Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 20 (of 20 Records) |
Query Trace: Atrioventricular Septal Defect[original query] |
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Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. Journal of medical genetics 2010 May 47 (5): 321-31. Rauch Ralf, Hofbeck Michael, Zweier Christiane, Koch Andreas, Zink Stefan, Trautmann Udo, Hoyer Juliane, Kaulitz Renate, Singer Helmut, Rauch Ani |
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. Genetic epidemiology 2010 Sep 34 (6): 613-23. Locke Adam E, Dooley Kenneth J, Tinker Stuart W, Cheong Soo Yeon, Feingold Eleanor, Allen Emily G, Freeman Sallie B, Torfs Claudine P, Cua Clifford L, Epstein Michael P, Wu Michael C, Lin Xihong, Capone George, Sherman Stephanie L, Bean Lora J |
Identification of GATA6 sequence variants in patients with congenital heart defects. Pediatric research 2010 Oct 68 (4): 281-5. Maitra Meenakshi, Koenig Sara N, Srivastava Deepak, Garg Vi |
Novel CRELD1 gene mutations in patients with atrioventricular septal defect. World journal of pediatrics : WJP 2010 Nov 6 (4): 348-52. Guo Ying, Shen Jie, Yuan Lang, Li Fen, Wang Jian, Sun K |
A genetic contribution to risk for postoperative junctional ectopic tachycardia in children undergoing surgery for congenital heart disease. Heart rhythm : the official journal of the Heart Rhythm Society 2011 Dec 8 (12): 1900-4. Borgman Kristie Y, Smith Andrew H, Owen Jill P, Fish Frank A, Kannankeril Prince |
A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India. Genetic testing and molecular biomarkers 0 15 (7-8): 483-7. Kusuma Lingaiah, Dinesh Sosalagere M, Savitha Mysore R, Krishnamurthy Balasundaram, Narayanappa Doddaiah, Ramachandra Nallur |
Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect. American journal of medical genetics. Part A 2012 Nov 158A (11): 2843-8. Ghosh Priyanka, Bhaumik Pranami, Ghosh Sujoy, Ozbek Umut, Feingold Eleanor, Maslen Cheryl, Sarkar Biswanath, Pramanik Vishmadeb, Biswas Priyanka, Bandyopadhyay Biswajit, Dey Subrata Kum |
Human gene copy number spectra analysis in congenital heart malformations. Physiological genomics 2012 Feb . Tomita-Mitchell A, Mahnke DK, Struble CA, Tuffnell ME, Stamm KD, Hidestrand M, Harris SE, Goetsch MA, Simpson PM, Bick DP, Broeckel U, Pelech AN, Tweddell JS, Mitchell ME |
Genetic abnormalities in FOXP1 are associated with congenital heart defects. Human mutation 2013 Sep 34 (9): 1226-30. Chang Sheng-Wei, Mislankar Mona, Misra Chaitali, Huang Nianyuan, Dajusta Daniel G, Harrison Steven M, McBride Kim L, Baker Linda A, Garg Vi |
A novel mutation of GATA4 (K300T) associated with familial atrial septal defect. Gene 2015 Sep . Chen Jia, Qi Bingyang, Zhao Juan, Liu Wei, Duan Ranhui, Zhang Mingq |
Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.
G3 (Bethesda, Md.) 2015 Jul . Ramachandran Dhanya, Zeng Zhen, Locke Adam E, Mulle Jennifer G, Bean Lora J H, Rosser Tracie C, Dooley Kenneth J, Cua Clifford L, Capone George T, Reeves Roger H, Maslen Cheryl L, Cutler David J, Feingold Eleanor, Sherman Stephanie L, Zwick Michael |
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect. Genetics in medicine : official journal of the American College of Medical Genetics 2015 May . D'Alessandro Lisa C A, Al Turki Saeed, Manickaraj Ashok Kumar, Manase Dorin, Mulder Barbara J M, Bergin Lynn, Rosenberg Herschel C, Mondal Tapas, Gordon Elaine, Lougheed Jane, Smythe John, Devriendt Koen, Bhattacharya Shoumo, Watkins Hugh, Bentham Jamie, Bowdin Sarah, Hurles Matthew E, Mital See |
Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study. BMJ open 2015 5 (12): e009352. Zhang Juan, Wu Qingqing, Wang Li, Li Xiaofei, Ma Yuqing, Yao Li |
Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease. Journal of human genetics 2015 Oct . Yoshida Akiko, Morisaki Hiroko, Nakaji Mai, Kitano Masataka, Kim Ki-Sung, Sagawa Koichi, Ishikawa Shiro, Satokata Ichiro, Mitani Yoshihide, Kato Hitoshi, Hamaoka Kenji, Echigo Shigeyuki, Shiraishi Isao, Morisaki Takayu |
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. PLoS genetics 2016 Apr 12 (4): e1005963. Priest James R, Osoegawa Kazutoyo, Mohammed Nebil, Nanda Vivek, Kundu Ramendra, Schultz Kathleen, Lammer Edward J, Girirajan Santhosh, Scheetz Todd, Waggott Daryl, Haddad Francois, Reddy Sushma, Bernstein Daniel, Burns Trudy, Steimle Jeffrey D, Yang Xinan H, Moskowitz Ivan P, Hurles Matthew, Lifton Richard P, Nickerson Debbie, Bamshad Michael, Eichler Evan E, Mital Seema, Sheffield Val, Quertermous Thomas, Gelb Bruce D, Portman Michael, Ashley Euan |
Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects. G3 (Bethesda, Md.) 2018 01 8 (1): 105-111. Rambo-Martin Benjamin L, Mulle Jennifer G, Cutler David J, Bean Lora J H, Rosser Tracie C, Dooley Kenneth J, Cua Clifford, Capone George, Maslen Cheryl L, Reeves Roger H, Sherman Stephanie L, Zwick Michael |
CRELD1 gene variants and atrioventricular septal defects in Down syndrome. Gene 2017 10 641 180-185. Asim Ambreen, Agarwal Sarita, Panigrahi Inusha, Sarangi Aditya Narayan, Muthuswamy Srinivasan, Kapoor Adit |
Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 11 58 (3): 377-387. Qiao F, Wang Y, Zhang C, Zhou R, Wu Y, Wang C, Meng L, Mao P, Cheng Q, Luo C, Hu P, Xu |
Contribution of LRP1 in Human Congenital Heart Disease Correlates with Its Roles in the Outflow Tract and Atrioventricular Cushion Development. Genes 2023 4 14 (4): . Angelo B Arrigo, Wenjuan Zhu, Kylia A Williams, Carla Guzman-Moreno, Cecilia Lo, Jiuann-Huey I L |
Rare copy number variation analysis identifies disease-related variants in atrioventricular septal defect patients. Frontiers in genetics 2023 2 14 1075349. Hu Huan, Geng Zilong, Zhang Shasha, Xu Yuejuan, Wang Qingjie, Chen Sun, Zhang Bing, Sun Kun, Lu Yan |
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