Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Disease and EYA1[original query] |
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| Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies. BMC medical genetics 2008 9 49. Kottgen A, Kao WH, Hwang SJ, Boerwinkle E, Yang Q, Levy D, Benjamin EJ, Larson MG, Astor BC, Coresh J, Fox CS |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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 |
| 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 |
| 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 |
| 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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