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Article

Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

18 Jul 2007

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 17637804
DOI: 10.1038/sj.ejhg.5201900

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Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analysesPMID 17637804Read ↗

Novel EYA1 variants causing Branchio-oto-renal syndrome.Semantic proximity Read ↗

Genomic Landscape of Branchio-Oto-Renal Syndrome through Whole-Genome Sequencing: A Single Rare Disease Center Experience in South Korea.Semantic proximity Read ↗

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.Semantic proximity Read ↗

Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome.Semantic proximity Read ↗

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.Semantic proximity Read ↗

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1Semantic proximity Read ↗

Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto SyndromeSemantic proximity Read ↗

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutationsSemantic proximity Read ↗

Branchio-oto-renal syndrome.Semantic proximity Read ↗

Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.Semantic proximity Read ↗

A child with branchio-oto-renal spectrum disorder carrying an SIX1 variant.Semantic proximity Read ↗

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.Semantic proximity Read ↗

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