Pena-Shokeir syndrome type I

Known as: Lethal Pena-Shokeir 1 syndrome, Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings, FADS 
A condition characterized by fetal akinesia and intrauterine growth restriction, that may be associated with mutation(s) in the RAPSN or DOK7 genes… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1944-2017
010203019442016

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically… (More)
Is this relevant?
Highly Cited
2011
Highly Cited
2011
BACKGROUND Blood and tissue long-chain polyunsaturated fatty acid (LC-PUFA) amounts, which have been associated with early… (More)
  • figure 1
  • table 1
  • table 3
  • figure 2
Is this relevant?
Highly Cited
2010
Highly Cited
2010
Genetic variability in the FADS1-FADS2 gene cluster [encoding delta-5 (D5D) and delta-6 (D6D) desaturases] has been associated… (More)
  • figure 1
  • table 1
  • table 2
  • figure 2
  • figure 3
Is this relevant?
Highly Cited
2008
Highly Cited
2008
BACKGROUND The delta-5 and delta-6 desaturases, encoded by FADS1 and FADS2 genes, are key enzymes in polyunsaturated fatty acid… (More)
  • figure 1
  • table 1
  • figure 2
  • figure 3
  • table 2
Is this relevant?
Highly Cited
2008
Highly Cited
2008
Polymorphisms of the human Δ-5 (FADS1) and Δ-6 (FADS2) desaturase genes have been recently described to be associated with the… (More)
  • table 1
  • table 2
  • figure 1
  • figure 2
  • figure 2
Is this relevant?
2008
2008
Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FADS), and is triggered by… (More)
  • figure 1
  • figure 2
  • table 1
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2003
Highly Cited
2003
OBJECTIVE To investigate cognitive and behavioural effects of bilateral lead implants for high frequency stimulation (HFS) of the… (More)
  • table 1
  • table 2
  • table 5
Is this relevant?
Highly Cited
2002
Highly Cited
2002
OBJECTIVE Age is an important risk factor for osteoarthritis (OA). During aging, nonenzymatic glycation results in the… (More)
Is this relevant?
Highly Cited
1999
Highly Cited
1999
OBJECTIVES Catatonia is a psychomotor syndrome with concomittant akinesia and anxiety which both respond almost immediately to… (More)
  • table 1
  • table 2
Is this relevant?
Highly Cited
1984
Highly Cited
1984
Three patients showed dramatic psychic akinesia after recovery from toxic encephalopathy. They had no or only mild motor… (More)
  • figure 2
  • figure 3
Is this relevant?