Human Genome Epidemiology Literature Finder
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Records 1 - 13 (of 13 Records) |
| Query Trace: Disease and GLI3[original query] |
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| Mutational analysis of SHH and GLI3 in anorectal malformations. Birth defects research. Part A, Clinical and molecular teratology 2008 Sep 82 (9): 644-8. Garcia-Barceló Maria-Mercè, Chi-Hang Lui Vincent, Miao Xiaoping, So Man-ting, Yuk-yu Leon Thomas, Yuan Zhen-wei, Li Long, Liu Lei, Wang Bin, Sun Xiao-bing, Huang Liu-Ming, Tou Jin-fa, Sau-wai Ngan Elly, Cherny Stacey S, Chan Kin-wai, Lee Kim-hung, Wang Weiling, Kak-yuen Wong Kenneth, Kwong-hang Tam Pa |
| Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer. Nature genetics 2014 Jun 46 (6): 573-82. Wang Kai, Yuen Siu Tsan, Xu Jiangchun, Lee Siu Po, Yan Helen H N, Shi Stephanie T, Siu Hoi Cheong, Deng Shibing, Chu Kent Man, Law Simon, Chan Kok Hoe, Chan Annie S Y, Tsui Wai Yin, Ho Siu Lun, Chan Anthony K W, Man Jonathan L K, Foglizzo Valentina, Ng Man Kin, Chan April S, Ching Yick Pang, Cheng Grace H W, Xie Tao, Fernandez Julio, Li Vivian S W, Clevers Hans, Rejto Paul A, Mao Mao, Leung Suet |
| Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. American journal of human genetics 2016 Jul . Hildebrand Michael S, Griffin Nicole G, Damiano John A, Cops Elisa J, Burgess Rosemary, Ozturk Ezgi, Jones Nigel C, Leventer Richard J, Freeman Jeremy L, Harvey A Simon, Sadleir Lynette G, Scheffer Ingrid E, Major Heather, Darbro Benjamin W, Allen Andrew S, Goldstein David B, Kerrigan John F, Berkovic Samuel F, Heinzen Erin |
| Associations of the calcium-sensing receptor gene CASR rs7652589 SNP with nephrolithiasis and secondary hyperparathyroidism in haemodialysis patients. Scientific reports 2016 Oct 6 35188. Grzegorzewska Alicja E, Paciorkowski Mateusz, Mostowska Adrianna, Frycz Bartosz, Warcho? Wojciech, Stolarek Ireneusz, Figlerowicz Marek, Jagodzi?ski Pawe? |
Genome-wide association study of language performance in Alzheimer's disease.
Brain and language 2017 May . Deters Kacie D, Nho Kwangsik, Risacher Shannon L, Kim Sungeun, Ramanan Vijay K, Crane Paul K, Apostolova Liana G, Saykin Andrew J, |
| Clonal Architectures Predict Clinical Outcome in Gastric Adenocarcinoma Based on Genomic Variation, Tumor Evolution, and Heterogeneity. Cell transplantation 0 30 963689721989606. Ren Chenxia, Wu Cuiling, Wang Niuniu, Lian Changhong, Yang Changqi |
| Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance. Frontiers in endocrinology 2021 1 11 582516. Li Lele, Gao Fenqi, Fan Lijun, Su Chang, Liang Xuejun, Gong ChunX |
| Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. Human molecular genetics 2022 2 31 (14): 2307-2316. Green Timothy E, Motelow Joshua E, Bennett Mark F, Ye Zimeng, Bennett Caitlin A, Griffin Nicole G, Damiano John A, Leventer Richard J, Freeman Jeremy L, Harvey A Simon, Lockhart Paul J, Sadleir Lynette G, Boys Amber, Scheffer Ingrid E, Major Heather, Darbro Benjamin W, Bahlo Melanie, Goldstein David B, Kerrigan John F, Heinzen Erin L, Berkovic Samuel F, Hildebrand Michael |
| Thirty novel sequence variants impacting human intracranial volume. Brain communications 2022 11 4 (6): fcac271. Nawaz Muhammad Sulaman, Einarsson Gudmundur, Bustamante Mariana, Gisladottir Rosa S, Walters G Bragi, Jonsdottir Gudrun A, Skuladottir Astros Th, Bjornsdottir Gyda, Magnusson Sigurdur H, Asbjornsdottir Bergrun, Unnsteinsdottir Unnur, Sigurdsson Engilbert, Jonsson Palmi V, Palmadottir Vala Kolbrun, Gudjonsson Sigurjon A, Halldorsson Gisli H, Ferkingstad Egil, Jonsdottir Ingileif, Thorleifsson Gudmar, Holm Hilma, Thorsteinsdottir Unnur, Sulem Patrick, Gudbjartsson Daniel F, Stefansson Hreinn, Thorgeirsson Thorgeir E, Ulfarsson Magnus O, Stefansson Ka |
| Genome-wide association identifies novel ROP risk loci in a multi-ethnic cohort. Research square 2023 6 . Jerome Rotter, Xiaohui Li, Leah A Owen, Kent Taylor, Susan Ostmo, Yii-Der Ida Chen, Aaron Coyner, Kemal Sonmez, M Elizabeth Hartnett, Xiuqing Guo, Eli Ipp, Kathryn Roll, Pauline Genter, R V Paul Chan, Margaret DeAngelis, Michael Chiang, J Peter Campbe |
| ATRX is a predictive marker for endocrinotherapy and chemotherapy resistance in HER2-/HR+ breast cancer through the regulation of the AR, GLI3 and GATA2 transcriptional network. Aging 2023 12 15 . Hongyan Qian, Rui Ji, Cheng Shen, Yinze Wei, Chenyi Sheng, Qichao Ni, Jing Pan, Yifan Chi, Huan You, Ying Miao, Minxin Shi, Xianghua Huang, Aiguo Sh |
| Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants. Neurology. Genetics 2024 9 10 (5): e200180. Lina Sami, Mathilde Chipaux, Sarah Ferrand-Sorbets, Marion Doladilhe, Christine Bulteau, Emmanuel Raffo, Sarah Rosenberg, Georg Dorfmuller, Rayann Checri, Jean-Madeleine De Sainte Agathe, Eric Leguern, Homa Adle-Biassette, Sara Baldassari, Stephanie Baul |
| Genome-wide association identifies novel ROP risk loci in a multiethnic cohort. Communications biology 2024 1 7 (1): 107. Xiaohui Li, Leah A Owen, Kent D Taylor, Susan Ostmo, Yii-Der Ida Chen, Aaron S Coyner, Kemal Sonmez, M Elizabeth Hartnett, Xiuqing Guo, Eli Ipp, Kathryn Roll, Pauline Genter, R V Paul Chan, Margaret M DeAngelis, Michael F Chiang, J Peter Campbell, Jerome I Rotter, |
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