Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 25 (of 25 Records) |
| Query Trace: Transposition Of The Great Arteries[original query] |
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| CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. American journal of human genetics 2002 1 70 (3): 776-80. Goldmuntz Elizabeth, Bamford Richard, Karkera Jayaprakash D, dela Cruz June, Roessler Erich, Muenke Maximili |
| BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease. The European respiratory journal 2004 Sep 24 (3): 371-4. Roberts K E, McElroy J J, Wong W P K, Yen E, Widlitz A, Barst R J, Knowles J A, Morse J |
| Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy? The Journal of thoracic and cardiovascular surgery 2010 Dec 140 (6): 1230-7. Gaynor J William, Gerdes Marsha, Nord Alex S, Bernbaum Judy, Zackai Elaine, Wernovsky Gil, Clancy Robert R, Heagerty Patrick J, Solot Cynthia B, McDonald-McGinn Donna, Jarvik Gail |
| The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle. American journal of medical genetics. Part A 2013 Apr 161A (4): 792-802. D'Alessandro Lisa C A, Latney Brande C, Paluru Prasuna C, Goldmuntz Elizabe |
| Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects. American journal of medical genetics. Part A 2014 Feb 164A (2): 397-406. Osoegawa Kazutoyo, Iovannisci David M, Lin Bin, Parodi Christina, Schultz Kathleen, Shaw Gary M, Lammer Edward |
| Analysis of mutations in 7 candidate genes for dextro-Transposition of the great arteries in Chinese population. Journal of thoracic disease 2014 May 6 (5): 491-6. Lei Liming, Lin Haoming, Zhong Shilong, Zhang Zhiwei, Chen Jimei, Li Xin-Xin, Yu Xiyong, Liu Xaioqing, Zhuang Ji |
| Novel PITX2c loss-of-function mutations associated with complex congenital heart disease. International journal of molecular medicine 2014 May 33 (5): 1201-8. Wei Dong, Gong Xiao-Hui, Qiu Gang, Wang Juan, Yang Yi-Qi |
| Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries. International journal of cardiology 2015 Nov 204 115-121. Costain Gregory, Lionel Anath C, Ogura Lucas, Marshall Christian R, Scherer Stephen W, Silversides Candice K, Bassett Anne |
| DNA methyltransferase 1 rs16999593 genetic polymorphism decreases risk in patients with transposition of great arteries. Gene 2017 Mar . Lei Liming, Lin Haoming, Zhong Shilong, Zhang Zhiwei, Chen Jimei, Yu Xiyong, Liu Xiaoqing, Zhang Cheng, Nie Zhiqiang, Zhuang Ji |
| TBX1 loss-of-function mutation contributes to congenital conotruncal defects. Experimental and therapeutic medicine 2017 12 15 (1): 447-453. Zhang Min, Li Fu-Xing, Liu Xing-Yuan, Hou Jing-Yi, Ni Shi-Hong, Wang Juan, Zhao Cui-Mei, Zhang Wei, Kong Ye, Huang Ri-Tai, Xue Song, Yang Yi-Qi |
| Two Brothers With Dextro-Transposition of the Great Arteries. World journal for pediatric & congenital heart surgery 2018 6 11 (4): NP155-NP157. Kurtz Joshua D, Boucek Katerina, Kavarana Minoo, Atz Andrew |
| Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries. PloS one 2018 2 13 (2): e0191605. Zahid Maliha, Bais Abha, Tian Xin, Devine William, Lee Dong Ming, Yau Cyrus, Sonnenberg Daniel, Beerman Lee, Khalifa Omar, Lo Cecilia |
| Transposition of the great arteries - a phenotype associated with 16p11.2 duplications? World journal of cardiology 2018 1 9 (12): 848-852. Karunanithi Zarmiga, Vestergaard Else Marie, Lauridsen Mette |
| Identification and analysis of KLF13 variants in patients with congenital heart disease. BMC medical genetics 2020 4 21 (1): 78. Li Wenjuan, Li Baolei, Li Tingting, Zhang Ergeng, Wang Qingjie, Chen Sun, Sun K |
| Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis. Molecular vision 2020 3 26 26-35. Surl Dongheon, Shin Saeam, Lee Seung-Tae, Choi Jong Rak, Lee Junwon, Byeon Suk Ho, Han Sueng-Han, Lim Hyun Taek, Han Ji |
Congenital heart disease risk loci identified by genome-wide association study in European patients.
