Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

This publication has 31 references indexed in Scilit:

• Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome
  American Journal of Human Genetics, 2007
• Phenotypic Overlap between Infantile Systemic Lupus Erythematosus and Aicardi-Goutières Syndrome
  Neuropediatrics, 2005
• A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
  Journal of Medical Genetics, 2005
• Genetic syndromes mimic congenital infections
  The Journal of Pediatrics, 2005
• Cerebral Thrombotic Microangiopathy and Antiphospholipid Antibodies in Aicardi-Goutieres Syndrome - Report of Two Sisters
  Neuropediatrics, 2005
• Two brothers with findings resembling congenital intrauterine infection‐like syndrome (pseudo‐TORCH syndrome)
  American Journal of Medical Genetics Part A, 2003
• Systemic Lupus Erythematosus or Aicardi-Goutières Syndrome?
  Neuropediatrics, 2000
• Familial Systemic Lupus Erythematosus and Congenital Infection-Like Syndrome
  Neuropediatrics, 2000
• Aicardi-Goutières Syndrome: An Expanding Phenotype
  Neuropediatrics, 1998
• The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).
  Journal of Medical Genetics, 1995