Volume 1, Number 1, Year 2012

Anne M. Slavotinek
A much needed new journal in the field of Pediatric Genetics

Editorial Article
Nomy Levin-Iaina and Dganit Dinour
Renal disease with OCRL1 mutations: Dent-2 or Lowe syndrome?

Review Articles
Cheryl Greenberg, Kelly McClellan, and Denise Avard
Beyond dissemination: A knowledge translation model to drive change in pediatric genetics

Viroj Wiwanitkit
Prenatal testing: A method for early detection of genetic disorders among fetuses in Thailand, a data between the year 1990 and 2010

Original Articles
Detlef Böckenhauer, Arend Bökenkamp, Matti Nuutinen, Robert Unwin, William van't Hoff, Tony Sirimanna, Kristina Vrljicak, and Michael Ludwig
Novel OCRL mutations in patients with Dent-2 disease

Ryosuke Kobayashi, Kensuke Matsune, and Hirofumi Ohashi
Fused teeth, macrodontia and increased caries are characteristic features of neurofibromatosis type 1 patients with NF1 gene microdeletion

Keiko Shimojima and Toshiyuki Yamamoto
Growth profiles of 34 patients with Wolf-Hirschhorn syndrome

Xing Chen, Jian Tang, Yang Liu, Meng Luan, Kun An, Yan Zhang, Fuhui Li, Peng Zhou, Wenmin Liu, Jintong Liu, and Gang Chen
Lack of association between NCAM1 and early onset schizophrenia in a family based study in Shandong peninsula of China

Joy Samanich, Cristina Montagna, Bernice E. Morrow, and Melanie Babcock
Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism

Robert Smigiel, Blazej Misiak, Waldemar Golebiowski, Arleta Lebioda, Urszula Dorobisz, Marzena Zielinska, and Dariusz Patkowski
Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects

Sreelakshmi Kodandapani, Jyothi Shetty, Pratap Kumar, and Katta M. Girisha
Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence

Inesse Ben Abdallah Bouhjar, Abir Gmidène, Najla Soyah, Hannachi Hanene, Soumaya Mougou, Hatem Elghezal, and Ali Saad
Trisomy and tetrasomy 15q11-q13 diagnosed by molecular cytogenetic analysis in two patients with mental retardation