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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 9 (of 9 Records)

Query Trace: Syndrome and EYA1[original query]
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
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
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
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
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
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
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
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