Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 31 Records) |
Query Trace: EYA1[original query] |
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Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients. PloS one 2012 7 (4): e31327. van Eerde Albertien M, Duran Karen, van Riel Els, de Kovel Carolien G F, Koeleman Bobby P C, Knoers Nine V A M, Renkema Kirsten Y, van der Horst Henricus J R, Bökenkamp Arend, van Hagen Johanna M, van den Berg Leonard H, Wolffenbuttel Katja P, van den Hoek Joop, Feitz Wouter F, de Jong Tom P V M, Giltay Jacques C, Wijmenga Cis |
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. Human genetics 2013 Dec 132 (12): 1339-50. Brophy Patrick D, Alasti Fatemeh, Darbro Benjamin W, Clarke Jason, Nishimura Carla, Cobb Bryan, Smith Richard J, Manak J Robe |
Associations between EYA1 single-nucleotide polymorphisms and non-syndromic orofacial clefts in Western Han Chinese. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 2013 Oct 42 (9): 711-5. Zeng Ni, Wu Jun, Zhu Wen-Chao, Ma Li, Jia Zhong-Lin, Shi Bi |
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
Nature genetics 2014 Sep 46 (9): 957-63. Geller Frank, Feenstra Bjarke, Carstensen Lisbeth, Pers Tune H, van Rooij Iris A L M, Körberg Izabella Baranowska, Choudhry Shweta, Karjalainen Juha M, Schnack Tine H, Hollegaard Mads V, Feitz Wout F J, Roeleveld Nel, Hougaard David M, Hirschhorn Joel N, Franke Lude, Baskin Laurence S, Nordenskjöld Agneta, van der Zanden Loes F M, Melbye Ma |
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. International journal of molecular medicine 2015 Oct 36 (4): 1111-7. Huang Xiaobo, Xiao Xueshan, Jia Xiaoyun, Li Shiqiang, Li Miaoling, Guo Xiangming, Liu Xing, Zhang Qingjio |
Evaluation of the association of polymorphisms in EYA1, environmental factors, and non-syndromic orofacial clefts in Western Han Chinese. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 2015 Jan . Zeng Ni, Wu Jun, Zhu Wen-Chao, Shi Bing, Jia Zhong-L |
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep . Bekheirnia Mir Reza, Bekheirnia Nasim, Bainbridge Matthew N, Gu Shen, Coban Akdemir Zeynep Hande, Gambin Tomek, Janzen Nicolette K, Jhangiani Shalini N, Muzny Donna M, Michael Mini, Brewer Eileen D, Elenberg Ewa, Kale Arundhati S, Riley Alyssa A, Swartz Sarah J, Scott Daryl A, Yang Yaping, Srivaths Poyyapakkam R, Wenderfer Scott E, Bodurtha Joann, Applegate Carolyn D, Velinov Milen, Myers Angela, Borovik Lior, Craigen William J, Hanchard Neil A, Rosenfeld Jill A, Lewis Richard Alan, Gonzales Edmond T, Gibbs Richard A, Belmont John W, Roth David R, Eng Christine, Braun Michael C, Lupski James R, Lamb Dolores |
Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis. American journal of nephrology 2017 Jun 46 (1): 55-63. Wu Hangdi, Xu Qian, Xie Jingyuan, Ma Jun, Qiao Panpan, Zhang Wen, Yu Haijin, Wang Weiming, Qian Ying, Zhang Qianying, Guo Yiqing, Tang Yonghua, Chen Xiao-Nong, Wang Zhaohui, Chen N |
Genetic mutation of familial dilated cardiomyopathy based on next?generation semiconductor sequencing. Molecular medicine reports 2018 9 18 (5): 4271-4280. Lin Xin-Fu, Luo Jie-Wei, Liu Gui, Zhu Yao-Bin, Jin Zhao, Lin Xi |
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing. Prenatal diagnosis 2018 Jul . Kammoun Molka, Souche Erika, Brady Paul, Ding Jia, Cosemans Nele, Gratacos Eduard, Devriendt Koen, Eixarch Elisenda, Deprest Jan, Vermeesch Joris Robe |
Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct. The Journal of molecular diagnostics : JMD 2018 10 21 (1): 138-148. Lin Yin-Hung, Wu Chen-Chi, Lin Yi-Hsin, Lu Ying-Chang, Chen Chih-Shan, Liu Tien-Chen, Chen Pei-Lung, Hsu Chuan-J |
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome. Molecular genetics & genomic medicine 2019 8 7 (9): e883. Yamamura Tomohiko, Nozu Kandai, Minamikawa Shogo, Horinouchi Tomoko, Sakakibara Nana, Nagano China, Aoto Yuya, Ishiko Shinya, Nakanishi Koichi, Shima Yuko, Nagase Hiroaki, Rossanti Rini, Ye Ming J, Nozu Yoshimi, Ishimori Shingo, Morisada Naoya, Kaito Hiroshi, Iijima Kazumo |
Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population. Scientific reports 2019 Feb 9 (1): 1604. Han Jae Joon, Nguyen Pham Dinh, Oh Doo-Yi, Han Jin Hee, Kim Ah-Reum, Kim Min Young, Park Hye-Rim, Tran Lam Huyen, Dung Nguyen Huu, Koo Ja-Won, Lee Jun Ho, Oh Seung Ha, Anh Vu Hoang, Choi Byung Yo |
Targeted next-generation sequencing identifies a novel frameshift EYA1 variant causing branchio-otic syndrome in a Chinese family. International journal of pediatric otorhinolaryngology 2020 7 138 110202. Xing Zhan-Kui, Wang Su-Yang, Xia Xin, Ding Wen-Juan, Duan Lei, Cui Xiao, Xu Bai-Cheng, Zhu Yi-Ming, Liu Xiao-W |
Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract. Journal of clinical medicine 2020 3 9 (3): . Ahn Yo Han, Lee Chung, Kim Nayoung K D, Park Eujin, Kang Hee Gyung, Ha Il-Soo, Park Woong-Yang, Cheong Hae |
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations. Orphanet journal of rare diseases 2020 Jan 15 (1): 29. Yu Xiaoyu, Lin Yun, Xu Jun, Che Tuanjie, Li Lin, Yang Tao, Wu H |
Genome-Wide association between EYA1 and Aspirin-induced peptic ulceration.
