Condition: Branchiootorenal Syndrome 1
rs1131691667 in
EYA1 gene and
Branchiootorenal Syndrome 1
PMID 18220287 2008 Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
PMID 10991693 2000 Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.
PMID 21280147 2011 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 mutations.
PMID 10464653 1999 Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.
PMID 15146463 2004 Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.
PMID 24489909 2014 BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein.
PMID 9361030 1997 Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.
PMID 28832562 2017 A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.
PMID 11558900 2001 Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.
PMID 10655545 2000 Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.
PMID 19951260 2010 EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis.
PMID 18177466 2008 Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
PMID 26969326 2016 Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
PMID 16691597 2006 Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.
PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
rs397517920 in
LOC105375894;EYA1 gene and
Branchiootorenal Syndrome 1
PMID 10464653 1999 Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.
PMID 11558900 2001 Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.
PMID 10991693 2000 Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.
PMID 10655545 2000 Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.
PMID 21280147 2011 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 mutations.
PMID 9361030 1997 Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.