HuGE Literature Finder
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| Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings. Frontiers in endocrinology 2022 4 13 810782. Globa Evgenia, Zelinska Natalia, Shcherbak Yulia, Bignon-Topalovic Joelle, Bashamboo Anu, M?Elreavey K |
| In-Silico and In-Vitro Analysis of Human SOS1 Protein Causing Noonan Syndrome - A Novel Approach to Explore the Molecular Pathways. Current genomics 2022 4 22 (7): 526-540. Sigamani Vinoth, Rajasingh Sheeja, Gurusamy Narasimman, Panda Arunima, Rajasingh Johns |
| A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve. Genetics and molecular biology 2020 12 43 (4): e20200142. Jiang Wei-Feng, Xu Ying-Jia, Zhao Cui-Mei, Wang Xin-Hua, Qiu Xing-Biao, Liu Xu, Wu Shao-Hui, Yang Yi-Qi |
| Genomic imbalances in syndromic congenital heart disease. Jornal de pediatria 2017 Mar . Molck Miriam C, Simioni Milena, Vieira Társis P, Sgardioli Ilária C, Monteiro Fabíola P, Souza Josiane, Fett-Conte Agnes C, Félix Têmis M, Monlléo Isabella L, Gil-da-Silva-Lopes Vera Lúc |
| Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis. Frontiers in physiology 2017 8 612. Giusti Betti, Sticchi Elena, De Cario Rosina, Magi Alberto, Nistri Stefano, Pepe Guglielmi |
| Phenotype and Tissue Expression as a Function of Genetic Risk in Polycystic Ovary Syndrome. PloS one 2017 12 (1): e0168870. Pau Cindy T, Mosbruger Tim, Saxena Richa, Welt Corrine |
| Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China. Mayo Clinic proceedings 2016 Oct . Zhang Liyong, Tester David J, Lang Di, Chen Yili, Zheng Jinxiang, Gao Rui, Corliss Robert F, Tang Shuangbo, Kyle John W, Liu Chao, Ackerman Michael J, Makielski Jonathan C, Cheng Jiandi |
| Variants in FSHB Are Associated With Polycystic Ovary Syndrome and Luteinizing Hormone Level in Han Chinese Women. The Journal of clinical endocrinology and metabolism 2016 Mar jc20153776. Tian Ye, Zhao Han, Chen Haitao, Peng Yingqian, Cui Linlin, Du Yanzhi, Wang Zhao, Xu Jianfeng, Chen Zi-Jia |
| Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects. Pediatric cardiology 2015 Apr 36 (4): 802-8. Alcántara-Ortigoza Miguel A, De Rubens-Figueroa Jesús, Reyna-Fabian Miriam E, Estandía-Ortega Bernardette, González-del Angel Ariadna, Molina-Álvarez Bertha, Velázquez-Aragón José A, Villagómez-Martínez Sandra, Pereira-López Gabriela I, Cruz-Martínez Víctor, Álvarez-Gómez Rosa M, García-Díaz Lui |
| DNA methylation abnormalities in congenital heart disease. Epigenetics 2015 1 10 (2): 167-77. Serra-Juhé Clara, Cuscó Ivon, Homs Aïda, Flores Raquel, Torán Núria, Pérez-Jurado Luis |
| Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot. American journal of medical genetics. Part A 2014 Dec 164A (12): 3100-7. Baban Anwar, Postma Alex Vincent, Marini Monica, Trocchio Gianluca, Santilli Antonella, Pelegrini Monica, Sirleto Pietro, Lerone Margherita, Albanese Sonia Bernadette, Barnett Phil, Boogerd Cornelis Job, Dallapiccola Bruno, Digilio Maria Cristina, Ravazzolo Roberto, Pongiglione Giaco |
| Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circulation research 2014 Oct 115 (10): 884-96. Glessner Joseph T, Bick Alexander G, Ito Kaoru, Homsy Jason G, Rodriguez-Murillo Laura, Fromer Menachem, Mazaika Erica, Vardarajan Badri, Italia Michael, Leipzig Jeremy, DePalma Steven R, Golhar Ryan, Sanders Stephan J, Yamrom Boris, Ronemus Michael, Iossifov Ivan, Willsey A Jeremy, State Matthew W, Kaltman Jonathan R, White Peter S, Shen Yufeng, Warburton Dorothy, Brueckner Martina, Seidman Christine, Goldmuntz Elizabeth, Gelb Bruce D, Lifton Richard, Seidman Jonathan, Hakonarson Hakon, Chung Wendy |
| Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. European journal of human genetics : EJHG 2012 Aug . Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL, Belmont JW |
| Aberrant gene promoter methylation associated with sporadic multiple colorectal cancer. PloS one 2010 1 5 (1): e8777. Gonzalo Victoria, Lozano Juan José, Muñoz Jenifer, Balaguer Francesc, Pellisé Maria, Rodríguez de Miguel Cristina, Andreu Montserrat, Jover Rodrigo, Llor Xavier, Giráldez M Dolores, Ocaña Teresa, Serradesanferm Anna, Alonso-Espinaco Virginia, Jimeno Mireya, Cuatrecasas Miriam, Sendino Oriol, Castellví-Bel Sergi, Castells Antoni, |
| Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease. Disease markers 2010 28 (5): 287-92. Guida Valentina, Lepri Francesca, Vijzelaar Raymon, De Zorzi Andrea, Versacci Paolo, Digilio Maria Cristina, Marino Bruno, De Luca Alessandro, Dallapiccola Bru |
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- Page last updated:Mar 28, 2023
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