Browsing by Subject "Chromosome Mapping"

Now showing items 1-7 of 7

    • Article  

      Autosomal dominant medullary cystic kidney disease: Evidence of gene locus heterogeneity 

      Fuchshuber, A.; Constantinou-Deltas, Constantinos D.; Berthold, S.; Stavrou, Christoforos V.; Vollmer, M.; Burton, C.; Feest, T.; Krieter, D.; Gal, A.; Brandis, M.; Pierides, Alkis M.; Hildebrandt, F. (1998)
      Autosomal dominant medullary cystic kidney disease (ADMCKD
    • Article  

      Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD) 

      Christodoulou, Kyproula; Tsingis, Marios; Stavrou, Christoforos V.; Eleftheriou, Andri; Papapavlou, Petros; Patsalis, Philippos C.; Ioannou, Panayiotis A.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1998)
      There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial juvenile nephronophthisis, FJN) or by adult onset dominant inheritance (medullary cystic disease, ...
    • Article  

      Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene 

      Constantinou-Deltas, Constantinos D.; Bashiardes, Evy; Patsalis, Philippos C.; Hadjimarcou, Michael I.; Kroisel, P. M.; Ioannou, Petros A. 1953-; Roses, A. D.; Lee, J. E. (1996)
      Zinc finger genes represent a large multigene family present in mammalian and other genomes. A subgroup of these genes contain a conserved motif, the KRAB domain, at the NH2-terminal region, which was recently shown to ...
    • Article  

      Cystic diseases of the kidney molecular biology and genetics 

      Constantinou-Deltas, Constantinos D. (2010)
      Context.-Cystic diseases of the kidney are a very heterogeneous group of renal inherited conditions, with more than 33 genes involved and encompassing Xlinked, autosomal dominant, and autosomal recessive inheritance. ...
    • Article  

      Medullary cystic kidney disease type 1: Mutational analysis in 37 genes based on haplotype sharing 

      Wolf, M. T. F.; Mucha, B. E.; Hennies, H. C.; Attanasio, M.; Panther, F.; Zalewski, I.; Karle, S. M.; Otto, E. A.; Constantinou-Deltas, Constantinos D.; Fuchshuber, A.; Hildebrandt, F. (2006)
      Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant, tubulo-interstitial nephropathy that causes renal salt wasting and end-stage renal failure in the fourth to seventh decade of life. MCKD1 was localized ...
    • Article  

      Parental origin-specific developmental defects in mice with uniparental disomy for chromosome 12 

      Georgiades, Pantelis; Watkins, M.; Surani, M. A.; Ferguson-Smith, A. C. (2000)
      Genetic analysis has shown that the distal portion of mouse chromosome 12 is imprinted
    • Article  

      PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein 

      Mochizuki, Toshio; Wu, G.; Hayashi, Tomohito; Xenophontos, Stavroulla L.; Veldhuisen, B.; Saris, J. J.; Reynolds, D. M.; Cai, Y.; Gabow, P. A.; Pierides, Alkis M.; Kimberling, W. J.; Breuning, M. H.; Constantinou-Deltas, Constantinos D.; Peters, D. J. M.; Somlo, Stefan (1996)
      A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid ...