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The American Journal of Human Genetics, ISSN 0002-9297, 05/2008, Volume 82, Issue 5, pp. 1171 - 1177
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2004, Volume 101, Issue 21, pp. 8090 - 8095
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 4, pp. 800 - 804
Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder characterized by the association of branchial arch defects, hearing loss, and... 
HEARING-LOSS | TRANSLOCATION | BOR SYNDROME | DEFECTS | EYA1 | GENETICS & HEREDITY | GENE LOCUS | EYES ABSENT | DROSOPHILA | FAMILY | REGION | Branchio-Oto-Renal syndrome | Genetic aspects | Research | Genetic transcription | Gene mutations
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2013, Volume 8, Issue 6, p. e67236
Background: Branchio-oto-renal (BOR) or branchio-otic (BO) syndrome is one of the most common forms of autosomal dominant syndromic hearing loss. Mutations in... 
KOREAN FAMILY | MECHANISM | MULTIDISCIPLINARY SCIENCES | EAR | PHENOTYPIC CONSEQUENCES | BRANCHIOOTORENAL SYNDROME | VESTIBULAR AQUEDUCT | CHILDREN | Sequence Deletion | Alternative Splicing | Humans | Temporal Bone - abnormalities | Molecular Sequence Data | Infant | Protein Tyrosine Phosphatases - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | RNA, Messenger - metabolism | Young Adult | Protein Tyrosine Phosphatases - genetics | DNA Mutational Analysis | Base Sequence | Branchio-Oto-Renal Syndrome - genetics | Branchio-Oto-Renal Syndrome - physiopathology | Hearing Loss - therapy | Adult | Female | Nuclear Proteins - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Branchio-Oto-Renal Syndrome - diagnostic imaging | Genetic Predisposition to Disease | Temporal Bone - diagnostic imaging | Genetic Association Studies | Hearing Loss - physiopathology | RNA, Messenger - genetics | Nuclear Proteins - metabolism | Homeodomain Proteins - genetics | Polymorphism, Genetic | Hearing Loss - genetics | Radiography | Point Mutation | Adolescent | Hearing Loss - diagnostic imaging | Disease Management | HeLa Cells | Ear, Middle - surgery | Branchio-Oto-Renal Syndrome - therapy | Medical research | Medical colleges | Care and treatment | Genes | Medicine, Experimental | Genetic aspects | Hearing loss | Otolaryngology | Biology | Gene deletion | Clonal deletion | Genetic analysis | Tomography | Deletion | Middle ear | Eya1 gene | Cochlear implants | Deafness | Medical imaging | Kidneys | Implantation | Hearing impairment | Patients | Medicine | Ear | Cochlea | Hearing aids | Mutation | Rehabilitation | Auditory defects | Branchio-oto-renal syndrome | Kidney transplantation
Journal Article
Cellular and Molecular Life Sciences, ISSN 1420-682X, 6/2013, Volume 70, Issue 11, pp. 1897 - 1913
The Eyes Absent (EYA) proteins, first described in the context of fly eye development, are now implicated in processes as disparate as organ development,... 
Life Sciences | Biochemistry, general | Organ development | Angiogenesis | Life Sciences, general | EYA | Biomedicine general | Eyes absent | Cell migration | Cell Biology | Cancer | DNA-BINDING | TRANSCRIPTIONAL ACTIVATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | THREONINE-PHOSPHATASE | TYROSINE PHOSPHATASES | EYA1 EXPRESSION | CELL FATE | CELL BIOLOGY | BRANCHIOOTORENAL BOR SYNDROME | SINE-OCULIS | FATE DETERMINATION FACTOR | DUAL-SPECIFICITY PHOSPHATASES | Humans | Immunity, Innate - genetics | Eye Proteins - chemistry | Protein Tyrosine Phosphatases - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | DNA Repair - genetics | Trans-Activators - chemistry | Cell Movement - genetics | Trans-Activators - physiology | DNA-Binding Proteins - metabolism | Drosophila Proteins - physiology | Protein Tyrosine Phosphatases - chemistry | Neoplasms - genetics | Branchio-Oto-Renal Syndrome - genetics | DNA-Binding Proteins - physiology | Neovascularization, Physiologic - genetics | Embryonic Development - genetics | Branchio-Oto-Renal Syndrome - pathology | Nuclear Proteins - metabolism | Drosophila Proteins - chemistry | Nuclear Proteins - chemistry | DNA-Binding Proteins - chemistry | Cell Polarity - genetics | Animals | Intracellular Signaling Peptides and Proteins - chemistry | Trans-Activators - metabolism | Eye Proteins - physiology | Nuclear Proteins - physiology | Intracellular Signaling Peptides and Proteins - physiology | Neoplasms - pathology | Protein Tyrosine Phosphatases - physiology | Proteins | Developmental biology | Analysis | Pathogenesis | Cell adhesion & migration | Indexing in process | cell migration | Eyes Absent | cancer | organ development | angiogenesis
Journal Article
Journal Article
Nature Structural and Molecular Biology, ISSN 1545-9993, 05/2013, Volume 20, Issue 4, pp. 447 - 453
Journal Article
Journal Article