EBioMedicine 2021 12 74 103728. Bourgeois Stephane, Carr Daniel F, Musumba Crispin O, Penrose Alexander, Esume Celestine, Morris Andrew P, Jorgensen Andrea L, Zhang J Eunice, Pritchard D Mark, Deloukas Panos, Pirmohamed Mun |
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 |
The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns. AJNR. American journal of neuroradiology 2022 9 43 (11): 1646-1652. Juliano A F, D'Arco F, Pao J, Picariello S, Clement E, Moonis G, Robson C |
[Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 4 39 (4): 374-377. Han Rui, Liu Xiaoran, Ye Erdengqieqieke, Wu Shuang, Zhao Jing, Duan Ling, Xia Yan, Ding Jianbi |
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes. Orphanet journal of rare diseases 2022 3 17 (1): 114. Mutai Hideki, Momozawa Yukihide, Kamatani Yoichiro, Nakano Atsuko, Sakamoto Hirokazu, Takiguchi Tetsuya, Nara Kiyomitsu, Kubo Michiaki, Matsunaga Tats |
Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing. Gene 2022 2 819 146258. Liu Ya, Tan Meihua, Cai Luhang, Lv Lihui, Chen Qingqing, Chen Wei, Yang Hang, Xu Yapi |
The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes. Life (Basel, Switzerland) 2022 11 12 (11): . Estandia-Ortega Bernardette, Reyna-Fabián Miriam Erandi, Velázquez-Aragón José Antonio, González-Del Angel Ariadna, Fernández-Hernández Liliana, Alcántara-Ortigoza Miguel Ang |
Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology. EBioMedicine 2022 10 85 104290. Clark Lorraine N, Gao Yizhe, Wang Gao T, Hernandez Nora, Ashley-Koch Allison, Jankovic Joseph, Ottman Ruth, Leal Suzanne M, Rodriguez Sandra M Barral, Louis Elan |
The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia. Journal of applied genetics 2022 1 63 (2): 327-337. Lin Ken, You Ding-Yun, Zhang Li-Huan, Zhou Li-Juan, Zu Jin-Yan, Xiao Yang, Sun Mei-Hua, Dong-Su , Cao Xue, Zhang Tie-Song, Ma Ji |
Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation. AJNR. American journal of neuroradiology 2022 Feb 43 (2): 309-314. Pao J, D'Arco F, Clement E, Picariello S, Moonis G, Robson C D, Juliano A |
The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation. Genes 2023 2 14 (2): . Ba?dyga Natalia, Ozi?b?o Dominika, Gan Nina, Furmanek Mariusz, Leja Marcin L, Skar?y?ski Henryk, O?dak Moni |
Integrated Genomic Analysis of Primary Prostate Tumor Foci and Corresponding Lymph Node Metastases Identifies Mutations and Pathways Associated with Metastasis. Cancers 2023 12 15 (23): . Carlos S Moreno, Cynthia L Winham, Mehrdad Alemozaffar, Emma R Klein, Ismaheel O Lawal, Olayinka A Abiodun-Ojo, Dattatraya Patil, Benjamin G Barwick, Yijian Huang, David M Schuster, Martin G Sanda, Adeboye O Osunko |
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure. Kidney international reports 2023 10 8 (10): 2126-2135. Yishay Ben-Moshe, Omer Shlomovitz, Danit Atias-Varon, Orly Haskin, Efrat Ben-Shalom, Hadas Shasha Lavsky, Oded Volovelsky, Shrikant Mane, Dror Ben-Ruby, Guy Chowers, Karl Skorecki, Yael Borovitz, Maayan Kagan, Nofar Mor, Yulia Khavkin, Shimrit Tzvi-Behr, Shirley Pollack, Moran Plonsky Toder, Michael Geylis, Aviad Schnapp, Rachel Becker-Cohen, Irith Weissman, Ruth Schreiber, Miriam Davidovits, Yaacov Frishberg, Daniella Magen, Ortal Barel, Asaf Vivan |
Association of Novel Loci With Keratoconus Susceptibility in a Chinese Genome-Wide Association Study. Investigative ophthalmology & visual science 2024 5 65 (5): 29. Liyan Xu, Xiaodong Zheng, Shanshan Yin, Kaili Yang, Qi Fan, Yuwei Gu, Yi Yuan, Chenchen Yin, Yonghao Zang, Chenjiu Pang, Liangdan Sun, Shengwei R |
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- Page last updated:May 28, 2024
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