Miller Dieker syndrome

Known as: lissencephaly syndrome, Syndrome, Miller-Dieker Lissencephaly, Lissencephaly Syndrome, Miller-Dieker 
A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1971-2018
051019712018

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2005
2005
Miller Dieker syndrome (MDS, type I lissencephaly) is a neuronal migration disorder, which is caused by deletions along the short… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2004
2004
Lissencephaly is characterized by a thickened cortex and loss of gyri, resulting in the brain having a smooth surface. Patients… (More)
  • figure 1
  • table 1
Is this relevant?
Highly Cited
1997
Highly Cited
1997
Classical lissencephaly (smooth brain) or generalized agyria-pachygyria is a severe brain malformation which results from an… (More)
  • figure 1
  • table 1
  • figure 2
  • table 2
  • figure 3
Is this relevant?
Highly Cited
1997
Highly Cited
1997
Miller-Dieker syndrome (MDS) is a multiple malformation syndrome characterized by classical lissencephaly and a characteristic… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
1993
Highly Cited
1993
Lissencephaly (agyria-pachygyria) is a human brain malformation manifested by a smooth cerebral surface and abnormal neuronal… (More)
Is this relevant?
Highly Cited
1991
Highly Cited
1991
We report results of clinical, cytogenetic, and molecular studies in 27 patients with Miller-Dieker syndrome (MDS) from 25… (More)
Is this relevant?
1991
1991
A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features… (More)
  • figure I
  • figure 2
  • figure 3
Is this relevant?
1984
1984
The Miller-Dieker Syndrome (MDS) consists of lissencephaly, characteristic facies, pre- and postnatal growth retardation, plus… (More)
  • figure 3
  • figure 6
  • figure 7
  • table 1
Is this relevant?
1984
1984
Lissencephaly (smooth-brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth… (More)
Is this relevant?
1980
1980
Four unrelated children with the Miller-Dieker syndrome, previously referred to as the lissencephaly syndrome, have been… (More)
Is this relevant?