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Select item 34335091.

Branchio-oto-renal syndrome with obstructive sleep apnoea

Arjun Chavan, Aravind R T Shastri, Robert I Ross-Russell

BMJ Case Rep. 2012; 2012: bcr0320091719. Published online 2012 Jul 27. doi: 10.1136/bcr.03.2009.1719

PMCID:: PMC3433509

Abstract Article PDF–796K

Select item 27428422.

Biochemical and Functional Characterization of Six SIX1 Branchio-oto-renal Syndrome Mutations

Aaron N. Patrick, Barbara J. Schiemann, Kui Yang, Rui Zhao, Heide L. Ford

J Biol Chem. 2009 Jul 31; 284(31): 20781–20790. Published online 2009 Jun 4. doi: 10.1074/jbc.M109.016832

PMCID:: PMC2742842

Abstract Article PDF–3.7M

Select item 42969513.

Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review

Tâmara Andrade Lindau, Ana Cláudia Vieira Cardoso, Natalia Freitas Rossi, Célia Maria Giacheti

Int Arch Otorhinolaryngol. 2014 Jan; 18(1): 68–76. Published online 2013 Nov 5. doi: 10.1055/s-0033-1358659

PMCID:: PMC4296951

Abstract Article PDF–255K

Select item 101278984.

鳃-耳-肾综合征家系EYA1基因一个新的外显子重复变异

李隽, 赵培伟, 夏志杰, 姚薇, 魏幼华, 郝丽丽, 夏忠芳, 何学莲

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Jul 5; 35(7): 607–612. Chinese. doi: 10.13201/j.issn.2096-7993.2021.07.007

PMCID:: PMC10127898

Abstract Article PDF–5.8M

Select item 41527675.

Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks

Xiaoli Chen, Jun Wang, Elyse Mitchell, Jin Guo, Liwen Wang, Yu Zhang, Jennelle C Hodge, Yiping Shen

BMC Med Genet. 2014; 15: 90. Published online 2014 Aug 19. doi: 10.1186/s12881-014-0090-9

PMCID:: PMC4152767

Abstract Article PDF–1.5M

Select item 97312536.

The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns

A.F. Juliano, F. D’Arco, J. Pao, S. Picariello, E. Clement, G. Moonis, C.D. Robson

AJNR Am J Neuroradiol. 2022 Nov; 43(11): 1646–1652. doi: 10.3174/ajnr.A7653

PMCID:: PMC9731253

Abstract Article PDF–2.0M

Select item 96226247.

Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report

Ping Tang, Jiarui Li, Jun Li, Juan Yang, Jianjun Zhu

Medicine (Baltimore) 2022 Oct 28; 101(43): e31172. Published online 2022 Oct 28. doi: 10.1097/MD.0000000000031172

PMCID:: PMC9622624

Abstract Article PDF–615K

Select item 95269778.

From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome – case report

Elena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, Chiara Rigon, Paola Giovanna Marchisio, Matteo Cassina, Donatella Milani

Ital J Pediatr. 2022; 48: 177. Published online 2022 Oct 1. doi: 10.1186/s13052-022-01369-5

PMCID:: PMC9526977

Abstract Article PDF–1014K

Select item 53433379.

Case Report of a Novel Mutation of the EYA1 Gene in a Patient with Branchio-oto-renal Syndrome

L Spahiu, B Merovci, V Ismaili Jaha, A Batalli Këpuska, H Jashari

Balkan J Med Genet. 2016 Dec 1; 19(2): 91–94. Published online 2016 Dec 31. doi: 10.1515/bjmg-2016-0042

PMCID:: PMC5343337

Abstract Article PDF–1.1M

Select item 898566610.

Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation

J. Pao, F. D’Arco, E. Clement, S. Picariello, G. Moonis, C.D. Robson, A.F. Juliano

AJNR Am J Neuroradiol. 2022 Feb; 43(2): 309–314. doi: 10.3174/ajnr.A7396

PMCID:: PMC8985666

Abstract Article PDF–1.0M

Select item 551656911.

Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome

Kyle D. Klingbeil, Christopher M. Greenland, Selcuk Arslan, Arianne Llamos Paneque, Hakan Gurkan, Selma Demir Ulusal, Reza Maroofian, Andrea Carrera-Gonzalez, Stefany Montufar-Armendariz, Rosario Paredes, Nursel Elcioglu, Ibis Menendez, Mahdiyeh Behnam, Joseph Foster, II, Shengru Guo, Sebastian Escarfuller, Filiz Basak Cengiz, Duygu Duman, Guney Bademci, Mustafa Tekin

Int J Pediatr Otorhinolaryngol. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Int J Pediatr Otorhinolaryngol. 2017 Jul; 98: 59–63. Published online 2017 Apr 26. doi: 10.1016/j.ijporl.2017.04.037

PMCID:: PMC5516569

Abstract Article PDF–222K

Select item 877079612.

Phenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome

Masatsugu Masuda, Ayako Kanno, Kiyomitsu Nara, Hideki Mutai, Naoya Morisada, Kazumoto Iijima, Noriko Morimoto, Atsuko Nakano, Tomoko Sugiuchi, Yasuhide Okamoto, Sawako Masuda, Sayaka Katsunuma, Kaoru Ogawa, Tatsuo Matsunaga

Sci Rep. 2022; 12: 969. Published online 2022 Jan 19. doi: 10.1038/s41598-022-04885-w

PMCID:: PMC8770796

Abstract Article PDF–1.5M

Select item 829304213.

Mutations in SIX1 Associated with Branchio-oto-Renal Syndrome (BOR) Differentially Affect Otic Expression of Putative Target Genes

Tanya Mehdizadeh, Himani D. Majumdar, Sarah Ahsan, Andre L. P. Tavares, Sally A. Moody

J Dev Biol. 2021 Sep; 9(3): 25. Published online 2021 Jun 30. doi: 10.3390/jdb9030025

PMCID:: PMC8293042

Abstract Article PDF–1.9M

Select item 933424614.

A Perihilar Variant of Focal Segmental Glomerulosclerosis Due to De novo Branchio-oto-renal Syndrome

Ryosuke Saiki, Kan Katayama, Masako Kitano, Kayo Tsujimoto, Fumika Tanaka, Yasuo Suzuki, Tomohiro Murata, Tairo Kurita, Ryuji Okamoto, Kazuhiko Takeuchi, Kaoru Dohi

Intern Med. 2022 Jul 1; 61(13): 2033–2038. Published online 2021 Dec 4. doi: 10.2169/internalmedicine.8508-21

PMCID:: PMC9334246

Abstract Article PDF–1.2M

Select item 345155615.

Non-inherited manifestation of bilateral branchial fistulae, bilateral pre-auricular sinuses and bilateral hearing loss: A variant of branchio-oto-renal syndrome

Indu Rana, Rajiv Dhawan, Sanjay Gudwani, Rajendra Bothra, N. N. Mathur

Indian J Otolaryngol Head Neck Surg. 2005 Jan; 57(1): 52–54. doi: 10.1007/BF02907630

PMCID:: PMC3451556

Summary PDF–74K

Select item 345211716.

Cochlear implantation in branchio-oto-renal syndrome — A surgical challenge

Mohan Kameswaran, R. S. Anand Kumar, Sathiya Murali, S. Raghunandhan, K. Karthikeyan

Indian J Otolaryngol Head Neck Surg. 2007 Sep; 59(3): 280–283. Published online 2007 Oct 5. doi: 10.1007/s12070-007-0081-7

PMCID:: PMC3452117

Summary PDF–134K

Select item 765538617.

The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome

A. Hsu, N. Desai, M.J. Paldino

AJNR Am J Neuroradiol. 2018 Dec; 39(12): 2345–2349. doi: 10.3174/ajnr.A5856

PMCID:: PMC7655386

Abstract Article PDF–437K

Select item 737573518.

Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review

Hong-Xia Li, Peng Zhou, Min Tong, Yan Zheng

J Int Med Res. 2020 Jul; 48(7): 0300060520926363. Published online 2020 Jul 21. doi: 10.1177/0300060520926363

PMCID:: PMC7375735

Abstract Article PDF–616K

Select item 360588219.

HERV-Mediated Genomic Rearrangement of EYA1 in an Individual With Branchio-oto-renal Syndrome

Amarilis Sanchez-Valle, Xueqing Wang, Lorraine Potocki, Zhilian Xia, Sung-Hae L. Kang, Mary E. Carlin, Donnice Michel, Patricia Williams, Gerardo Cabrera-Meza, Ellen K. Brundage, Anna L. Eifert, Pawel Stankiewicz, Sau Wai Cheung, Seema R. Lalani

Am J Med Genet A. Author manuscript; available in PMC 2013 Mar 22.

Published in final edited form as: Am J Med Genet A. 2010 Nov; 152A(11): 2854–2860. doi: 10.1002/ajmg.a.33686

PMCID:: PMC3605882

Abstract Article PDF–751K

Select item 361016120.

Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation

Maddalena Gigante, Marilena d’Altilia, Eustacchio Montemurno, Sterpeta Diella, Francesca Bruno, Giuseppe S Netti, Elena Ranieri, Giovanni Stallone, Barbara Infante, Giuseppe Grandaliano, Loreto Gesualdo

BMC Nephrol. 2013; 14: 60. Published online 2013 Mar 18. doi: 10.1186/1471-2369-14-60

PMCID:: PMC3610161

Abstract Article PDF–1.1M

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