Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver–Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely

Benzer Materyaller

• Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.
  Yazar:: Eggermann, T, ve diğerleri
  Baskı/Yayın Bilgisi: (1998)
• The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndrome
  Yazar:: Schönherr, Nadine, ve diğerleri
  Baskı/Yayın Bilgisi: (2007)
• Epigenetic mutations in 11p15 in Silver‐Russell syndrome are restricted to the telomeric imprinting domain
  Yazar:: Eggermann, T, ve diğerleri
  Baskı/Yayın Bilgisi: (2006)
• Exclusion of a disease relevant role of PAX4 in the aetiology of Silver-Russell syndrome: screening for mutations and determination of imprinting status
  Yazar:: MERGENTHALER, S., ve diğerleri
  Baskı/Yayın Bilgisi: (2000)
• Genomic characterisation of C7orf10 in Silver-Russell syndrome patients
  Yazar:: Meyer, E, ve diğerleri
  Baskı/Yayın Bilgisi: (2003)