Associated Papers
From renal biopsy to genetic diagnosis: EYA1 mutation in branchio-oto-renal syndrome with renal insufficiency.
Yang M et al.
Bmc Nephrology, 2025
A Novel EYA1 Splicing Mutation in a Chinese Family With Branchio-Oto Syndrome: A Functional Analysis and Reproductive Intervention.
Chen A et al.
Clinical and Experimental Otorhinolaryngology, 2025
Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.
Graziani L et al.
Genes, 2025
CRISPR-based editing strategies to rectify EYA1 complex genomic rearrangement linked to haploinsufficiency.
Yi H et al.
Molecular Therapy. Nucleic Acids, 2024
38766525 (PubMed )
Supplement: mmc2.xlsx › Sheet1
A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application.
Chen A et al.
Clinical and Experimental Otorhinolaryngology, 2023
Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases.
Lin Z et al.
Bmc Nephrology, 2023
[Branchio-oto-renal syndrome or branchio-oto syndrome: the clinical and genetic analysis in five Chinese families].
Feng HF et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2022
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
Chen A et al.
Clinical Genetics, 2021
EYA1-related disorders: two clinical cases and a literature review.
Castiglione A et al.
International Journal of Pediatric Otorhinolaryngology, 2014
Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.
Gigante M et al.
Bmc Nephrology, 2013
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