Clinical utility gene card for: Aniridia

This publication has 24 references indexed in Scilit:

• Clinical utility gene card for: WAGR syndrome
  European Journal of Human Genetics, 2011
• Severe Molecular Defects of a NovelFOXC1 W152GMutation Result in Aniridia
  Investigative Ophthalmology & Visual Science, 2009
• Detailed Ophthalmologic Evaluation of 43 Individuals withPAX6Mutations
  Investigative Ophthalmology & Visual Science, 2009
• Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia
  American Journal of Medical Genetics Part A, 2008
• Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations
  The American Journal of Human Genetics, 2003
• Frequent Chromosome Aberrations Revealed by Molecular Cytogenetic Studies in Patients with Aniridia
  The American Journal of Human Genetics, 2002
• Aniridia
  Journal of Glaucoma, 2002
• National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology
  Journal of Medical Genetics, 2002
• Prenatal diagnosis of aniridia11The authors have no proprietary interest in the development or marketing of the techniques mentioned in this article.
  Ophthalmology, 2000
• Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype
  European Journal of Human Genetics, 1999