Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 44 Records) |
Query Trace: PAX3[original query] |
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Copy number alterations determined by single nucleotide polymorphism array testing in the clinical laboratory are indicative of gene fusions in pediatric cancer patients. Genes, chromosomes & cancer 2017 Jun . Busse Tracy M, Roth Jacquelyn J, Wilmoth Donna, Wainwright Luanne, Tooke Laura, Biegel Jaclyn |
Variants in the host genome may inhibit tumour growth in devil facial tumours: evidence from genome-wide association. Scientific reports 2017 Mar 7 (1): 423. Wright Belinda, Willet Cali E, Hamede Rodrigo, Jones Menna, Belov Katherine, Wade Claire |
Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families. Molecular medicine reports 2017 11 17 (1): 172-178. Wang Li, Qin Litao, Li Tao, Liu Hongjian, Ma Lingcao, Li Wan, Wu Dong, Wang Hongdan, Guo Qiannan, Guo Liangjie, Liao Shix |
Association analysis of KIT, MITF, and PAX3 variants with white markings in Spanish horses. Animal genetics 2017 1 48 (3): 349-352. Negro S, Imsland F, Valera M, Molina A, Solé M, Andersson |
Replication Study for the Association of GWAS-associated Loci With Adolescent Idiopathic Scoliosis Susceptibility and Curve Progression in a Chinese Population. Spine 2018 Sep . Man Gene Chi-Wai, Tang Nelson Leung-Sang, Chan Ting Fung, Lam Tsz Ping, Li Jing Woei, Ng Bobby Kin-Wah, Zhu Zezhang, Qiu Yong, Cheng Jack Chun-Y |
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome. Clinical genetics 2018 11 95 (3): 398-402. Somashekar Puneeth H, Girisha Katta M, Nampoothiri Sheela, Gowrishankar Kalpana, Devi Radha R, Gupta Neerja, Narayanan Dhanya L, Kaur Anupriya, Bajaj Shruti, Jagadeesh Sujatha, Lewis Leslie E S, Shailaja Shenoy, Shukla An |
Meta-analysis of genome-wide association studies and functional assays decipher susceptibility genes for gastric cancer in Chinese populations.
Gut 2019 Aug . Yan Caiwang, Zhu Meng, Ding Yanbing, Yang Ming, Wang Mengyun, Li Gang, Ren Chuanli, Huang Tongtong, Yang Wenjun, He Bangshun, Wang Meilin, Yu Fei, Wang Jinchen, Zhang Ruoxin, Wang Tianpei, Ni Jing, Chen Jiaping, Jiang Yue, Dai Juncheng, Zhang Erbao, Ma Hongxia, Wang Yanong, Xu Dazhi, Wang Shukui, Chen Yun, Xu Zekuan, Zhou Jianwei, Ji Guozhong, Wang Zhaoming, Zhang Zhengdong, Hu Zhibin, Wei Qingyi, Shen Hongbing, Jin Guang |
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing. Neural plasticity 2019 2019 7143458. Li Wu, Mei Lingyun, Chen Hongsheng, Cai Xinzhang, Liu Yalan, Men Meichao, Liu Xue Zhong, Yan Denise, Ling Jie, Feng Yo |
A clinical and genetic study of 16 Japanese families with Waardenburg syndrome. Gene 2019 4 704 86-90. Minami Shujiro B, Nara Kiyomitsu, Mutai Hideki, Morimoto Noriko, Sakamoto Hirokazu, Takiguchi Tetsuya, Kaga Kimitaka, Matsunaga Tats |
Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome. Gene 2019 3 702 99-106. Dai Wenting, Wu Jiayu, Zhao Yaguang, Jiang Fang, Zheng Ruizhi, Chen Dan-Na, Men Meichao, Li Jia- |
The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families. International journal of pediatric otorhinolaryngology 2019 12 130 109806. Liu Qin, Cheng Jing, Lu Yu, Zhou Jia, Wang Li, Yang Changliang, Yang Guang, Yang Hui, Cao Jingyuan, Zhang Zhao, Sun |
Editors' Note to: EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population. Human genetics 2019 Dec . Authors are not available |
Study of genetic correlation between children's sleep and obesity. Journal of human genetics 2020 6 65 (11): 949-959. Mei Hao, Jiang Fan, Li Lianna, Griswold Michael, Liu Shijian, Mosley Thom |
A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1. Genetic testing and molecular biomarkers 2020 4 24 (5): 249-255. Li Shuling, Guo Min, Ruan Biao, Liu Ya, Cui Xin, Han Weiwei, Li Ruom |
A Genetic Predictive Model Estimating the Risk of Developing Adolescent Idiopathic Scoliosis. Current genomics 2019 May 20 (4): 246-251. Xu Leilei, Wu Zhichong, Xia Chao, Tang Nelson, Cheng Jack C Y, Qiu Yong, Zhu ZeZha |
Genetic Analysis of Ulcerative Colitis in Japanese Individuals Using Population-specific SNP Array.
