DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 03 · Volume 02 · September 2013 DOI: 10.1055/s-005-29730

  • 113
    Soellner, Lukas; Spengler, Sabrina; Begemann, Matthias; Wollmann, Hartmut A.; Binder, Gerhard; Eggermann, Thomas:

    IGF1R mutation analysis in short children with Silver-Russell syndrome features

  • 119
    Vidal, Adriana C.; Overcash, Francine; Murphy, Susan K.; Murtha, Amy P.; Schildkraut, Joellen M.; Forman, Michele R; Demark-Wahnefried, Wendy; Kurtzberg, Joanne; Skaar, David; Jirtle, Randy L.; Hoyo, Cathrine:

    Associations between birth and one year anthropometric measurements and IGF2 and IGF2R genetic variants in African American and Caucasian American infants

  • 129
    Alcántara-Ortigoza, Miguel A.; Martínez-Bernal, Astrid B.; Belmont-Martínez, Leticia; Vela-Amieva, Marcela; Angel, Ariadna González-del:

    CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis

  • 133
    Ramos-Trujillo, Elena; Claverie-Martin, Felix; Garcia-Nieto, Victor; Ariceta, Gema; Vara, Julia; Gonzalez-Acosta, Hilaria; Garcia-Ramirez, Marta; Fons, Jaime; Cordoba-Lanus, Elizabeth; Gonzalez-Paredes, Javier; Valenciano, Blanca; Ramos, Leticia; Muley, Rafael; Caggiani, Marina; Alvarez-Estrada, Pilar; Madrid, Alvaro; the RenalTube Group:

    Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene

    • Case Report

  • 141
    Udayakumar, Achandira M.; Al-Kindy, Adila:

    A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome

  • 147
    Abdallah-Bouhjar, Inesse B.; Mougou-Zerelli, Soumaya; Hannachi, Hanene; Gmidène, Abir; Labalme, Audrey; Soyah, Najla; Sanlaville, Damien; Saad, Ali; Elghezal, Hatem:

    Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients

  • 157
    Butler, Merlin G.; Usrey, Kelly M.; Roberts, Jennifer L.; Manzardo, Ann M.; Schroeder, Stephen R.:

    20q13.2-q13.33 deletion syndrome: A case report

  • 163
    Sharma, Pankaj; Gupta, Neerja; Chowdhury, Madhumita R.; Sapra, Savita; Shukla, Rashmi; Lall, Meena; Kabra, Madhulika:

    Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p

    • Erratum

  • 171
    Castro-Sánchez, Sheila; Álvarez-Satta, María; Valverde, Diana:

    Bardet-Biedl syndrome: A rare genetic disease