prikaz prve stranice dokumenta Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities
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Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities
Croatian Medical Journal, 52 (2011), 3; 392-395. https://doi.org/10.3325/cmj.2011.52.392
Crkvenac Gornik, Kristina; Grubić, Zorana; Štingl, Katarina; Tonković Đurišević, Ivana; Begović, Davor

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Crkvenac Gornik, K., Grubić, Z., Štingl, K., Tonković Đurišević, I. i Begović, D. (2011). Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities. Croatian Medical Journal, 52. (3), 392-395. doi: 10.3325/cmj.2011.52.392

Crkvenac Gornik, Kristina, et al. "Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities." Croatian Medical Journal, vol. 52, br. 3, 2011, str. 392-395. https://doi.org/10.3325/cmj.2011.52.392

Crkvenac Gornik, Kristina, Zorana Grubić, Katarina Štingl, Ivana Tonković Đurišević i Davor Begović. "Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities." Croatian Medical Journal 52, br. 3 (2011): 392-395. https://doi.org/10.3325/cmj.2011.52.392

Crkvenac Gornik, K., et al. (2011) 'Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities', Croatian Medical Journal, 52(3), str. 392-395. doi: 10.3325/cmj.2011.52.392

Crkvenac Gornik K, Grubić Z, Štingl K, Tonković Đurišević I, Begović D. Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities. Croatian Medical Journal [Internet]. 06.2011. [pristupljeno 12.04.2024.];52(3):392-395. doi: 10.3325/cmj.2011.52.392

K. Crkvenac Gornik, Z. Grubić, K. Štingl, I. Tonković Đurišević i D. Begović, "Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities", Croatian Medical Journal, vol. 52, br. 3, str. 392-395, Lipanj 2011. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:863810. [Citirano: 12.04.2024.]

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Naslov (engleski)Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities
AutorKristina Crkvenac Gornik
AutorZorana Grubić
AutorKatarina Štingl
AutorIvana Tonković Đurišević
AutorDavor Begović
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Sažetak (engleski)
AIM: To determine the value of short-tandem repeat markers on the chromosome X (X-STR) for prenatal diagnostics of the chromosome X numerical disorders. ----- METHODS: We investigated the genetic variability of 5 X-markers (DXS9895, DXS6810, DXS6803, GATA172D05, and HPRTB) in 183 healthy Croatian individuals (90 men and 93 women). We also tested 13 patients with X chromosome disorders (Turner syndrome--6 cases; Klinefelter syndrome--5 cases, and Triple X syndrome--2 cases). The analysis was performed using polymerase chain reaction amplification with specific primers and electrophoresis on a polyacrylamide gel. The study was performed in 2010. ----- RESULTS: Our sample showed no significant differences in allelic frequencies of the investigated X-markers from other European populations. A set of 5 X-STR markers was sufficiently informative for a successful determination of the chromosome X numerical abnormalities. ----- CONCLUSION: Since no false positive or negative results were observed, diagnostic value of the investigated X-STR loci for prenatal detection of chromosome X numerical disorders was confirmed. Our study represents an important step toward an improved prenatal diagnostics in Croatia.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaCroatian Medical Journal
Brojčani podacivol. 52, br. 3, str. 392-395
p-ISSN0353-9504
DOIhttps://doi.org/10.3325/cmj.2011.52.392
URN:NBNurn:nbn:hr:105:863810
Datum objave publikacije2011-06
URL dokumentahttp://www.cmj.hr/2011/52/3/21674836.htm
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
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Datum i vrijeme pohrane2024-03-27 19:13:46