Inflammatory bowel diseases 2020 Feb . Okamoto Daisuke, Kawai Yosuke, Kakuta Yoichi, Naito Takeo, Torisu Takehiro, Hirano Atsushi, Umeno Junji, Fuyuno Yuta, Li Dalin, Nakano Takeru, Izumiyama Yasuhiro, Ichikawa Ryo, Hiramoto Keiichiro, Moroi Rintaro, Kuroha Masatake, Kanazawa Yoshitake, Shiga Hisashi, Tokunaga Katsushi, Nakamura Minoru, Esaki Motohiro, Matsumoto Takayuki, McGovern Dermot P B, Nagasaki Masao, Kinouchi Yoshitaka, Masamune Atsus |
Influence of germline genetic variants on dermoscopic features of melanoma. Pigment cell & melanoma research 2020 Dec . Pozzobon Flavia Carolina, Tell-Marti Gemma, Calbet-Llopart Neus, Barreiro Alicia, Espinosa Natalia, Potrony Míriam, Alejo Beatriz, Podlipnik Sebastian, Combalia Marc, Puig-Butillé Joan Anton, Carrera Cristina, Malvehy Josep, Puig Susa |
Retraction Note: EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population. Human genetics 2021 8 140 (10): 1499. Li Yi, Zhao Wenting, Li Dan, Tao Xianming, Xiong Ziyi, Liu Jing, Zhang Wei, Ji Anquan, Tang Kun, Liu Fan, Li Caix |
The Interaction Analysis of SNP Variants and DNA Methylation Identifies Novel Methylated Pathogenesis Genes in Congenital Heart Diseases. Frontiers in cell and developmental biology 2021 5 9 665514. Wang Jing, Ma Xiaoqin, Zhang Qi, Chen Yinghui, Wu Dan, Zhao Pengjun, Yu |
A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1. International journal of pediatric otorhinolaryngology 2021 5 147 110758. Guo Min, Li Qing, Jiang Chaowu, Li Shuling, Ruan Bi |
BAX -248 G>A and BCL2 -938 C>A Variant Lowers the Survival in Patients with Nasopharyngeal Carcinoma and Could be Associated with Tissue-Specific Malignancies: A Multi-Method Approach. Asian Pacific journal of cancer prevention : APJCP 2021 Apr 22 (4): 1171-1181. Chatterjee Koustav, De Saikat, Deb Roy Sankar, Sahu Sushil Kumar, Chakraborty Arindom, Ghatak Sandeep, Das Nilanjana, Mal Sudipa, Roy Chattopadhyay Nabanita, Das Piyanki, Reddy R Rajendra, Mukherjee Syamantak, Das Ashok Kumar, Puii Zoreng, Zomawia Eric, Singh Yengkhom Indibor, Tsering Sam, Riba Komri, Rajasubramaniam Shanmugam, Suryawanshi Amol Ratnakar, Choudhuri Tathaga |
Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences. Breast cancer research : BCR 2021 1 23 (1): 1. Priedigkeit Nolan, Ding Kai, Horne William, Kolls Jay K, Du Tian, Lucas Peter C, Blohmer Jens-Uwe, Denkert Carsten, Machleidt Anna, Ingold-Heppner Barbara, Oesterreich Steffi, Lee Adrian |
A genome-wide association study of facial morphology identifies novel genetic loci in Han Chinese.
