Latest Research

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  4. Cat Eye Syndrome
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Branchio-oculo-facial syndrome

  1. Mutation screening of the EYA1, SIX1, and SIX5 genes in an east asian cohort with branchio-oto-renal syndrome.
  2. Combined hamartoma of the retina and retinal pigment epithelium in a child with branchial cleft cysts.
  3. Surgical aspects of cochlear implantation in syndromic children.
  4. Branchio-oculo-facial Syndrome Presenting with Concomitant Thyroglossal Duct Cyst.
  5. A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.
  6. A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans.
  7. Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene.
  8. Diagnostic and surgical challenge: Middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies.
  9. A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.
  10. Audiovestibular findings in a branchio-oto syndrome patient with a SIX1 mutation.
  11. Craniofacial Phenotype in the Branchio-Oculo-Facial Syndrome: Four Case Reports.
  12. Acute rejection associated with donor-specific anti-MICA antibody in a highly sensitized pediatric renal transplant recipient.
  13. Preauricular sinus, nephrolithiasis, infantine eczema and natal tooth: a new association.
  14. Hearing loss disorders associated with renal disease.
  15. 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.
  16. 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.
  17. HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.
  18. Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
  19. Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.
  20. Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development.