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Select item 63882981.

Single-Center Experience with Minimally Invasive Mitral Operations through Right Minithoracotomy

Marek Pojar, Jan Vojacek, Mikita Karalko, Zdenek Turek

Ann Thorac Cardiovasc Surg. 2019; 25(1): 18–25. Published online 2018 Sep 20. doi: 10.5761/atcs.oa.18-00100

PMCID:: PMC6388298

Article PDF–184K

Select item 63288692.

Functional and structural studies of tolloid-like 1 mutants associated with atrial-septal defect 6

Lukasz Sieron, Marta Lesiak, Izabela Schisler, Zofia Drzazga, Andrzej Fertala, Aleksander L. Sieron

Biosci Rep. 2019 Jan 31; 39(1): BSR20180270. Prepublished online 2018 Dec 11. Published online 2019 Jan 8. doi: 10.1042/BSR20180270

PMCID:: PMC6328869

Article PDF–1.0M

Select item 59534513.

Meta-analyses of individual versus group interventions for pre-school children with autism spectrum disorder (ASD)

Yoshiyuki Tachibana, Celine Miyazaki, Masashi Mikami, Erika Ota, Rintaro Mori, Yeonhee Hwang, Akiko Terasaka, Eriko Kobayashi, Yoko Kamio

PLoS One. 2018; 13(5): e0196272. Published online 2018 May 15. doi: 10.1371/journal.pone.0196272

PMCID:: PMC5953451

Article PDF–12M

Select item 32991894.

Doppler Echocardiographic Diagnosis of a Rare Pentalogy of Fallot Having Penta-Cardiac Anomalies: A Case Report

Mohd Suhail, Mohd Faizul-Suhail, Hina Khan, Safia Suhail

J Clin Med Res. 2009 Oct; 1(4): 240–243. Published online 2009 Oct 16. doi: 10.4021/jocmr2009.09.1261

PMCID:: PMC3299189

Article PDF–570K

Select item 91339625.

TBX5 variant with the novel phenotype of mixed-type total anomalous pulmonary venous return in Holt-Oram Syndrome and variable intrafamilial heart defects

Bilal Azab, Dunia Aburizeg, Weizhen Ji, Lauren Jeffries, Nooredeen Jamal Isbeih, Amal Saleh Al-Akily, Hashim Mohammad, Yousef Abu Osba, Mohammad A. Shahin, Zain Dardas, Ma'mon M. Hatmal, Iyad Al-Ammouri, Saquib Lakhani

Mol Med Rep. 2022 Jun; 25(6): 210. Published online 2022 May 4. doi: 10.3892/mmr.2022.12726

PMCID:: PMC9133962

Article PDF–2.2M

Select item 90090516.

Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys

D. Hettiarachchi, S. M. V. Subasinghe, G. G. Anandagoda, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake

BMC Med Genomics. 2022; 15: 82. Published online 2022 Apr 14. doi: 10.1186/s12920-022-01226-8

PMCID:: PMC9009051

Article PDF–2.5M

Select item 80360957.

De Novo mutation of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins: A case report

Lili Deng, Xingzhu Liu, Jieqing Min, Zhongjian Su, Yanfei Yang, Liping Ge, Zuozhen Yang, Bin Li, Xing Zhang

Medicine (Baltimore) 2021 Apr 9; 100(14): e25375. Published online 2021 Apr 9. doi: 10.1097/MD.0000000000025375

PMCID:: PMC8036095

Article PDF–576K

Select item 70807318.

A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis

Talal Alanzi, Amal Alhashem, Khalid Dagriri, Fatema Alzahrani, Fowzan S. Alkuraya

Eur J Hum Genet. 2020 Apr; 28(4): 525–528. Published online 2019 Sep 30. doi: 10.1038/s41431-019-0524-0

PMCID:: PMC7080731

Article PDF–1.8M

Select item 66059349.

BMPR1A mutation–positive juvenile polyposis syndrome and atrial septal defect: coincidence or association?

Rachel E Harris, Richard K Russell

BMJ Case Rep. 2019; 12(6): e229881. Published online 2019 Jun 21. doi: 10.1136/bcr-2019-229881

PMCID:: PMC6605934

Article PDF–155K

Select item 578128310.

Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report

Ruo-hao Wu, Dong-fang Li, Wen-ting Tang, Kun-yin Qiu, Yu Li, Xiong-yu Liao, Dan-xia Tang, Li-jun Qin, Bing-qing Deng, Xiang-yang Luo

J Med Case Rep. 2018; 12: 17. Published online 2018 Jan 24. doi: 10.1186/s13256-017-1528-4

PMCID:: PMC5781283

Article PDF–2.5M

Select item 541212211.

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease

Stephanie LaHaye, Don Corsmeier, Madhumita Basu, Jessica L. Bowman, Sara Fitzgerald-Butt, Gloria Zender, Kevin Bosse, Kim L. McBride, Peter White, Vidu Garg

Circ Cardiovasc Genet. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Circ Cardiovasc Genet. 2016 Aug; 9(4): 320–329. Published online 2016 Jul 14. doi: 10.1161/CIRCGENETICS.115.001324

PMCID:: PMC5412122

Article PDF–1.0M

Select item 485370412.

A gain-of-function ACTC1 3′UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect

Ye Wang, Xinwei Du, Zaiwei Zhou, Jun Jiang, Zhen Zhang, Lincai Ye, Haifa Hong

Sci Rep. 2016; 6: 25404. Published online 2016 May 3. doi: 10.1038/srep25404

PMCID:: PMC4853704

Article PDF–767K

Select item 476419513.

Gene network and familial analyses uncover a gene network involving Tbx5/Osr1/Pcsk6 interaction in the second heart field for atrial septation

Ke K. Zhang, Menglan Xiang, Lun Zhou, Jielin Liu, Nathan Curry, Damian Heine Suñer, Pablo Garcia-Pavia, Xiaohua Zhang, Qin Wang, Linglin Xie

Hum Mol Genet. 2016 Mar 15; 25(6): 1140–1151. Published online 2016 Jan 6. doi: 10.1093/hmg/ddv636

PMCID:: PMC4764195

Article PDF–972K

Select item 443292514.

GATA4 transgenic mice as an in vivo model of congenital heart disease

HUA HAN, YU CHEN, GANG LIU, ZENGQIANG HAN, ZHOU ZHAO, YIN TANG

Int J Mol Med. 2015 Jul; 35(6): 1545–1553. Published online 2015 Apr 9. doi: 10.3892/ijmm.2015.2178

PMCID:: PMC4432925

Article PDF–867K

Select item 439539415.

Association between the European GWAS-Identified Susceptibility Locus at Chromosome 4p16 and the Risk of Atrial Septal Defect: A Case-Control Study in Southwest China and a Meta-Analysis

Li Zhao, Bei Li, Ke Dian, Binwu Ying, Xiaojun Lu, Xuejiao Hu, Qi An, Chunxia Chen, Chunyan Huang, Bin Tan, Li Qin

PLoS One. 2015; 10(4): e0123959. Published online 2015 Apr 13. doi: 10.1371/journal.pone.0123959

PMCID:: PMC4395394

Article PDF–327K

Select item 371874116.

A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations

Siddharth Banka, William G Newman

Orphanet J Rare Dis. 2013; 8: 84. Published online 2013 Jun 13. doi: 10.1186/1750-1172-8-84

PMCID:: PMC3718741

Article PDF–3.0M

Select item 362839517.

Syndrome of Extreme Insulin Resistance (Rabson-Mendenhall Phenotype) with Atrial Septal Defect: Clinical Presentation and Treatment Outcomes

Deep Dutta, Indira Maisnam, Sujoy Ghosh, Satinath Mukhopadhyay, Subhankar Chowdhury

J Clin Res Pediatr Endocrinol. 2013 Mar; 5(1): 58–61. Published online 2013 Mar 21. doi: 10.4274/Jcrpe.857

PMCID:: PMC3628395

Article PDF–800K

Select item 337897518.

RNT4 3′-UTR Insertion/Deletion Polymorphisms Are Not Associated with Atrial Septal Defect in Chinese Han Population: A Brief Communication

Hui Li, Yu Chen, Bin Zhou, Ying Peng, Wenjuan Bai, Li Rao

DNA Cell Biol. 2012 Jun; 31(6): 1121–1124. doi: 10.1089/dna.2011.1386

PMCID:: PMC3378975

Article PDF–110K

Select item 323749919.

Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects

Maximilian G. Posch, Stephan Waldmuller, Melanie Müller, Thomas Scheffold, David Fournier, Miguel A. Andrade-Navarro, Bernard De Geeter, Sophie Guillaumont, Claire Dauphin, Dany Yousseff, Katharina R. Schmitt, Andreas Perrot, Felix Berger, Roland Hetzer, Patrice Bouvagnet, Cemil Özcelik

PLoS One. 2011; 6(12): e28872. Published online 2011 Dec 14. doi: 10.1371/journal.pone.0028872