Affiliation: Friedrich Schiller University
- Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocationJ 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...
- Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndromeJ 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...
- 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....
- 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 literatureJörg 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...
- Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase geneJ 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...
- Radiological aspects of the Poland syndrome and implications for treatment: a case study and reviewHans 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...
- Pediatric brain MRI in neurofibromatosis type IHans 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...
- Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3Anna 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...