Pediatrics - Basic Science/Genetics News & Articles

121 Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations Pediatric Blood & Cancer, February 22, 2013    Review Article

122 Cytokine profiles in children with primary Epstein-Barr virus infection Pediatric Blood & Cancer, February 22, 2013

123 Pediatric rhabdoid tumors of kidney and brain show many differences in gene expression but share dysregulation of cell cycle and epigenetic effector genes Pediatric Blood & Cancer, February 22, 2013    Review Article

124 Maternal and Fetal Genetic Contributions to Postterm Birth: Familial Clustering in a Population-Based Sample of 475,429 Swedish Births American Journal of Epidemiology, February 22, 2013    Review Article

125 Successful haploidentical PBSCT with subsequent T-cell addbacks in a boy with HyperIgM syndrome presenting as severe congenital neutropenia Pediatric Transplantation, February 19, 2013

126 Pivotal role of the muscle-contraction pathway in cryptorchidism and evidence for genomic connections with cardiomyopathy pathways in RASopathies Full Text BMC Genomics, February 18, 2013

127 Rising Serum Thyroxine Levels and Chorea in Graves' Disease Pediatrics, February 18, 2013

128 Hospitalizations among people with Down syndrome: A nationwide population-based study in Denmark American Journal of Medical Genetics Part A, February 15, 2013    Review Article

129 Prognostic value of circulating levels of stem cell growth factor beta (SCGF beta) in patients with Chagas' disease and idiopathic dilated cardiomyopathy Cytokine, February 13, 2013    Review Article

130 Epithelial calcium-sensing receptor activation by eosinophil granule protein analog stimulates collagen matrix contraction Pediatric Research, February 12, 2013    Review Article

131 Genome, epigenome and transcriptome analyses of a pair of monozygotic twins discordant for systemic lupus erythematosus Human Immunology, February 11, 2013    Review Article

132 Functioning of peripheral Ia pathways in infants with Myelomeningocele Infant Behavior and Development, February 7, 2013    Review Article

133 Mixed miniature postsynaptic currents resulting from co-release of glycine and GABA recorded from glycinergic neurons in the neonatal respiratory network European Journal of Neuroscience, February 7, 2013    Review Article

134 Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype European Journal of Pediatrics, February 6, 2013

135 Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance European Journal of Pediatrics, February 6, 2013

136 ADCYAP1R1 and Asthma in Puerto Rican Children American Journal of Respiratory and Critical Care Medicine, February 5, 2013    Clinical Article

137 Severe Combined Immunodeficiency Resulting From Mutations in MTHFD1 Pediatrics, February 5, 2013    Review Article

138 Change in Prevalence of Congenital Defects in Children With Prader-Willi Syndrome Pediatrics, January 31, 2013    Clinical Article

139 Prune-Belly Syndrome: Case Series and Review of the Literature Regarding Early Prenatal Diagnosis, Epidemiology, Genetic Factors, Treatment, and Prognosis Fetal and Pediatric Pathology, January 30, 2013    Review Article

140 Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene Clinical Endocrinology, January 29, 2013    Review Article

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