DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 01 · Volume 03 · March 2014 DOI: 10.1055/s-005-29732

Review

001
Dutta, Usha R.: Precision in chromosome identification with leads in molecular cytogenetics: An illustrated review
009
Akrami, Seyed Mohammad; Habibi, Laleh: Retrotransposons and pediatric genetic disorders: Importance and implications

017
Fraga, Vanêssa Gomes; Gomes, Karina Braga: Adiponectin gene polymorphisms: Association with childhood obesity

Case Report

029
Rush, Eric T.; Caldwell, Kathleen S.; Kreikemeier, Rose M.; Lutz, Richard E.; Esposito, Paul W.: Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss
035
Corradi, Massimiliano; Monti, Elena; Venturi, Giacomo; Gandini, Alberto; Mottes, Monica; Antoniazzi, Franco: The recurrent causal mutation for osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide within the IFITM5 gene
041
Jerkovich, Adria M.; Butler, Merlin G.: Further phenotypic expansion of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome