Browsing by Author "Dauber, Andrew"

Now showing items 1-3 of 3

    • Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature 
      Wang, Sophie; Jacobsen, Christina; Carmichael, Heather; Edmund, Aaron; Robinson, Jerid; Olney, Robert; Miller, Timothy C.; Moon, Jennifer E.; Mericq, Verónica; Potter, Lincoln R.; Warman, Matthew L.; Hirschhorn, Joel N.; Dauber, Andrew (Wiley, 2015)
      Based on the observation of reduced stature in relatives of patients with acromesomelic dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous mutations in natriuretic peptide receptor-B gene ...
    • The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in ... 
      Nikkel, Sarah M.; Dauber, Andrew; Munnik, Sonja de; Connolly, Meghan; Hood, Rebecca L.; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J.; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E.; Balestri, Paolo; Ben Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; Santos da Cunha, Bruna; Delaney, Louisa A.; Destrée, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M.; Héron, Delphine; Hoischen, Alexander; Honey, Engela Magdalena; Hoefsloot, Lies H.; Ibrahim, Jennifer; Jacob, Claire M.; Kant, Sarina G.; Kim, Chong Ae; Kirk, Edwin P.; Knoers, Nine V. A.; Lacombe, Didier; Lee, Chung; Lo, Ivan F.; Lucas, Luiza S.; Mari, Francesca; Mericq, Verónica; Moilanen, Jukka S.; Møller, Sanne Traasdahl; Moortgat, Stephanie; Pilz, Daniela T.; Pope, Kate; Price, Susan; Renieri, Alessandra; Sá, Joaquim; Schoots, Jeroen; Silveira, Elizabeth L.; Simon, Marleen; Slavotinek, Anne; Temple, I. Karen; Burgt, Ineke van der; Vries, Bert B. A. de; Weisfeld Adams, James D.; Whiteford, Margo L.; Wierczorek, Dagmar; Wit, Jan M.; Fung On Yee, Connie; Beaulieu, Chandree L.; White, Sue M.; Bulman, Dennis E.; Bongers, Ernie; Brunner, Han; Feingold, Murray; Boycott, Kym M. (BioMed Central, 2013)
      Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP ...
    • An XRCC4 Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome 
      Bruin, Christiaan de; Mericq, Verónica; Andrew, Shayne F.; Duyvenvoorde, Hermine A. van; Verkaik, Nicole S.; Losekoot, Monique; Porollo, Aleksey; Garcia, Hernán; Kuang, Yi; Hanson, Dan; Clayton, Peter; Gent, Dik C. van; Wit, Jan M.; Hwa, Vivian; Dauber, Andrew (The Endocrine Society, 2015)
      Context: Severe short stature can be caused by defects in numerous biological processes including defects in IGF-1 signaling, centromere function, cell cycle control, and DNA damage repair. Many syndromic causes of short ...