Single gene influences on radiologically-detectable malformations of the inner ear

This publication has 42 references indexed in Scilit:

• Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
  Nature Genetics, 1997
• A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family
  Nature Genetics, 1997
• Phenotypic manifestations of branchiootorenal syndrome
  American Journal of Medical Genetics, 1995
• Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
  Human Molecular Genetics, 1995
• Defective myosin VIIA gene responsible for Usher syndrome type IB
  Nature, 1995
• Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria
  American Journal of Medical Genetics, 1995
• Mondini dysplasia and congenital cytomegalovirus infection
  The Journal of Pediatrics, 1994
• Fountain's syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips.
  Journal of Medical Genetics, 1989
• The variable intrafamiliar expressivity in Pendred's syndrome
  Clinical Otolaryngology, 1989
• CT-Scanning of the cochlea in Pendred's syndrome
  Clinical Otolaryngology, 1989