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13 (0,151s) •

Project

Optimising molecular cytogenetic and molecular genetic diagnostics of chromosomal aberrations in patients with mental retardation (NR9457)

The use of FISH with locus-specific probes, mFISH, microarray CGH and MLPA in the diagnostics of idiopathic mental retardations and autism with mental retardation. Elaboration of an algorithm for patient selection for the analysis by molecul...

EB - Genetika a molekulární biologie

  • 2007 - 2009
    • •
  • 7 098 tis. Kč
    • •
  • 7 032 tis. Kč
    • •
  • MZ
Project

Molecular genetic analysis of SLC26A4 gene among Czech patients with nonsyndromic hearing loss and excluded GJB2 mutation. (NS9913)

The aim of our study is to establish the frequency and spectrum of SLC26A4 mutations, that we consider to be the second most common cause of early hearing loss. Cohort of 300 to 400 patients with early hearing loss fulfilling diagnostic criteria, inc...

FF - ORL, oftalmologie, stomatologie

  • 2008 - 2011
    • •
  • 3 182 tis. Kč
    • •
  • 3 182 tis. Kč
    • •
  • MZ
Project

Improvement of molecular diagnostics of congenital adrenal hyperplasia (CAH) (NR9308)

The aim of the project is to improve present DNA diagnostics of congenital adrenal hyperplasia (CAH) in the Czech Republic. By study of CYP21 and CYP21P genes with using of techniques such as MLPA, LR PCR, gene walking, DHPLC and sequencing ...

EB - Genetika a molekulární biologie

  • 2007 - 2009
    • •
  • 3 985 tis. Kč
    • •
  • 3 736 tis. Kč
    • •
  • MZ
Project

Complex genetic analysis of patients with mental retardation and dysmorphias - establisment of proper diagnostic procedure (NS10327)

Complex genetic analysis of patients with mental retardation and/or dysmorphias - the whole-genome cytogenetic and molecular genetic procedures (CGH, MLPA) in order to detect cryptic rearrangements, targeted examination of suspected chromoso...

EB - Genetika a molekulární biologie

  • 2009 - 2011
    • •
  • 3 288 tis. Kč
    • •
  • 3 288 tis. Kč
    • •
  • MZ
Project

The implication of genomic changes in pathogenesis of low grade brain gliomas and their correlation with H-MRSI spectroscopy and histological analysis (NT13212)

Prospective a retrospective molecular cytogenetic analysis of the tumor cell genome in patients with low-grade gliomas. Detection of specific chromosomal aberrations using I-FISH and MLPA, identification of recurrent changes in DNA sequence ...

FH - Neurologie, neurochirurgie, neurovědy

  • 2012 - 2015
    • •
  • 5 647 tis. Kč
    • •
  • 5 647 tis. Kč
    • •
  • MZ
Project

Regulation of the gene expression and new approaches to the molecular diagnostics of the ornithine transcarbamylase deficiency (NR9364)

the Multiplex Ligation Probe Amplification (MLPA) technique. Mutation analysis in newly...

EB - Genetika a molekulární biologie

  • 2007 - 2010
    • •
  • 4 890 tis. Kč
    • •
  • 4 882 tis. Kč
    • •
  • MZ
Project

Study of the Genetic Alterations in Thyroid Cancer (NT13901)

by molecular genetic methods (sequencing, TaqMan genotyping, MLPA, expression analysis...

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 2012 - 2015
    • •
  • 9 752 tis. Kč
    • •
  • 9 752 tis. Kč
    • •
  • MZ
Project

Alterations in Ikaros transcription factor and their impact on pathogenesis and prognosis of childhood acute leukemia (NT12397)

Ikaros transcription factor (IKZF1) is essential for lymphoid development. We suppose that IKZF1 alterations not only involving recently described genomic deletions, but also short isoforms expression and altered protein localization within the cell,...

FD - Onkologie a hematologie

  • 2011 - 2014
    • •
  • 6 095 tis. Kč
    • •
  • 6 095 tis. Kč
    • •
  • MZ
Project

Genetic investigation of monogenic diabetes in the Czech Republic Evaluation of clinical symptoms, treatment and quality of life (NT11402)

Monogenic diabetes (mainly the MODY subtype) may affect up to 30,000 people in the Czech Republic. However, only 1% of them are correctly diagnosed so far. Genetic investigations in candidate families will be performed by direct sequencing and gene-d...

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 2010 - 2015
    • •
  • 8 498 tis. Kč
    • •
  • 8 498 tis. Kč
    • •
  • MZ
Project

Identification of genetic defects in families of patients with autism (NT14200)

(using MLPA, FISH, array CGH etc.). In about 15-20 unrelated patients exomes...

EB - Genetika a molekulární biologie

  • 2013 - 2015
    • •
  • 7 088 tis. Kč
    • •
  • 7 088 tis. Kč
    • •
  • MZ
  • 1 - 10 out of 13