X Chromosome Inactivation in Carriers of Barth Syndrome

This publication has 31 references indexed in Scilit:

• A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation
  Nature Genetics, 1997
• X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets.
  Journal of Medical Genetics, 1996
• A novel X-linked gene, G4.5. is responsible for Barth syndrome
  Nature Genetics, 1996
• X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory‐chain abnormalities in cultured fibroblasts
  Journal of Inherited Metabolic Disease, 1996
• Barth syndrome: Clinical observations and genetic linkage studies
  American Journal of Medical Genetics, 1994
• Possible X linked congenital mitochondrial cardiomyopathy in three families.
  Journal of Medical Genetics, 1993
• Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28
  American Journal of Medical Genetics, 1993
• Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
  Cell, 1991
• Two cases of endocardial fibroelastosis--possible x-linked determination.
  Heart, 1973
• Gene Action in the X-chromosome of the Mouse (Mus musculus L.)
  Nature, 1961