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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Detection of Cytomegalovirus DNA in Dried Blood Spots of Minnesota Infants Who Do Not Pass Newborn Hearing Screening
The Pediatric Infectious Disease Journal, 10/14/09

Genetics of food allergy
Current Opinion in Pediatrics, 10/23/09

Genetic forms of hypopituitarism and their manifestation in the neonatal period
Early Human Development, 10/30/09

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Depressive tendency in children with growth hormone deficiency
Journal of Paediatrics and Child Health, 10/23/09

Maternal Licorice Consumption and Detrimental Cognitive and Psychiatric Outcomes in Children
American Journal of Epidemiology, 10/06/09

The Glucagon Test in the Diagnosis of Growth Hormone Deficiency in Children With Short Stature Younger than 6 Years
Journal of Clinical Endocrinology and Metabolism, 10/29/09

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