Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 131 Records) |
Query Trace: GNAQ[original query] |
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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 |
Whole-Genome Sequencing Identified KCNJ12 and SLC25A5 Mutations in Port-Wine Stains. Frontiers in medicine 2022 8 9 905902. Chen Kai, Hu Yan-Yan, Wang Lin-Lin, Xia Yun, Jiang Qian, Sun Lan, Qian Shan-Shan, Wu Jin-Zhao, Chen Liu-Qing, Li Dong-She |
Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer. Current oncology (Toronto, Ont.) 2022 Jun 29 (7): 4428-4437. Kuang Shelley, Fung Andrea S, Perdrizet Kirstin A, Chen Kaitlin, Li Janice J N, Le Lisa W, Cabanero Michael, Karsaneh Ola Abu Al, Tsao Ming S, Morganstein Josh, Ranich Laura, Smith Adam C, Wei Cuihong, Cheung Carol, Shepherd Frances A, Liu Geoffrey, Bradbury Penelope, Pal Prodipto, Schwock Joerg, Sacher Adrian G, Law Jennifer H, Stockley Tracy L, Leighl Natasha |
Whole-exome sequencing identified mutational profiles of urothelial carcinoma post kidney transplantation. Journal of translational medicine 2022 7 20 (1): 324. Lim Lee-Moay, Chung Wen-Yu, Hwang Daw-Yang, Yu Chih-Chuan, Ke Hung-Lung, Liang Peir-In, Lin Ting-Wei, Cheng Siao Muk, Huang A-Mei, Kuo Hung-Ti |
Local recurrence of uveal melanoma and concomitant brain metastases associated with an activating telomerase promoter mutation seven years after secondary enucleation. American journal of ophthalmology case reports 2022 6 27 101607. Heng Jacob S, Perzia Brittany M, Sinard John H, Pointdujour-Lim Renel |
Mutation spectrum in GNAQ and GNA11 in Chinese uveal melanoma. Precision clinical medicine 2022 6 2 (4): 213-220. Zhang Edward D, Zhang Meixia, Li Gen, Zhang Charlotte L, Li Zhihuan, Zang Guangxi, Su Zhiguang, Zhang Ming, Xiang Daoman, Zhao Ling, Zhu J |
Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma. International journal of molecular sciences 2022 6 23 (11): . Im Deborah H, Peng Chen-Ching, Xu Liya, Kim Mary E, Ostrow Dejerianne, Yellapantula Venkata, Bootwalla Moiz, Biegel Jaclyn A, Gai Xiaowu, Prabakar Rishvanth K, Kuhn Peter, Hicks James, Berry Jesse |
BRAF, NRAS, KIT, TERT, GNAQ/GNA11 Mutation Profile and Histomorphological Analysis of Anorectal Melanomas: A Clinicopathologic Study. Turk patoloji dergisi 2022 6 39 (1): 23-30. Taskin Orhun Cig, Sari Sule Ozturk, Yilmaz Ismail, Hurdogan Ozge, Keskin Metin, Buyukbabani Nesimi, Gulluoglu Mi |
Comprehensive Molecular Profiling of Colorectal Cancer With Situs Inversus Totalis by Next-Generation Sequencing. Frontiers in oncology 2022 12 813253. Li Hongsen, Gong Liu, Cheng Huanqing, Wang Huina, Zhang Xiaochen, Rao Chuangzhou, Song Zhangfa, Wang Da, Lou Haizhou, Lou Feng, Cao Shanbo, Pan Hongming, Fang Yo |
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. Journal of medical genetics 2022 3 60 (2): 163-173. Mussa Alessandro, Leoni Chiara, Iacoviello Matteo, Carli Diana, Ranieri Carlotta, Pantaleo Antonino, Buonuomo Paola Sabrina, Bagnulo Rosanna, Ferrero Giovanni Battista, Bartuli Andrea, Melis Daniela, Maitz Silvia, Loconte Daria Carmela, Turchiano Antonella, Piglionica Marilidia, De Luisi Annunziata, Susca Francesco Claudio, Bukvic Nenad, Forleo Cinzia, Selicorni Angelo, Zampino Giuseppe, Onesimo Roberta, Cappuccio Gerarda, Garavelli Livia, Novelli Chiara, Memo Luigi, Morando Carla, Della Monica Matteo, Accadia Maria, Capurso Martina, Piscopo Carmelo, Cereda Anna, Di Giacomo Marilena Carmela, Saletti Veronica, Spinelli Alessandro Mauro, Lastella Patrizia, Tenconi Romano, Dvorakova Veronika, Irvine Alan D, Resta Nicolet |
