National Repository of Grey Literature 2 records found  Search took 0.00 seconds. 
Origin, migration and differentiation germ cell in the embryonic and fetal period of human development.
Kovačičová, Denisa ; Semecký, Vladimír (advisor) ; Kovařík, Miroslav (referee)
The aim of the thesis is to make a review of academic literature and databases related to topics of embryonal and fetal development, morphology and physiology of male gonads. This work describes also the genetic determination of sex development. One chapter is dedicated to describing two methods (histological method and FISH), which are used to diagnosing diseases related to mistakes in ontogenesis. The last chapter deals with two diseases - the Klinefelter syndrome as the most frequent numeric gonosomal aberration of men, and persistent Müllerian duct syndrome as a defect of development of men with normal karyotype. Finally, the complexity of topics of this thesis is discussed. Key words: germ cells, spermatogenesis, sex determination, Klinefelter syndrome, persistent Müllerian duct syndrome
Molecular basis of human congenital anomalies
Kovačičová, Denisa ; Šípek, Antonín (advisor) ; Rothová, Olga (referee)
This bachelor thesis deals with the topic of congenital anomalies. The sorting of the congenital anomalies is discussed in the first two chapters. The third chapter concerns the mutations of the short arm of chromosome 17. I have chosen to describe the Smith - Magenis syndrome, which is caused by the deletion of 17p11.2, and the Potocki - Lupski syndrome, which is its reciprocal duplication. The gene RAI1 is specified in this part. The other topic mentioned in this thesis are RASopathies. The research of this section deals with the Noonan syndrome and focuses on mutations in genes PTPN11, SOS1, RAF1, KRAS and NRAS. In the fifth chapter the issue of thalidomide, its history and the mechanisms of action discovered up to now are described. The critical period and the mechanisms of limb reduction defects related to the timing of exposure are also defined here. New methods and findings related to these topics are discussed in the end of this work. Key words: congenital anomalies, teratology, ontogenesis, Potocki - Lupski syndrome, Smith - Magenis syndrome, RASopathies, Noonan syndrome, thalidomide

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