Pediatrics - Basic Science/Genetics News & Articles

21 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

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

23 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

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

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

26 22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases Pediatric Cardiology, May 8, 2013    Review Article

27 Type I Hyper IgM Syndrome with Novel Mutation from India The Indian Journal of Pediatrics, May 8, 2013    Review Article

28 Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet The Indian Journal of Pediatrics, May 8, 2013    Review Article

29 Ischemic Infarction of Cerebral Cortex in a Child with Scorpion Sting Envenomation The Indian Journal of Pediatrics, May 8, 2013    Review Article

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

31 Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene Pediatrics International, May 7, 2013

32 Association of OPRM1 and COMT Single-Nucleotide Polymorphisms With Hospital Length of Stay and Treatment of Neonatal Abstinence Syndrome JAMA, May 6, 2013    Evidence Based Medicine    Clinical Article

33 Decreased Pattern Recognition Receptor Signaling, Interferon-Signature, and Bactericidal/Permeability-Increasing Protein Gene Expression in Cord Blood of Term Low Birth Weight Human Newborns PLOS ONE, May 6, 2013    Review Article

34 A Boy With Burkitt Lymphoma Associated With Noonan Syndrome Due to a Mutation in RAF1 American Journal of Medical Genetics Part A, May 3, 2013

35 109 kb Deletion of Chromosome 4p16.3 in a Patient With Mild Phenotype of Wolf-Hirschhorn Syndrome American Journal of Medical Genetics Part A, May 3, 2013

36 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

37 Genetic risk profiles for a childhood with severely overweight Pediatric Obesity, May 1, 2013    Clinical Article

38 The distribution of interstitial cells of Cajal in congenital ureteropelvic junction obstruction International Urology and Nephrology, May 1, 2013    Review Article

39 Transient Effect of Anti-CD20 Therapy in a Child With 22q11.2 Deletion Syndrome and Severe Steroid Refractory Cytopenias: A Case Report Journal of Pediatric Hematology/Oncology, May 1, 2013

40 NUP98/JARID1A is a novel recurrent abnormality in pediatric acute megakaryoblastic leukemia with a distinct HOX gene expression pattern Leukemia, April 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