Jörg Seidel

Summary

Affiliation: Friedrich Schiller University
Country: Germany

Publications

  1. ncbi Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation
    J Seidel
    Department of Pediatrics, Friedrich Schiller University, Kochstrasse 2, D 07740 Jena, Germany
    Clin Genet 59:115-21. 2001
  2. ncbi Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome
    J Seidel
    Department of Pediatrics, Friedrich Schiller University of Jena, Germany
    Cell Mol Biol (Noisy-le-grand) 47:OL141-8. 2001
  3. ncbi Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD)
    J Seidel
    Department of Pediatrics, Friedrich Schiller University Jena, Germany
    Cell Mol Biol (Noisy-le-grand) 47:OL149-57. 2001
  4. ncbi A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature
    Jörg Seidel
    Department of Paediatrics, Friedrich Schiller University, Kochstrasse 2, 07740 Jena, Germany
    Eur J Pediatr 162:582-8. 2003
  5. ncbi Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene
    J Seidel
    Department of Pediatrics, Friedrich Schiller University, Jena, Germany
    J Inherit Metab Dis 26:37-42. 2003
  6. ncbi Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements
    Heike Starke
    Institute of Human Genetics and Anthropology, Jena, Germany
    Eur J Hum Genet 10:790-800. 2002
  7. ncbi Radiological aspects of the Poland syndrome and implications for treatment: a case study and review
    Hans Joachim Mentzel
    Institute of Diagnostic and Interventional Radiology, Friedrich Schiller University, Bachstrasse 18, 07740 Jena, Germany
    Eur J Pediatr 161:455-9. 2002
  8. ncbi Pediatric brain MRI in neurofibromatosis type I
    Hans J Mentzel
    Department of Pediatric Radiology, Institute of Diagnostic and Interventional Radiology, Friedrich Schiller University Jena, Bachstrasse 18, 07740 Jena, Germany
    Eur Radiol 15:814-22. 2005
  9. ncbi Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3
    Anna Polityko
    Institute of Human Genetics and Anthropology, Jena, Germany
    Int J Mol Med 14:977-9. 2004

Collaborators

Detail Information

Publications9

  1. ncbi Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation
    J Seidel
    Department of Pediatrics, Friedrich Schiller University, Kochstrasse 2, D 07740 Jena, Germany
    Clin Genet 59:115-21. 2001
    ..Further studies are necessary to investigate genotype/phenotype correlation in cases with translocations or microdeletions on Xp22.3, including the ARSE and the SHOX gene loci...
  2. ncbi Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome
    J Seidel
    Department of Pediatrics, Friedrich Schiller University of Jena, Germany
    Cell Mol Biol (Noisy-le-grand) 47:OL141-8. 2001
    ..0006). In conclusion, mutations of the copper transporting P-type ATPase ATP7A gene cause distinct human diseases showing some genotype/phenotype correlation and implications for treatment...
  3. ncbi Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD)
    J Seidel
    Department of Pediatrics, Friedrich Schiller University Jena, Germany
    Cell Mol Biol (Noisy-le-grand) 47:OL149-57. 2001
    ....
  4. ncbi A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature
    Jörg Seidel
    Department of Paediatrics, Friedrich Schiller University, Kochstrasse 2, 07740 Jena, Germany
    Eur J Pediatr 162:582-8. 2003
    ..Further molecular genetic studies will be performed to clarify the chromosomal breakpoints potentially responsible for the observed clinical symptoms...
  5. ncbi Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene
    J Seidel
    Department of Pediatrics, Friedrich Schiller University, Jena, Germany
    J Inherit Metab Dis 26:37-42. 2003
    ..To our knowledge, this case is the first description of a patient with proven SCAD deficiency presenting with recurrent emesis but without other symptoms, and emphasizes the wide clinical phenotype of this disorder...
  6. ncbi Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements
    Heike Starke
    Institute of Human Genetics and Anthropology, Jena, Germany
    Eur J Hum Genet 10:790-800. 2002
    ..They also demonstrate that constitutional inversions affecting the pericentromeric region of chromosome 9 carry breakpoints located preferentially in 9p12 or 9q13-21.1 and less frequently in 9q12...
  7. ncbi Radiological aspects of the Poland syndrome and implications for treatment: a case study and review
    Hans Joachim Mentzel
    Institute of Diagnostic and Interventional Radiology, Friedrich Schiller University, Bachstrasse 18, 07740 Jena, Germany
    Eur J Pediatr 161:455-9. 2002
    ..The evaluation of the vascular status can be performed using colour coded duplex sonography for peripheral arteries and contrast-enhanced MR-angiography for supra-aortic arteries...
  8. ncbi Pediatric brain MRI in neurofibromatosis type I
    Hans J Mentzel
    Department of Pediatric Radiology, Institute of Diagnostic and Interventional Radiology, Friedrich Schiller University Jena, Bachstrasse 18, 07740 Jena, Germany
    Eur Radiol 15:814-22. 2005
    ..We recommend to perform serial MR imaging in children every 12 months. The frequency of follow-up in children with known brain tumors will vary with the tumor grade, biological activity and treatment...
  9. ncbi Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3
    Anna Polityko
    Institute of Human Genetics and Anthropology, Jena, Germany
    Int J Mol Med 14:977-9. 2004
    ..The recently proposed candidate gene glypican 1 (GPC1) is deleted in both reported patients...