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10 (0,076s) •

Projekt

Molecular basis of congenital microcephaly - using molecular genetics and molecular cytogenetic methods for detection of etiology of different types of microcephaly and evaluation of clinical and genetic prognosis (NR7916)

Detection of structural submicroscopic chromosomal aberrations and gene mutations in MCPH genes and genes reponsible for syndromic congenital microcephalies (NBS1, MSS) in a cohort of patients with congenital microcephaly. Estimation of frequency of ...

EB - Genetika a molekulární biologie

  • 2004 - 2007
    • •
  • 2 975 tis. Kč
    • •
  • 2 541 tis. Kč
    • •
  • MZ
Projekt

Submicroscopic chromosomal deletions - genotype-phenotype relation and a longitudinal study of patients (NE6912)

significant microdeletion syndromes, longitudinal follow up of phenotype changes procedurRecommendation of an algorithm of procedures how to investigate patients with microdeletion syndromes for medical specialists who can see pati...

FG - Pediatrie

  • 2002 - 2005
    • •
  • 3 306 tis. Kč
    • •
  • 3 207 tis. Kč
    • •
  • MZ
Projekt

Immunity in pacients with diGeorge syndrome-project II. correlation of genotype and fenotype (NI7410)

microdeletion on chromosome 22 and subsequent complex symptomatology including missing patients are tested for 22q11 microdeletion by in situ hybridisation FISH. Patients with diGeorge phenotype, but not proven 22q11 vaste micr...

FN - Epidemiologie, infekční nemoci a klinická imunologie

  • 2003 - 2005
    • •
  • 1 433 tis. Kč
    • •
  • 1 422 tis. Kč
    • •
  • MZ
Projekt

Microdeletion syndromes, genotype-phenotype relations (NE5685)

Selected microdeletion syndromes will be diagnosed according to the phenotype and by the use of molecular cytogenetic and molecular genetic methods. Genotype-phenotype ralationships will be analysed with respect to the size and character of ...

FG - Pediatrie

  • 1999 - 2001
    • •
  • 2 196 tis. Kč
    • •
  • 2 196 tis. Kč
    • •
  • MZ
Projekt

CATCH 22 Immune functions in patients with 22.11q microdeletion and the development of immunity in children with diGeorge syndrome (NI6247)

CATCH 22 is the name for cluster of diseases, syndrome di George included, based on microdeletion in the region 11q on 22 chromosome. We plan to follow the development of immune function in the absence of thymus in children with fiGeorge syn...

FN - Epidemiologie, infekční nemoci a klinická imunologie

  • 2000 - 2002
    • •
  • 1 361 tis. Kč
    • •
  • 1 361 tis. Kč
    • •
  • MZ
Projekt

New approaches to early diagnostics of autism (LD11028)

Development of new methods which could be broadly used for early diagnostics of autism both in the Czech Republic and abroad. Special emphasis on "at risk" younger siblings of autistic children who have already been diagnosed.......

FL - Psychiatrie, sexuologie

  • 2011 - 2014
    • •
  • 3 212 tis. Kč
    • •
  • 2 419 tis. Kč
    • •
  • MŠMT
Projekt

The usage of FISH metods (LSI and MFISH)and echocardiography for the complex diagnostic systém of congenital heart diseases. (NM6080)

(or nonexistesion) of microdeletion. MFISH-Automatic image acquisition,merging the grey scale...

FG - Pediatrie

  • 2000 - 2002
    • •
  • 2 955 tis. Kč
    • •
  • 2 955 tis. Kč
    • •
  • MZ
Projekt

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

rearrangements, microdeletions, specification of supranumerary marker chromosomes. Detailed...

EB - Genetika a molekulární biologie

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

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

The genetic basis of autism is best described by the model of multiple rare variants of strong effect. The goal of the project is to identify these defects. About 100 selected unrelated patients will be tested for microdeletions and microdup...

EB - Genetika a molekulární biologie

  • 2013 - 2015
    • •
  • 7 088 tis. Kč
    • •
  • 7 088 tis. Kč
    • •
  • MZ
Projekt

Genetic cauases of male infertility and chronic pancreatitis analysis of CBAVD/azoospermic patients and patients with idiopathic chronic pancreatitis from ethnically related populations of the Czech Republic and Poland. (ME 451)

Identification of cystic fibrosis (CF) CFTR gene mutations and Y chromosomal microdeletions of the DAZ locus in patients with congenital bilateral absence of vas deferrens and in azoospermic patients /sperm counts of less than 1x 106 / ml. I...

FP - Ostatní lékařské obory

  • 2001 - 2001
    • •
  • 300 tis. Kč
    • •
  • 280 tis. Kč
    • •
  • MŠMT
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