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Bezpośrednie oznaczanie fosforu w związkach lipidowych hemolimfy i surowicy raków

100%
Gondko R., Adamska M., Helszer Z., Zgirski A., Uniwesytet Łódzki L. N. B.
Acta Universitatis Lodziensis. Folia Biochimica et Biophysica
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1986
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vol. 5
2

Prenatal detection of maternal UPD15 in a new case with i(15p) by Timing Replication Test (TRT) and methylation analysis

88%
Constantinou M., Kaluzewski B., Helszer Z., Zajac E., Nowacka J.
Journal of Applied Genetics
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2003
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vol. 44
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issue 2
209-218
EN
DNA replication kinetics of the Prader-Willi/Angelman Critical Region (PWACR) was studied with and without synchronisation in human amniotic cell cultures obtained from 20 cases with normal karyotype and 4 cases with a marker of chromosome 15, respectively. A Timing Replication Test (TRT) was performed by synchronisation of amniotic cell cultures and followed by interphase FISH to analyse and compare the early/late replication patterns in SNRPN and UBE3A genes between the homologues of chromosome 15. Asynchronous replication patterns of the analysed genes were observed in both amniotic cell cultures but the percentage of interphase nuclei presenting with asynchronous replication was significantly increased in the cultures with synchronisation (40-51%), as compared to those without synchronisation (20-23%). The evaluations, performed by means of TRT, showed asynchronous replication patterns on control values: between 39% and 46% of cells in all the cases with inv dup(15). In contrast, the percentage of cells with asynchronous replication in the case with i(15p) was significantly decreased (3-6%), as compared to the control value, and it may be indicated by uniparental disomy of chromosome 15 (UPD15). In addition, those results have been confirmed by molecular evaluation, using the methylation diagnostic test for diagnosis of the Prader-Willi Syndrome.
3

Inv(10) in a patient with hypogonadotropic hypogonadism

88%
Helszer Z., Lach J., Nowacka J., Constantinou M., Kaluzewski B.
Journal of Applied Genetics
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2003
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vol. 44
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issue 2
225-229
EN
Hypogonadotropic hypogonadism (HH) was diagnosed in a 22-year-old patient with 46,XY,inv(10) karyotype. It may be associated with some gene mutations of chromosome X, (KAL-1: Kallman syndrome; and DAX-1: congenital adrenal hypoplasia), as well as of certain autosomes, including chromosome 10. This study aimed to: (1) elucidate the aetiopathogenesis of the disease in the studied case: (2) diagnose chromosome aberrations as accurately as possible: and (3) determine if the observed clinical picture can be referred to the diagnosed chromosomal aberration or it is a mere coincidence. The FISH technique, with the use of non-commercial DNA probes, was applied for a precise description of chromosome breaking points. The application of FISH enabled karyotype description: 46,XY, inv(10)(p15.2q11.22).ish inv(10)(p15.2q21.3)(p15?3)(q21?3)(p15conq21?2). The SSCP method revealed no mutation within the DAX-1 gene and no deletion in the KAL-1 gene.
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