The Journal of clinical investigation 2020 Nov . Lahm Harald, Jia Meiwen, Dreßen Martina, Wirth Felix, Puluca Nazan, Gilsbach Ralf, Keavney Bernard D, Cleuziou Julie, Beck Nicole, Bondareva Olga, Dzilic Elda, Burri Melchior, König Karl C, Ziegelmüller Johannes A, Abou-Ajram Claudia, Neb Irina, Zhang Zhong, Doppler Stefanie A, Mastantuono Elisa, Lichtner Peter, Eckstein Gertrud, Hörer Jürgen, Ewert Peter, Priest James R, Hein Lutz, Lange Rüdiger, Meitinger Thomas, Cordell Heather J, Müller-Myhsok Bertram, Krane Mark |
| A Non-coding HES1 Variant Predisposes Children to Congenital Heart Disease in Chinese Population. Frontiers in cell and developmental biology 2021 2 9 631942. Song Yangliu, Chen Weicheng, Huang Zitong, Tian Guixiang, Li Mengru, Zhao Zhengshan, Feng Zhiyu, Wu Feizhen, Qian Maoxiang, Ma Xiaojing, Sheng Wei, Huang Guoyi |
| Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects. Birth defects research 2021 Feb . Padula Amy M, Yang Wei, Schultz Kathleen, Lee Cecilia, Lurmann Fred, Hammond S Katharine, Shaw Gary |
| Common genetic variants improve risk stratification after the atrial switch operation for transposition of the great arteries. International journal of cardiology 2022 Sep . Woudstra Odilia I, Skoric-Milosavljevic Doris, Mulder Barbara J M, Meijboom Folkert J, Post Marco C, Jongbloed Monique R M, van Dijk Arie P J, van Melle Joost P, Konings Thelma C, Postma Alex V, Bezzina Connie R, Bouma Berto J, Tanck Michael W |
| Different outcomes of balloon atrial septostomy and the association of C677T polymorphism in MTHFR gene on TGA children. Cellular and molecular biology (Noisy-le-Grand, France) 2022 Jan 67 (4): 24-32. Salih Aso Faeq, NazdarAmin Banan |
| Associations between IL-1?, IL-1?, TNF?, and IL-6 variations, and susceptibility to transposition of the great arteries. BMC cardiovascular disorders 2022 May 22 (1): 229. Atasoy Karakas Latife, Tugrul Duygu, Sahin Uysal Nihal, Esin Sertac, Tokel Niyazi Kursat, Terzi Yunus Kas |
| A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect. Prenatal diagnosis 2022 12 43 (3): 275-279. Wang Yu, Dai Xiaohui, Liu Hanmin, Peng Jin, Chen Ji |
| Prevalence of genetic variants in pediatric pulmonary arterial hypertension associated with corrected D-transposition of the great arteries. The REHIPED registry. Revista espanola de cardiologia (English ed.) 2022 Jan . Cruz-Utrilla Alejandro, Gallego Natalia, Torrent-Vernetta Alba, Guillén Inmaculada, Escribano Subias María Pilar, Del Cerro Marín María Jes |
| Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries. Genes 2022 Sep 13 (9): . De Ita Marlon, Gaytán-Cervantes Javier, Cisneros Bulmaro, Araujo María Antonieta, Huicochea-Montiel Juan Carlos, Cárdenas-Conejo Alan, Lazo-Cárdenas Charles César, Ramírez-Portillo César Iván, Feria-Kaiser Carina, Peregrino-Bejarano Leoncio, Yáñez-Gutiérrez Lucelli, González-Torres Carolina, Rosas-Vargas Hayd |
| NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome medicine 2024 4 16 (1): 53. Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R Lupski, Zeynep Coban-Akdemir, Shaine A Morr |
- Page last reviewed:Feb 1, 2024
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