Pediatrics

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15q11.2-13 Duplication, Mitochondrial Dysfunction, and Developmental Disorders
Journal of Child Neurology, 06/18/09

Frye RE - It is proposed that interactions of the duplicated SNRPN gene with nuclear respiratory factor 1 could result in destabilization of mitochondrial complex formation and activation of apoptosis under metabolic stress, resulting in the pattern of abnormalities found in the current and previously reported cases. In light of the frequency of this duplication in children with developmental dishabilles, the wider implication of the association between this duplication and mitochondrial dysfunction needs to be considered.

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Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI
Diabetes, 11/25/09

Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion
Pediatric Blood & Cancer, 11/25/09

The development and piloting of the ISPCAN Child Abuse Screening Tool-Parent version (ICAST-P)
Child Abuse and Neglect, 11/24/09

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Motor Development in Very Preterm and Very Low-Birth-Weight Children From Birth to Adolescence: A Meta-analysis
JAMA, 11/25/09

Neurodevelopmental outcomes of pediatric traumatic brain injury
Future Neurology, 11/24/09

Prevalence of Developmental Disabilities and Receipt of Special Education Services among Children with an Inborn Error of Metabolism
The Journal of Pediatrics, 11/23/09

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