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Original Paper

Mutation of the EYA1 Gene in Patients with Branchio-oto Syndrome

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Pages 279-282 | Published online: 08 Jul 2009

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Read on this site (2)

Min-Jung Kwon, Sung Hyun Boo, Min-Jung Kwon, Sung Hyun Boo, Hee-Jin Kim, Yang-Sun Cho, Won-Ho Chung & Sung Hwa Hong. (2009) A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome. Acta Oto-Laryngologica 129:6, pages 688-693.
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Tatsuo Matsunaga, Michiyo Okada, Shin-Ichi Usami & Torayuki Okuyama. (2007) Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1. Acta Oto-Laryngologica 127:1, pages 98-104.
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Articles from other publishers (13)

Kirsty Biggs, Gemma Crundwell, Christopher Metcalfe, Jameel Muzaffar, Peter Monksfield & Manohar Bance. (2022) Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review. Laryngoscope Investigative Otolaryngology 7:2, pages 540-563.
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Haifeng Feng, Hongen Xu, Bei Chen, Shuping Sun, Rongqun Zhai, Beiping Zeng, Wenxue Tang & Wei Lu. (2021) Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome. Frontiers in Genetics 12.
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Anhai Chen, Jian Song, Frederic R. E. Acke, Lingyun Mei, Xinzhang Cai, Yong Feng & Chufeng He. (2021) Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta‐analysis. Clinical Genetics 100:1, pages 3-13.
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Yan-gong Wang, Shu-ping Sun, Yi-ling Qiu, Qing-he Xing & Wei Lu. (2018) A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome. BMC Medical Genetics 19:1.
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Guomin Li, Qian Shen, Li Sun, Haimei Liu, Yu An & Hong Xu. (2018) A <i>de novo</i> and novel mutation in the <i>EYA1</i> gene in a Chinese child with branchio-oto-renal syndrome. Intractable & Rare Diseases Research 7:1, pages 42-45.
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Hui Ram Kim, Mee Hyun Song, Min-A Kim, Ye-Ri Kim, Kyu-Yup Lee, Jong Kyung Sonn, Jaetae Lee, Jae Young Choi & Un-Kyung Kim. (2014) Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome. Molecular Biology Reports 41:7, pages 4321-4327.
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Shih‐Hao Wang, Chen‐Chi Wu, Ying‐Chang Lu, Yin‐Hung Lin, Yi‐Ning Su, Wuh‐Liang Hwu, I‐Shing Yu & Chuan‐Jen Hsu. (2012) Mutation screening of the EYA1, SIX1 , and SIX5 genes in an east asian cohort with branchio‐oto‐renal syndrome . The Laryngoscope 122:5, pages 1130-1136.
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Abdullah Ayçiçek, Hayrettin Sağlam, Cevdet Uğur Koçoğullari, Nurten Turhan Haktanir, Fevzi Sefa Dereköy & Mustafa Solak. (2010) Mitral valve prolapse as a new finding in branchio-oto-renal syndrome. Clinical Dysmorphology 19:4, pages 181-184.
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Nine V.A.M. Knoers & Cor W.J.R. Cremers. 2009. Genetic Diseases of the Kidney. Genetic Diseases of the Kidney 643 649 .
Kyu Yup Lee, SungHee Kim, Un Kyung Kim, Chang-Seok Ki & Sang Heun Lee. (2007) Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family. International Journal of Pediatric Otorhinolaryngology 71:1, pages 169-174.
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Taku Ito, Yoshihiro Noguchi, Takatoshi Yashima & Ken Kitamura. (2006) SIX1 Mutation Associated With Enlargement of the Vestibular Aqueduct in a Patient With Branchio-Oto Syndrome. The Laryngoscope 116:5, pages 796-799.
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Sung Hee Kim, Jong-Hun Shin, Chang-Ki Yeo, Soon Hee Chang, Su-Yon Park, Eun Hae Cho, Chang-Seok Ki & Jong-Won Kim. (2005) Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome. International Journal of Pediatric Otorhinolaryngology 69:8, pages 1123-1128.
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Mousumi Mutsuddi, Benjamin Chaffee, Justin Cassidy, Serena J Silver, Tina L Tootle & Ilaria Rebay. (2005) Using Drosophila to Decipher How Mutations Associated With Human Branchio-Oto-Renal Syndrome and Optical Defects Compromise the Protein Tyrosine Phosphatase and Transcriptional Functions of Eyes Absent. Genetics 170:2, pages 687-695.
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