Pediatrics - Basic Science/Genetics News & Articles

41 Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity Human Molecular Genetics, April 11, 2013    Review Article

42 Mutation in the SLC29A3 Gene: A New Cause of a Monogenic, Autoinflammatory Condition Pediatrics, April 10, 2013

43 Beta1-Adrenoceptor mRNA level reveals distinctions between infantile hemangioma and vascular malformations Pediatric Research, April 8, 2013    Review Article

44 Monozygotic twin discordant for Down syndrome: mos 47,XX,+21/46,XX and 46,XX European Journal of Pediatrics, April 8, 2013    Review Article

45 Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia European Journal of Pediatrics, April 8, 2013    Review Article

46 Cannabinoid CB2 receptor gene (CNR2) polymorphism is associated with chronic childhood immune thrombocytopenia in Egypt Blood Coagulation & Fibrinolysis, April 8, 2013    Review Article

47 Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: A European case European Journal of Paediatric Neurology, April 5, 2013    Review Article

48 BAX/BCL2 RMFI Ratio Predicts Better Induction Response in Pediatric Patients With Acute Myeloid Leukemia Pediatric Blood & Cancer, April 5, 2013    Review Article

49 PAX-FOXO1 Fusion Status Drives Unfavorable Outcome for Children With Rhabdomyosarcoma: A Childrens Oncology Group Report Pediatric Blood & Cancer, April 5, 2013    Review Article

50 Human Leukocyte Antigen DQ2.2 and Celiac Disease Journal of Pediatric Gastroenterology and Nutrition, April 3, 2013

51 Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes Pediatric Diabetes, April 3, 2013

52 Prenatal Ultrasound and MRI Diagnosis of Jeune Syndrome Type I (Asphyxiating Thoracic Dystrophy) with Histology and Post-Mortem Three-Dimensional CT Confirmation Fetal and Pediatric Pathology, April 3, 2013    Review Article

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

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

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

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

57 The CD95/CD95L pathway is involved in phagocytosis-induced cell death of monocytes and may account for sustained inflammation in neonates Pediatric Research, March 28, 2013    Review Article

58 The Challenge of Growth Hormone Deficiency Diagnosis and Treatment during the Transition from Puberty into Adulthood Frontiers in Endocrinology, March 26, 2013    Review Article

59 Mutation in the SLC29A3 Gene: A New Cause of a Monogenic, Autoinflammatory Condition Pediatrics, March 26, 2013    Review Article

60 NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome Pediatric Nephrology, March 26, 2013    Clinical Guideline

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

2 Mitochondrial abnormalities in temporal lobe of autistic brain Neurobiology of Disease , April 23, 2013    Review Article

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

4 A Randomized Double-Blind, Placebo-Controlled Trial of Minocycline in Children and Adolescents with Fragile X Syndrome Journal of Developmental and Behavioral Pediatrics, April 19, 2013    Review Article

5 Long term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement Prenatal Diagnosis, April 23, 2013    Review Article

6 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

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

8 Characterization of AQP-2 gene mutation (R254Q) in a family with dominant nephrogenic DI Pediatrics International, March 5, 2013

9 Folic acid uptake by the human syncytiotrophoblast is affected by gestational diabetes, hyperleptinemia, and TNF-alphak Pediatric Research, March 5, 2013    Review Article

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

11 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

12 Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity Human Molecular Genetics, April 11, 2013    Review Article

13 Progress in understanding the genetics of bronchopulmonary dysplasia Seminars in Perinatology, April 15, 2013    Review Article

14 Mutation in the SLC29A3 Gene: A New Cause of a Monogenic, Autoinflammatory Condition Pediatrics, April 10, 2013

15 Genetic associations with neonatal thyroid-stimulating hormone levels Pediatric Research, March 5, 2013    Review Article

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

17 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

18 Left-Ventricular Noncompaction in an Infant With Trisomy 21 Pediatric Cardiology, March 19, 2013    Review Article

19 Feasibility of Reduced-Intensity Allogeneic Stem Cell Transplantation With Imatinib in Children With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia Pediatric Blood & Cancer, March 7, 2013

20 Geographic and urban--rural disparities in the total prevalence of neural tube defects and their subtypes during 2006--2008 in China: a study using the hospital-based birth defects surveillance system BMC Public Health, March 6, 2013    Free full text    Review Article