Journal of genetics and genomics = Yi chuan xue bao 2021 2 48 (3): 198-207. Huang Yin, Li Dan, Qiao Lu, Liu Yu, Peng Qianqian, Wu Sijie, Zhang Manfei, Yang Yajun, Tan Jingze, Xu Shuhua, Jin Li, Wang Sijia, Tang Kun, Grünewald Stef |
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome. Human genetics 2022 12 142 (3): 419-430. Li Xiaohong, Huang Shasha, Wang Guojian, Kang Dongyang, Han Mingyu, Wu Xiedong, Yang Jinyuan, Zheng Qiuchen, Zhao Chaoyue, Yuan Yongyi, Dai |
Molecular etiology study of hearing loss in 13 Chinese Han families. Frontiers in neurology 2022 12 13 1048218. Sun Lianhua, Lin Zhengyu, Wang Xiaowen, Shen Jiali, Li Yue, Huang Yuyu, Yang J |
Molecular Characterization of Circulating Tumor DNA in Pediatric Rhabdomyosarcoma: A Feasibility Study. JCO precision oncology 2022 10 6 e2100534. Ruhen Olivia, Lak Nathalie S M, Stutterheim Janine, Danielli Sara G, Chicard Mathieu, Iddir Yasmine, Saint-Charles Alexandra, Di Paolo Virginia, Tombolan Lucia, Gatz Susanne A, Aladowicz Ewa, Proszek Paula, Jamal Sabri, Stankunaite Reda, Hughes Deborah, Carter Paul, Izquierdo Elisa, Wasti Ajla, Chisholm Julia C, George Sally L, Pace Erika, Chesler Louis, Aerts Isabelle, Pierron Gaelle, Zaidi Sakina, Delattre Olivier, Surdez Didier, Kelsey Anna, Hubank Michael, Bonvini Paolo, Bisogno Gianni, Di Giannatale Angela, Schleiermacher Gudrun, Schäfer Beat W, Tytgat Godelieve A M, Shipley Jan |
Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2023 5 . Chen-Yu Lee, Pei-Hsuan Lin, Yu-Ting Chiang, Cheng-Yu Tsai, Shu-Yu Yang, You-Mei Chen, Chao-Hsuan Li, Chun-Yi Lu, Tien-Chen Liu, Chuan-Jen Hsu, Pei-Lung Chen, Jacob Shujui Hsu, Chen-Chi |
Preimplantation genetic testing for hereditary hearing loss in Chinese population. Journal of assisted reproduction and genetics 2023 4 . Bi Qingling, Huang Shasha, Wang Hui, Gao Xue, Ma Minyue, Han Mingyu, Lu Sijia, Kang Dongyang, Nourbakhsh Aida, Yan Denise, Blanton Susan, Liu Xuezhong, Yuan Yongyi, Yao Yuanqing, Dai |
Germline Genetic Variants and Pediatric Rhabdomyosarcoma Outcomes: A Report from the Children's Oncology Group. Journal of the National Cancer Institute 2023 3 . Martin-Giacalone Bailey A, Richard Melissa A, Scheurer Michael E, Khan Javed, Sok Pagna, Shetty Priya B, Chanock Stephen J, Li Shengchao Alfred, Yeager Meredith, Marquez-Do Deborah A, Barkauskas Donald A, Hall David, McEvoy Matthew T, Brown Austin L, Sabo Aniko, Scheet Paul, Huff Chad D, Skapek Stephen X, Hawkins Douglas S, Venkatramani Rajkumar, Mirabello Lisa, Lupo Philip |
DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved. International journal of molecular sciences 2023 12 24 (24): . Natalya Risinskaya, Maria Gladysheva, Abdulpatakh Abdulpatakhov, Yulia Chabaeva, Valeriya Surimova, Olga Aleshina, Anna Yushkova, Olga Dubova, Nikolay Kapranov, Irina Galtseva, Sergey Kulikov, Tatiana Obukhova, Andrey Sudarikov, Elena Parovichniko |
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