Progress in the understanding of connective tissue disorders

This publication has 11 references indexed in Scilit:

• The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients
  Human Mutation, 2004
• Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology
  Physiological Genomics, 2004
• Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome
  Nature Genetics, 2003
• Connective Tissue and Its Heritable Disorders
  Published by Wiley ,2002
• Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition
  Nature Genetics, 2002
• Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II)
  American Journal of Human Genetics, 2000
• COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS
  American Journal of Human Genetics, 2000
• Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome
  American Journal of Human Genetics, 1998
• Cyclic Administration of Pamidronate in Children with Severe Osteogenesis Imperfecta
  New England Journal of Medicine, 1998
• Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
  American Journal of Medical Genetics, 1998