Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Syndrome and GNAQ[original query] |
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| A functional GNAQ promoter haplotype is associated with altered Gq expression and with insulin resistance and obesity in women with polycystic ovary syndrome. Pharmacogenetics and genomics 2010 Aug 20 (8): 476-84. Klenke Stefanie, Tan Susanne, Hahn Susanne, Mann Klaus, Hauner Hans, Manthey Iris, Peters Jürgen, Siffert Winfried, Frey Ulrich |
| Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. The New England journal of medicine 2013 May 368 (21): 1971-9. Shirley Matthew D, Tang Hao, Gallione Carol J, Baugher Joseph D, Frelin Laurence P, Cohen Bernard, North Paula E, Marchuk Douglas A, Comi Anne M, Pevsner Jonath |
| Pathway Analysis Based on a Genome-Wide Association Study of Polycystic Ovary Syndrome. PloS one 2015 10 (8): e0136609. Shim Unjin, Kim Han-Na, Lee Hyejin, Oh Jee-Young, Sung Yeon-Ah, Kim Hyung-L |
| GNAQ Mutations in Diffuse and Solitary Choroidal Hemangiomas. Ophthalmology 2018 12 126 (5): 759-763. Francis Jasmine H, Milman Tatyana, Grossniklaus Hans, Albert Daniel, Folberg Robert, Levitin Gregory, Coupland Sarah, Catalanotti Federica, Rabady David, Kandoth Cyriac, Busam Klaus, Abramson Dav |
| Klippel-Trenaunay and Sturge-Weber Overlap Syndrome with KRAS and GNAQ mutations. Annals of clinical and translational neurology 2020 Jul . He Ruojie, Liao Songjie, Yao Xiaoli, Huang Ruxun, Zeng Jinsheng, Zhang Jian, Yu Ji |
| Clinical and genetic analyses of patients with lateralized overgrowth. BMC medical genomics 2022 9 15 (1): 206. Kim Yoon-Myung, Lee Yena, Choi Yunha, Choi In Hee, Heo Sun Hee, Choi Jung Min, Do Hyo-Sang, Jang Ja-Hyun, Yum Mi-Sun, Yoo Han-Wook, Lee Beom H |
| Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations. Orphanet journal of rare diseases 2023 9 18 (1): 261. Bin Zhang, Rui He, Zigang Xu, Yujuan Sun, Li Wei, Li Li, Yuanxiang Liu, Wu Guo, Li Song, Huijun Wang, Zhimiao Lin, Lin |
| Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis. Acta neuropathologica communications 2024 1 12 (1): 14. Haruhiko Takahashi, Manabu Natsumeda, Norikazu Hara, Akihide Koyama, Hiroshi Shimizu, Akinori Miyashita, Daiken Satake, Yoshihiro Mouri, Jun Tsukano, Keita Kawabe, Yoshihiro Tsukamoto, Masayasu Okada, Ryosuke Ogura, Akihiko Yuki, Hajime Umezu, Akiyoshi Kakita, Takeshi Ikeuchi, Makoto Ois |
| Clinical and pathologic features of Sturge-Weber syndrome in patients with refractory epilepsy. American journal of clinical pathology 2024 1 . Zejun Duan, Ke Xu, Mingguo Xie, Xiaolin Tian, Xiongfei Wang, Jing Feng, Yuguang Guan, Jian Zhou, Guoming Luan, Xueling Qi, Dehong |
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