BMC Pediatr. 2022; 22: 102. Published online 2022 Feb 21. doi: 10.1186/s12887-022-03137-0

PMCID:: PMC8862463

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Select item 66540474.

Cardiovascular anomalies in children and young adults with Ullrich‐Turner syndrome—the erlangen experience

Thomas M. K. Völkl, Karin Degenhardt, Andreas Koch, Diemud Simm, Helmuth G. Dörr, Professor Helmut Singer

Clin Cardiol. 2005 Feb; 28(2): 88–92. Published online 2006 Dec 5. doi: 10.1002/clc.4960280209

PMCID:: PMC6654047

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Select item 65030265.

Association of NKX2‐5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children

Eman G. Behiry, Mahmoud A. Al‐Azzouny, Dina Sabry, Ola G. Behairy, Nessrine E. Salem

Mol Genet Genomic Med. 2019 May; 7(5): e612. Published online 2019 Mar 4. doi: 10.1002/mgg3.612

PMCID:: PMC6503026

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Select item 59831736.

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections

Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Miguel Del Campo, Marilyn C. Jones, David P. Dimmock, Stephen F. Kingsmore, on behalf of the RCIGM Investigators

Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002469. doi: 10.1101/mcs.a002469

PMCID:: PMC5983173

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Select item 44726157.

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

F. J. Probst, R. A. James, L. C. Burrage, J. A. Rosenfeld, T. P. Bohan, C. H. Ward Melver, P. Magoulas, E. Austin, A. I. A. Franklin, M. Azamian, F. Xia, A. Patel, W. Bi, C. Bacino, J.W. Belmont, S. M. Ware, C. Shaw, S.W. Cheung, S. R. Lalani

Orphanet J Rare Dis. 2015; 10: 75. Published online 2015 Jun 14. doi: 10.1186/s13023-015-0291-0

PMCID:: PMC4472615

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Select item 43800778.

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus

Fabiola Quintero-Rivera, Qiongchao J. Xi, Kim M. Keppler-Noreuil, Ji Hyun Lee, Anne W. Higgins, Raymond M. Anchan, Amy E. Roberts, Ihn Sik Seong, Xueping Fan, Kasper Lage, Lily Y. Lu, Joanna Tao, Xuchen Hu, Ronald Berezney, Bruce D. Gelb, Anna Kamp, Ivan P. Moskowitz, Ronald V. Lacro, Weining Lu, Cynthia C. Morton, James F. Gusella, Richard L. Maas

Hum Mol Genet. 2015 Apr 15; 24(8): 2375–2389. Published online 2015 Jan 7. doi: 10.1093/hmg/ddv004

PMCID:: PMC4380077

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Select item 39086889.

Micro-computed Tomography Provides High Accuracy Congenital Heart Disease Diagnosis in Neonatal and Fetal Mice

Andrew J. Kim, Richard Francis, Xiaoqin Liu, William A. Devine, Ricardo Ramirez, Shane J. Anderton, Li Yin Wong, Fahim Faruque, George C. Gabriel, Linda Leatherbury, Kimimasa Tobita, Cecilia W. Lo

Circ Cardiovasc Imaging. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Circ Cardiovasc Imaging. 2013 Jul; 6(4): 551–559. Published online 2013 Jun 12. doi: 10.1161/CIRCIMAGING.113.000279

Correction in:: volume 6 on page e30

PMCID:: PMC3908688

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Select item 300715410.

Cardiac neural crest orchestrates remodeling and functional maturation of mouse semilunar valves

Rajan Jain, Kurt A. Engleka, Stacey L. Rentschler, Lauren J. Manderfield, Li Li, Lijun Yuan, Jonathan A. Epstein

J Clin Invest. 2011 Jan 4; 121(1): 422–430. Published online 2010 Dec 13. doi: 10.1172/JCI44244

PMCID:: PMC3007154

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Select item 285741111.

Association of Congenital Cardiovascular Malformations With 33 Single Nucleotide Polymorphisms of Selected Cardiovascular Disease-Related Genes

Karen Kuehl, Christopher Loffredo, Edward J. Lammer, David M. Iovannisci, Gary M. Shaw

Birth Defects Res A Clin Mol Teratol. Author manuscript; available in PMC 2010 Apr 20.

Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2010 Feb; 88(2): 101–110. doi: 10.1002/bdra.20630

PMCID:: PMC2857411

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Select item 282406912.

Association of Paternal Age and Risk for Major Congenital Anomalies from the National Birth Defects Prevention Study, 1997–2004

Ridgely Fisk Green, Owen Devine, Krista S. Crider, Richard S. Olney, Natalie Archer, Andrew F. Olshan, Stuart K. Shapira, the National Birth Defects Prevention Study

Ann Epidemiol. Author manuscript; available in PMC 2011 Mar 1.

Published in final edited form as: Ann Epidemiol. 2010 Mar; 20(3): 241–249. Published online 2010 Jan 6. doi: 10.1016/j.annepidem.2009.10.009