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

P Tang, J Li, J Li, J Yang, J Zhu - Medicine, 2022 - journals.lww.com
Background: Branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder
characterized by branchial arch anomalies, hearing loss, and kidney defects. Mutations in …
被引用次数：2 相关文章 所有 8 个版本
[HTML] springer.comFull View

[HTML][HTML] A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome

Y Wang, S Sun, Y Qiu, Q Xing, W Lu - BMC medical genetics, 2018 - Springer
Background Branchio-oto-renal (BOR) syndrome is a dominant autosomal disorder
characterized by phenotypes such as hearing loss, branchial fistulae, preauricular pits, and …
被引用次数：27 相关文章 所有 11 个版本

Prenatal diagnosis of a case with Branchi-oto-renal syndrome

X Mi, S Yang, X Shen - Zhonghua yi xue yi Chuan xue za zhi …, 2019 - europepmc.org
Objective To carry out prenatal diagnosis for a women with Branchio-oto-renal syndrome by
using chromosomal microarray analysis (CMA). Methods Peripheral blood chromosomal …
被引用次数：3 相关文章 所有 4 个版本
[HTML] nih.gov

Novel EYA1 variants causing Branchio-oto-renal syndrome

KD Klingbeil, CM Greenland, S Arslan… - International journal of …, 2017 - Elsevier
Introduction Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder
characterized by second branchial arch anomalies, hearing impairment, and renal …
被引用次数：27 相关文章 所有 11 个版本
[PDF] jst.go.jp

A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome

G Li, Q Shen, L Sun, H Liu, Y An, H Xu - Intractable & rare diseases …, 2018 - jstage.jst.go.jp
Summary Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder
characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations …
被引用次数：16 相关文章 所有 7 个版本

Novel duplication mutation of EYA1 causes branchio-oto-renal syndrome in a Chinese family

J Li, P Zhao, Z Xia, W Yao, Y Wei, L Hao… - … er bi yan hou tou Jing …, 2021 - europepmc.org
Objective: To identify novel genetic causes of branchio-oto-renal (BOR) syndrome in a
Chinese family. Methods: Clinical characteristics and treatment of a family with a BOR …
被引用次数：1 相关文章 所有 4 个版本
[HTML] springer.comFull View

[HTML][HTML] Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms

H Zhang, J Gao, H Wang, M Liu, S Lu, H Xu… - BMC Medical …, 2024 - Springer
Objective Branchio-oto-renal syndrome (BOR, OMIM# 113,650) is a rare autosomal
dominant disorder that presents with a variety of symptoms, including hearing loss …
相关文章 所有 8 个版本
[PDF] academia.edu

Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family

KY Lee, SH Kim, UK Kim, CS Ki, SH Lee - International journal of pediatric …, 2007 - Elsevier
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder that is characterized
by branchial cysts or fistulae, external ear malformations and/or preauricular pits, hearing …
被引用次数：19 相关文章 所有 8 个版本

Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1

T Matsunaga, M Okada, SI Usami… - Acta oto …, 2007 - Taylor & Francis
Branchio-oto-renal (BOR) syndrome is an autosomal dominant inherited disorder
characterized by malformations of the ear associated with hearing impairment, branchial …
被引用次数：26 相关文章 所有 7 个版本

EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions

M Okada, R Fujimaru, N Morimoto, K Satomura… - Pediatric …, 2006 - Springer
We isolated genomic DNA from 15 patients with branchio-oto-renal (BOR) syndrome or BOR-
related conditions. Seven patients had BOR syndrome (two familial and five sporadic), and …
被引用次数：31 相关文章 所有 10 个版本