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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Disease and TBX2[original query]
Novel and functional sequence variants within the TBX2 gene promoter in ventricular septal defects.
Biochimie 2013 Sep 95 (9): 1807-9.
Pang Shuchao, Liu Yumei, Zhao Zhongqing, Huang Wenhui, Chen Dongfeng, Yan
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
Journal of medical genetics 2013 Aug 50 (8): 500-6.
Kerstjens-Frederikse Wilhelmina S, Bongers Ernie M H F, Roofthooft Marcus T R, Leter Edward M, Douwes J Menno, Van Dijk Arie, Vonk-Noordegraaf Anton, Dijk-Bos Krista K, Hoefsloot Lies H, Hoendermis Elke S, Gille Johan J P, Sikkema-Raddatz Birgit, Hofstra Robert M W, Berger Rolf M
Genome-wide association analysis identifies multiple loci associated with kidney disease-related traits in Korean populations. GWAS Catalog
PloS one 2018 13 (3): e0194044.
Lee Jeonghwan, Lee Young, Park Boram, Won Sungho, Han Jin Suk, Heo Nam
A regulatory variant in TBX2 promoter is related to the decreased susceptibility of congenital heart disease in the Han Chinese population.
Molecular genetics & genomic medicine 2019 02 7 (2): e00530.
Zhang Ran-Ran, Cai Ke, Liu Lian, Yang Qian, Zhang Ping, Gui Yong-Hao, Wang Fe
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
PLoS genetics 2021 8 17 (8): e1009698.
Kuil Laura E, MacKenzie Katherine C, Tang Clara S, Windster Jonathan D, Le Thuy Linh, Karim Anwarul, de Graaf Bianca M, van der Helm Robert, van Bever Yolande, Sloots Cornelius E J, Meeussen Conny, Tibboel Dick, de Klein Annelies, Wijnen René M H, Amiel Jeanne, Lyonnet Stanislas, Garcia-Barcelo Maria-Mercè, Tam Paul K H, Alves Maria M, Brooks Alice S, Hofstra Robert M W, Brosens Erw
Sex-Specific Features of the Correlation between GWAS-Noticeable Polymorphisms and Hypertension in Europeans of Russia.
International journal of molecular sciences 2023 5 24 (9): .
Tatiana Ivanova, Maria Churnosova, Maria Abramova, Denis Plotnikov, Irina Ponomarenko, Evgeny Reshetnikov, Inna Aristova, Inna Sorokina, Mikhail Churnos
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