DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 01 · Volume 01 · March 2012 DOI: 10.1055/s-005-29725

Foreword

  • 001
    Slavotinek, Anne M.:

    A much needed new journal in the field of Pediatric Genetics

    • Editorial

  • 003
    Levin-Iaina, Nomy; Dinour, Dganit:

    Renal disease with OCRL1 mutations: Dent-2 or Lowe syndrome?

    • Review Article

  • 007
    Greenberg, Cheryl; McClellan, Kelly; Avard, Denise:

    Beyond dissemination: A knowledge translation model to drive change in pediatric genetics

  • 013
    Wiwanitkit, Viroj:

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

  • 015
    Böckenhauer, Detlef; Bökenkamp, Arend; Nuutinen, Matti; Unwin, Robert; van't Hoff, William; Sirimanna, Tony; Vrljicak, Kristina; Ludwig, Michael:

    Novel OCRL mutations in patients with Dent-2 disease

  • 025
    Kobayashi, Ryosuke; Matsune, Kensuke; Ohashi, Hirofumi:

    Fused teeth, macrodontia and increased caries are characteristic features of neurofibromatosis type 1 patients with NF1 gene microdeletion

    Fused teeth, macrodontia and increased caries are characteristic features of neurofibromatosis type 1 patients with NF1 gene microdeletion
  • 033
    Shimojima, Keiko; Yamamoto, Toshiyuki:

    Growth profiles of 34 patients with Wolf-Hirschhorn syndrome

  • 039
    Chen, Xing; Tang, Jian; Liu, Yang; Luan, Meng; An, Kun; Zhang, Yan; Li, Fuhui; Zhou, Peng; Liu, Wenmin; Liu, Jintong; Chen, Gang:

    Lack of association between NCAM1 and early onset schizophrenia in a family based study in Shandong peninsula of China

  • 047
    Samanich, Joy; Montagna, Cristina; Morrow, Bernice E.; Babcock, Melanie:

    Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism

  • 055
    Smigiel, Robert; Misiak, Blazej; Golebiowski, Waldemar; Lebioda, Arleta; Dorobisz, Urszula; Zielinska, Marzena; Patkowski, Dariusz:

    Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects

  • 059
    Kodandapani, Sreelakshmi; Shetty, Jyothi; Kumar, Pratap; Girisha, Katta M.:

    Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence

  • 063
    Bouhjar, Inesse Ben Abdallah; Gmidène, Abir; Soyah, Najla; Hanene, Hannachi; Mougou, Soumaya; Elghezal, Hatem; Saad, Ali:

    Trisomy and tetrasomy 15q11-q13 diagnosed by molecular cytogenetic analysis in two patients with mental retardation