Pediatrics - Basic Science/Genetics News & Articles

1 Genetic and Functional Analysis of the NKX2-5 Gene Promoter in Patients With Ventricular Septal Defects Pediatric Cardiology, May 23, 2012

2 Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations European Journal of Pediatrics, May 17, 2012

3 HLA-DRB, -DQA, and DQB alleles and haplotypes in Iranian patients with diabetes mellitus type I Pediatric Diabetes, May 17, 2012

4 Expression of Microbiota, Toll-like Receptors, and Their Regulators in the Small Intestinal Mucosa in Celiac Disease Journal of Pediatric Gastroenterology and Nutrition, May 17, 2012

5 Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome European Journal of Pediatrics, May 16, 2012

6 Stress Transient Hypertrophic Cardiomyopathy and B-Type Natriuretic Peptide Role Pediatric Cardiology, May 16, 2012

7 Full Monosomy 21: Echocardiographic Findings in the Third Molecularly Confirmed Case Pediatric Cardiology, May 16, 2012

8 Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY Journal of Developmental and Behavioral Pediatrics, May 15, 2012

9 A Novel mtDNA Large-Scale Mutation Clinically Exclusively Presenting With Refractory Anemia: Is There a Chance to Predict Disease Progression Journal of Pediatric Hematology/Oncology, May 14, 2012

10 A Novel Mutation of Ribosomal Protein S10 Gene in a Japanese Patient With Diamond-Blackfan Anemia Journal of Pediatric Hematology/Oncology, May 14, 2012

11 Pseudotumor Cerebri in a Turkish Boy With Fanconi Anemia Journal of Pediatric Hematology/Oncology, May 14, 2012

12 Obese Mexican American Children Have Elevated MCP-1, TNF-alpha, Monocyte Concentration, and Dyslipidemia Pediatrics, May 10, 2012

13 Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia Pediatric Blood & Cancer, May 4, 2012

14 SUV-measurements and patient-specific corrections thereof in pediatric Hodgkin-lymphoma: Is there a benefit for PPV in early response assessment by FDG-PET Pediatric Blood & Cancer, May 4, 2012

15 Complete morphologic and molecular remission after introduction of dasatinib in the treatment of a pediatric patient with t-cell acute lymphoblastic leukemia and ABL1 amplification Pediatric Blood & Cancer, May 4, 2012

16 Genetic evaluation of childhood acute lymphoblastic leukemia in Iraq using FTA cards Pediatric Blood & Cancer, May 3, 2012

17 Bilateral wilms tumors (WT) treated with the SIOP 93 protocol in France: Epidemiological survey and patient outcome Pediatric Blood & Cancer, May 3, 2012

18 18F-FDG microPET imaging detects early transient response to an IGF1R inhibitor in genetically engineered rhabdomyosarcoma models Pediatric Blood & Cancer, May 3, 2012

19 Association of adrenergic receptor gene polymorphisms with adolescent obesity in Taiwan Pediatrics International, May 1, 2012

20 Dopamine D2 receptor gene polymorphisms in newborn infants of drug-using women BMJ - ADC - Fetal and Neonatal, May 1, 2012

1 Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome Pediatrics, April 16, 2012

2 Calsequestrin Mutations and Catecholaminergic Polymorphic Ventricular Tachycardia Pediatric Cardiology, April 3, 2012

3 Interleukin-6 polymorphism and bronchopulmonary dysplasia risk in very low birth weight infants Pediatrics International, April 10, 2012

4 Genetic basis of apnoea of prematurity and caffeine treatment response: role of adenosine receptor polymorphisms Acta Pediatrica, April 20, 2012

5 Similar DNA methylation levels in specific imprinting control regions in children conceived with and without assisted reproductive technology: a cross-sectional study BMC Pediatrics, April 3, 2012    Free full text

6 Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia Pediatric Pulmonology, March 27, 2012

7 Initial testing (stage 1) of the cyclin dependent kinase inhibitor SCH 727965 (dinaciclib) by the pediatric preclinical testing program Pediatric Blood & Cancer, March 22, 2012

8 Gene therapy: Progress in childhood disease Journal of Paediatrics and Child Health, March 26, 2012

9 Lack of an association between E-selectin gene polymorphisms and the risk of Kawasaki disease Pediatrics International, April 18, 2012

10 A patient with X-linked dyskeratosis congenita presenting with bronchiolitis obliterans requiring lung transplantation and immunodeficiency Pediatric Pulmonology, March 30, 2012

11 Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up Pediatric Diabetes, April 26, 2012

12 Benign Neonatal Sleep Myoclonus: An Autosomal Dominant Form Not Allelic to KCNQ2 or KCNQ3 Journal of Child Neurology, April 16, 2012

13 Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases Acta Pediatrica, April 20, 2012

14 Current Management of Juvenile Myelomonocytic Leukemia and the Impact of RAS Mutations Pediatric Drugs, April 25, 2012

15 Intellectual Interest Mediates Gene × Socioeconomic Status Interaction on Adolescent Academic Achievement Child Development, March 23, 2012

16 Clinical significance of pulmonary nodules detected by CT and Not CXR in patients treated for favorable histology Wilms tumor on national Wilms tumor studies-4 and -5 Pediatric Blood & Cancer, March 29, 2012

17 Gene CNVs and protein levels of complement C4A and C4B as novel biomarkers for partial disease remissions in new-onset type 1 diabetes patients Pediatric Diabetes, April 20, 2012

18 Association of IL-1beta -511 Polymorphism With Severe Veno-occlusive Disease in Pediatric-matched Allogeneic Hematopoietic Stem Cell Transplantation Journal of Pediatric Hematology/Oncology, April 25, 2012

19 LPIN1 rs13412852 Polymorphism in Pediatric Nonalcoholic Fatty Liver Disease Journal of Pediatric Gastroenterology and Nutrition, April 19, 2012

20 Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia Pediatric Diabetes, April 24, 2012