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1 459 (0,086s) •

Project

Application of DNA chips (microarrays) for molecular diagnosis of inherited diseases (NR8451)

The aim of the project is to improve present DNA diagnosis in the Czech Republic. We want to increase the effectiveness of mutation analysis of inherited disorders by the introduction of the APEX microarray method.......

EB - Genetika a molekulární biologie

  • 2005 - 2007
    • •
  • 3 323 tis. Kč
    • •
  • 2 628 tis. Kč
    • •
  • MZ
Project

The occurence of the inherited metabolic disorders in early spontaneous abortions (NR8578)

The aetiology of early spontaneous abortions is multifactorial. It can be expected that part of early pregnancy losses can be caused by enzyme dificiency. The aim of our study is to investigate metabolic defects as a potential cause of abortions.......

FK - Gynekologie a porodnictví

  • 2005 - 2007
    • •
  • 1 581 tis. Kč
    • •
  • 1 578 tis. Kč
    • •
  • MZ
Project

Diagnostic significance of organic acids at inherited and non-inherited metabolic disorders. (IZ2733)

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 1995 - 1997
    • •
  • 600 tis. Kč
    • •
  • 600 tis. Kč
    • •
  • MZ
Project

The influence of X-inactivation on phenotype in comon X-linked metabolic disorder, its tissue distribution and inheritance (NR8361)

: We will search families with X-inactivation skewing to find out if the skewing is inherited in some families. We will study the inactivation by the HUMARA and similar assays. We will also study polymorphisms in Xist/TSIX. We will study tis...

EB - Genetika a molekulární biologie

  • 2005 - 2007
    • •
  • 3 901 tis. Kč
    • •
  • 3 869 tis. Kč
    • •
  • MZ
Project

Applications of DNA microarrays in molecular diagnostics, research and treatment of inherited metabolic disoders (1A8239)

Applications of DNA microarrays might significantly contribute to better diagnosis, research and treatment of inherited metabolic disorders.......

EB - Genetika a molekulární biologie

  • 2004 - 2006
    • •
  • 11 699 tis. Kč
    • •
  • 9 750 tis. Kč
    • •
  • MZ
Project

Diagnostics of inherited disorders of purine and pyrimidine metabolism usíng capillary electrophoresis. (IZ3439)

FG - Pediatrie

  • 1996 - 1998
    • •
  • 2 524 tis. Kč
    • •
  • 2 516 tis. Kč
    • •
  • MZ
Project

Mitochondrial diseases caused by inherited disorders of ATP synthase (NR7790)

Characterization of molecular etiopathogenic mechanisms of mitochondrial diseases that are caused by specific defects of mitochondrial ATP synthase due to different mutations in mtDNA ATP6 gene, or by nuclear defects affecting biosynthesis of the enz...

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 2004 - 2006
    • •
  • 6 285 tis. Kč
    • •
  • 4 359 tis. Kč
    • •
  • MZ
Project

Center of molecular medicine (VS96127)

of Inherited Metablic Disorders,Pediatric Clinic(both affiliated to the FirstFaculty, pathobiochemistry, tissue culture. Problem orientation: molecular basis of inherited diseases), to analyze the molecular basis of the ab...

CE - Biochemie

  • 1996 - 2000
    • •
  • 68 725 tis. Kč
    • •
  • 48 393 tis. Kč
    • •
  • MŠMT
Project

Molecular aspects and biochemical and clinical consequences of maternally inherited mitochondrial disorders (NR8065)

Maternally inherited mitochondrial disorders due to mtDNA mutations represent a heterogeneous group of diseases, which predominantly affect the function of tissues with high ebergetic demand (brain, muscle, heart). The aim of the pr...

EB - Genetika a molekulární biologie

  • 2004 - 2006
    • •
  • 4 910 tis. Kč
    • •
  • 4 909 tis. Kč
    • •
  • MZ
Project

Interventional treatment of life-threatening cardiovascular diseases (EF16_026/0008388)

The aim of the project is to link the experience of a clinical research institute (FNKV) with a partner (Medtronic Czechia), who will jointly participate in the research and optimization of procedures in the field of invasive treatment of cardiov...

Cardiac and Cardiovascular systems

  • 2018 - 2023
    • •
  • 116 114 tis. Kč
    • •
  • 23 617 tis. Kč
    • •
  • MŠMT
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