Next-generation Sequencing as a Potential Diagnostic Adjunct in Distinguishing Between Desmoplastic Melanocytic Neoplasms. The American journal of surgical pathology 2022 11 . Roth Andrew, Boutko Anastasiya, Lampley Nathaniel, Dhillon Soneet, Hagstrom Michael, Olivares Shantel, Dittman David, Jennings Lawrence, Santana Dos Santos Lucas, Busam Klaus, Gerami Pedr |
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 |
Clinical significance of genetic profiling based on different anatomic sites in patients with mucosal melanoma who received or did not receive immune checkpoint inhibitors. Cancer cell international 2023 8 23 (1): 187. Hai-Yun Wang, Ye Liu, Ling Deng, Kuntai Jiang, Xin-Hua Yang, Xiao-Yan Wu, Kai-Hua Guo, Fang Wa |
BRAF mutations and concurrent alterations in patients with soft tissue sarcoma. Genes, chromosomes & cancer 2023 6 . Hiroshi Kobayashi, Liuzhe Zhang, Koichi Okajima, Yuki Ishibashi, Toshihide Hirai, Yusuke Tsuda, Masachika Ikegami, Hidenori Kage, Aya Shinozaki-Ushiku, Katsutoshi Oda, Sakae Tana |
Trametinib in Patients With NF1-, GNAQ-, or GNA11-Mutant Tumors: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols S1 and S2. JCO precision oncology 2023 4 7 e2200421. Wisinski Kari B, Flamand Yael, Wilson Melissa A, Luke Jason J, Tawbi Hussein A, Hong Fangxin, Mitchell Edith P, Zwiebel James A, Chen Helen, Gray Robert J, Li Shuli, McShane Lisa M, Rubinstein Lawrence V, Patton David, Williams P Mickey, Hamilton Stanley R, Behrens Robert J, Pennington Kathryn P, Conley Barbara A, Arteaga Carlos L, Harris Lyndsay N, O'Dwyer Peter J, Chen Alice P, Flaherty Keith |
Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting. International journal of molecular sciences 2023 3 24 (5): . Vanni Irene, Pastorino Lorenza, Tanda Enrica Teresa, Andreotti Virginia, Dalmasso Bruna, Solari Nicola, Mascherini Matteo, Cabiddu Francesco, Guadagno Antonio, Coco Simona, Allavena Eleonora, Bruno William, Pietra Gabriella, Croce Michela, Gangemi Rosaria, Piana Michele, Zoppoli Gabriele, Ferrando Lorenzo, Spagnolo Francesco, Queirolo Paola, Ghiorzo Pao |
Driver mutations in GNAQ and GNA11 genes as potential targets for precision immunotherapy in uveal melanoma patients. Oncoimmunology 2023 12 12 (1): 2261278. Sandra García-Mulero, Roberto Fornelino, Marco Punta, Stefano Lise, Mar Varela, Luis P Del Carpio, Rafael Moreno, Marcel Costa-García, Dietmar Rieder, Zlatko Trajanoski, Alena Gros, Ramón Alemany, Josep María Piulats, Rebeca Sanz-Pamplo |
Comprehensive genomic profiling reveals prognostic signatures and insights into the molecular landscape of colorectal cancer. Frontiers in oncology 2023 11 13 1285508. Jinwei Yang, Sihui Zhao, Junyan Su, Siyao Liu, Zaozao Wu, Wei Ma, Ming Tang, Jingcui Wu, Erdong Mao, Li Han, Mengyuan Liu, Jiali Zhang, Lei Cao, Jingyi Shao, Yun Sha |
A Phase I Study of the CDK4/6 Inhibitor, Palbociclib in Combination with Cetuximab and Radiotherapy (IMRT) for Locally Advanced Head and Neck Squamous Cell Carcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 11 . Nuttapong Ngamphaiboon, Poompis Pattaranutaporn, Somthawin Lukerak, Teerada Siripoon, Artit Jinawath, Lalida Arsa, Prapimporn Ch Shantavasinkul, Naphat Taonam, Narumol Trachu, Natini Jinawath, Arpakorn Kositwattanarerk, Thiparom Sananmuang, Chuleeporn Jiarpinitn |
