Associated Papers
Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea.
Lee S et al.
Scientific Reports, 2023
37479820 (PubMed )
Supplement: 41598_2023_38909_MOESM1_ESM.pdf
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Calpena E et al.
Journal of Medical Genetics, 2022
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
Chen A et al.
Clinical Genetics, 2021
Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome.
Feng H et al.
Frontiers in Genetics, 2021
Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development.
Shah AM et al.
Disease Models & Mechanisms, 2020
A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss.
Kari E et al.
Molecular Genetics & Genomic Medicine, 2019
Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome.
Patrick AN et al.
Nature Structural & Molecular Biology, 2013
Audiovestibular findings in a branchio-oto syndrome patient with a SIX1 mutation.
Noguchi Y et al.
Acta Oto-laryngologica, 2011
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.
Patrick AN et al.
The Journal of Biological Chemistry, 2009
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
Kochhar A et al.
Human Mutation, 2008
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