Pediatrics - Basic Science/Genetics News & Articles

1 Lightwood syndrome revisited with a novel mutation in cyp24 and vitamin D supplement recommendations The Journal of Pediatrics, June 19, 2013    Review Article

2 Response of cardiac endocrine function to surgery stress is age dependent in neonates and children with congenital heart defects: consequences in diagnostic and prognostic accuracy of brain natriuretic peptide measurement Pediatric Critical Care, June 17, 2013    Clinical Article

3 Genetic abnormalities in FOXP1 are associated with congenital heart defects Human Mutation, June 14, 2013    Review Article

4 Central nervous system involvement in anaplastic large cell lymphoma in childhood: results from a multicentre European and Japanese study Pediatric Blood & Cancer, June 14, 2013    Review Article

5 Hermansky-pudlak syndrome: health care throughout life Pediatrics, June 13, 2013    Review Article

6 RHD zygosity predicts degree of platelet response to anti-D immune globulin treatment in children with immune thrombocytopenia Pediatric Blood & Cancer, June 11, 2013    Review Article

7 Posterior fossa malformations and sex chromosomes anomalies. Report of a case with XYY syndrome and overview of known associations European Journal of Pediatrics, June 11, 2013    Review Article

8 Possible prevention of tuberous sclerosis complex lesions Pediatrics, June 10, 2013

9 Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya Pediatrics, June 10, 2013

10 Maternal mosaicism confounds the neonatal diagnosis of type 1 timothy syndrome Pediatrics, June 10, 2013

11 Early community context, genes, and youth body mass index trajectories: an investigation of gene-community interplay over early life course Journal of Adolescent Health, June 4, 2013    Review Article

12 5 alpha-reductase type 2 deficiency: response to dihydrotestosterone gel The Indian Journal of Pediatrics, June 4, 2013    Review Article

13 Pyridoxine-dependent epilepsy owing to antiquitin deficiency - mutation in the aldh7a1 gene Paediatrics and International Child Health, June 4, 2013    Review Article

14 Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment Journal of Inherited Metabolic Disease, May 31, 2013    Review Article

15 Expression of the Nrf2-system at the blood-CSF barrier is modulated by neonatal inflammation and hypoxia-ischemia Journal of Inherited Metabolic Disease, May 31, 2013    Review Article

16 Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya Pediatrics, May 28, 2013    Review Article

17 Long-term follow-up of neurological manifestations in a boy with incontinentia pigmenti European Journal of Pediatrics, May 21, 2013    Review Article

18 Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism European Journal of Pediatrics, May 21, 2013

19 Small-Platelet Thrombocytopenia in a Family With Autosomal Recessive Inheritance Pattern Pediatric Blood & Cancer, May 20, 2013

20 Correction of Poland's Syndrome: Case Report and Review of the Current Literature Breast Care, May 20, 2013

1 Treating Fragile X syndrome with the diuretic bumetanide: a case report Acta Pediatrica, May 10, 2013

2 Effects of early-life environment and epigenetics on cardiovascular disease risk in children: highlighting the role of twin studies Pediatric Research, March 14, 2013    Review Article

3 Long-term follow-up of neurological manifestations in a boy with incontinentia pigmenti European Journal of Pediatrics, May 21, 2013    Review Article

4 Incontinentia pigmenti (Bloch-Siemens syndrome) European Journal of Pediatrics, April 1, 2013    Review Article

5 Development of a mnemonic screening tool for identifying subjects with Hunter syndrome European Journal of Pediatrics, April 1, 2013    Review Article

6 Gene expression in archived newborn blood spots distinguishes infants who will later develop cerebral palsy from matched controls Pediatric Research, March 5, 2013    Review Article

7 Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation: Highlighting an Uncommon Chromosomal Abnormality Journal of Child Neurology, May 13, 2013    Review Article

8 Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome European Journal of Pediatrics, May 10, 2013    Review Article

9 22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases Pediatric Cardiology, May 8, 2013    Review Article

10 Genetic risk profiles for a childhood with severely overweight Pediatric Obesity, May 1, 2013

11 Investigation of an Outbreak of Osteoarticular Infections Caused by Kingella Kingae in a Childcare Center Using Molecular Techniques The Pediatric Infectious Disease Journal, April 25, 2013    Review Article

12 Chronic IL9 and IL-13 Exposure Leads to an Altered Differentiation of Ciliated Cells in a Well-Differentiated Paediatric Bronchial Epithelial Cell Model PLOS ONE, May 17, 2013    Review Article

13 Mitochondrial Disease: A Challenge for the Caregiver, the Family, and Society Journal of Child Neurology, March 29, 2013    Review Article

14 Subcutaneous Interferon Beta-1a in Pediatric Multiple Sclerosis: A Retrospective Study Journal of Child Neurology, May 15, 2013    Review Article

15 Correction of Poland's Syndrome: Case Report and Review of the Current Literature Breast Care, May 20, 2013

16 A Randomized Double-Blind, Placebo-Controlled Trial of Minocycline in Children and Adolescents with Fragile X Syndrome Journal of Developmental and Behavioral Pediatrics, April 22, 2013    Review Article

17 Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings The Indian Journal of Pediatrics, May 8, 2013    Review Article

18 Sex ratios at birth in the British Isles over the past sixty years European Journal of Pediatrics, April 2, 2013    Review Article

19 The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study Human Molecular Genetics, May 2, 2013    Review Article

20 Cardiovascular function in children born very preterm after intrauterine growth restriction with severely abnormal umbilical artery blood flow European Journal of Preventive Cardiology, April 25, 2013