Single-Nucleotide Polymorphism in Genes Encoding G Protein Subunits GNB3 and GNAQ Increase the Risk of Cardiovascular Morbidity among Patients Undergoing Renal Replacement Therapy. International journal of molecular sciences 2023 10 24 (20): . Simon Birkner, Birte Möhlendick, Benjamin Wilde, Kristina Schoenfelder, Kristina Boss, Winfried Siffert, Andreas Kribben, Justa Friebus-Karda |
Association between Downstream Taste Signaling Genes, Oral Microbiome, and Severe Early Childhood Caries. International journal of molecular sciences 2023 1 24 (1): . de Jesus Vivianne Cruz, Mittermuller Betty-Anne, Hu Pingzhao, Schroth Robert J, Chelikani Prash |
Molecular profiling of primary uveal melanoma: results of a Polish cohort. Melanoma research 2023 1 33 (2): 104-115. Kowalik Artur, Karpinski Pawel, Markiewicz Anna, Orlowska-Heitzman Jolanta, Romanowska-Dixon Bozena, Donizy Piotr, Hoang Mai |
Genomic landscape of cutaneous, acral, mucosal, and uveal melanoma in Japan: analysis of clinical comprehensive genomic profiling data. International journal of clinical oncology 2024 9 . Tokimasa Hida, Junji Kato, Masashi Idogawa, Takashi Tokino, Hisashi Uha |
Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma. Pigment cell & melanoma research 2024 9 . Pauliina E Repo, Eveliina Jakkula, Juho Hiltunen, Heidi Putkuri, Aleksandra Staskiewicz-Tuikkanen, Reetta-Stiina Järvinen, Martin Täll, Virpi Raivio, Rana'a T Al-Jamal, Tero T Kivelä, Joni A Turun |
Impact of Driver Mutations on Metastasis-Free Survival in Uveal Melanoma: A Meta-Analysis. Cancers 2024 7 16 (14): . David Lamas-Francis, Carmen Antía Rodríguez-Fernández, Elia de Esteban-Maciñeira, Paula Silva-Rodríguez, María Pardo, Manuel Bande-Rodríguez, María José Blanco-Teijei |
Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis. Pediatric investigation 2024 6 8 (2): 117-125. Bin Zhang, Rui He, Riga Wu, Zhou Yang, Man Hu, Nan Zhang, Wu Guo, Zigang Xu, Lin |
Clinical and genetic characteristics of BAP1-mutated non-uveal and uveal melanoma. Frontiers in immunology 2024 6 15 1383125. Johanna Matull, Jan-Malte Placke, Georg Lodde, Anne Zaremba, Jochen Utikal, Patrick Terheyden, Claudia Pföhler, Rudolf Herbst, Alexander Kreuter, Julia Welzel, Julia Kretz, Inga Möller, Antje Sucker, Annette Paschen, Elisabeth Livingstone, Lisa Zimmer, Eva Hadaschik, Selma Ugurel, Dirk Schadendorf, Carl Maximilian Thielmann, Klaus Georg Griewa |
The Pediatric and Young Adult Choroidal and Ciliary Body Melanoma Genetic Study, A Survey by the European Ophthalmic Oncology Group. Investigative ophthalmology & visual science 2024 4 65 (4): 12. Natasha M van Poppelen, Nathalie Cassoux, Joni A Turunen, Nicole C Naus, Robert M Verdijk, Jolanda Vaarwater, Victoria Cohen, Vasilios P Papastefanou, Hayyam Kiratli, Svetlana V Saakyan, Alexander Y Tsygankov, Iwona Rospond-Kubiak, Hardeep S Mudhar, Sachin M Salvi, Jens F Kiilgaard, Steffen Heegaard, Alexandre P Moulin, Maria A Saornil, Ciro Garciá-Alvarez, Maria Fili, Nils A Eide, Peter Meyer, Tero T Kivelä, Annelies de Klein, Emine Kilic, Rana'a T Al-Jam |
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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