Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Syndrome and NKX2-5[original query] |
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Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. Journal of the American College of Cardiology 2003 Jun 41 (11): 2072-6. Elliott David A, Kirk Edwin P, Yeoh Thomas, Chandar Suchitra, McKenzie Fiona, Taylor Peter, Grossfeld Paul, Fatkin Diane, Jones Owen, Hayes Peter, Feneley Michael, Harvey Richard |
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 |
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 |
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. Clinical genetics 2010 Dec 78 (6): 533-40. Stallmeyer B, Fenge H, Nowak-Göttl U, Schulze-Bahr |
R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease. Journal of cardiovascular medicine (Hagerstown, Md.) 2013 Aug 14 (8): 582-6. Beffagna Giorgia, Cecchetto Antonella, Dal Bianco Lucia, Lorenzon Alessandra, Angelini Annalisa, Padalino Massimo, Vida Vladimiro, Bhattacharya Shoumo, Stellin Giovanni, Rampazzo Alessandra, Daliento Lucia |
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 |
SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain : a journal of neurology 2013 Jan 136 (Pt 1): Pt 1. Peall KJ, Smith DJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine P, Bajaj N, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR |
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 |
Detection of Mycobacterium avium subspecies paratuberculosis in patients with Crohn's disease is unrelated to the presence of single nucleotide polymorphisms rs2241880 (ATG16L1) and rs10045431 (IL12B). Medical microbiology and immunology 2014 Jun 203 (3): 195-205. Dalton James P, Desmond Alan, Shanahan Fergus, Hill Col |
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 |
Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations. Movement disorders clinical practice 2019 2 6 (1): 34-39. Parnes Mered, Bashir Hassaan, Jankovic Jose |
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 |
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- Page last updated:Apr 22, 2024
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