Developmental Delay, Epilepsy, and Neonatal Diabetes

Known as: DEND 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2005-2017
0246820052017

Papers overview

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2012
2012
OBJECTIVE To assess performance on an age-standardized neuromotor coordination task among sulfonylurea-treated KCNJ11-related… (More)
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2011
2011
To the Editor: Patients with permanent neonatalor infancy-onset diabetes mellitus associated with activating mutations of KCNJ11… (More)
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2010
2010
To the Editor: Permanent neonatal diabetes mellitus (PNDM) is mainly caused by activating mutations in the KCNJ11 or ABCC8 genes… (More)
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2010
2010
Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal… (More)
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2008
2008
CONTEXT Mutations in the Kir6.2 subunit (KCNJ11) of the ATP-sensitive potassium channel (KATP) underlie neonatal diabetes… (More)
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2008
2008
Heterozygous activating mutations of KCNJ11 (Kir6.2) are the most common cause of permanent neonatal diabetes mellitus (PNDM) and… (More)
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2007
2007
Mutations in the pancreatic ATP-sensitive K(+) channel (K(ATP) channel) cause permanent neonatal diabetes mellitus (PNDM) in… (More)
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2007
2007
Activating mutations in the ABCC8 gene that encodes the sulfonylurea receptor 1 (SUR1) regulatory subunit of the pancreatic islet… (More)
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2006
2006
Heterozygous activating mutations in the gene encoding for the ATP-sensitive potassium channel subunit Kir6.2 (KCNJ11) have… (More)
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Highly Cited
2006
Highly Cited
2006
Heterozygous activating mutations in KCNJ11, which encodes the Kir6.2 subunit of the pancreatic ATP-sensitive potassium (KATP… (More)
  • figure 1
  • figure 2
  • figure 3
  • table 1
Is this relevant?