Clinically Distinct Epigenetic Subgroups in Silver-Russell Syndrome: The Degree of H19 Hypomethylation Associates with SRS Phenotype Severity and Genital and Skeletal Anomalies

Antzeko izenburuak

• A Narrow Segment of Maternal Uniparental Disomy of Chromosome 7q31-qter in Silver-Russell Syndrome Delimits a Candidate Gene Region
  nork: Hannula, Katariina, et al.
  Argitaratua: (2001)
• Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children
  nork: Muurinen, Mari, et al.
  Argitaratua: (2017)
• Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7
  nork: Hannula-Jouppi, Katariina, et al.
  Argitaratua: (2014)
• Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?
  nork: HANNULA, K., et al.
  Argitaratua: (2001)
• Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype
  nork: Bliek, Jet, et al.
  Argitaratua: (2006)