Találati lista | Tudóstér

001-es BibID:	BIBFORM065343
Első szerző:	Bán Zoltán (nőgyógyász)
Cím:	Rapid diagnosis of triploidy of maternal origin using fluorescent PCR and DNA fragment analysis in the third trimester of pregnancy / Zoltan Bán, Bálint Nagy, Csaba Papp, Ernő Tóth-Pál, Zoltán Papp
Dátum:	2002
ISSN:	0197-3851
Megjegyzések:	OBJECTIVES:Triploidy is a common cause of spontaneous abortion in the very early stages of pregnancy. It is very rare for a prenatal diagnostic center to discover triploidy in the third trimester of pregnancy. A pregnant woman in the third trimester was referred to our genetic counselling clinic because of abnormal ultrasound findings. We planned to test for the most common chromosomal abnormalities.METHODS:We performed ultrasound examination, chorionic villus sampling, karyotyping and fluorescent-polymerase chain reaction (F-PCR) and fragment analysis.RESULTS:We diagnosed a 69,XXX karyotype fetus in the 31st week of gestation, based on a short tandem repeat (STR) pattern typical for triploidy, which was confirmed by karyotyping. The comparison of the fetal and parental STR patterns showed maternal origin of the extra haploid chromosome set.CONCLUSIONS:STR analysis of fluorescent-PCR and DNA fragment analysis is a rapid and reliable alternative to karyotyping for detection of certain aneuploidies. The method is also suitable for the determination of the origin of the extra chromosome set.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban prenatal F-PCR triploidy diagnosis rapid
Megjelenés:	Prenatal Diagnosis. - 22 (2002), p. 984-987. -
További szerzők:	Nagy Bálint (1956-) (molekuláris genetikus) Papp Csaba (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
Internet cím:	Szerző által megadott URL Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:

001-es BibID:	BIBFORM065325
Első szerző:	Lázár Levente (szülész-nőgyógyász)
Cím:	Detection of maternal deoxyribonucleic acid in peripheral blood of premature and mature newborn infants / Levente Lazár, Ágnes Harmath, Zoltán Bán, Bálint Nagy, Csaba Papp, János Rigó Jr., Zoltán Papp
Dátum:	2006
ISSN:	0197-3851
Megjegyzések:	BACKGROUND: Over the past decade, a lot of attention has been directed towards the fetomaternal and maternofetal transfer of nucleated cells and plasma DNA. In some autoimmune diseases, the fetal DNA is suspected to play an important role in the etiology of the disease. In the same way, the presence of maternal cells and free plasma DNA in fetal/newborn circulation gives rise to interesting questions. The aim of our study was to detect maternal deoxyribonucleic acid in the peripheral blood of premature and mature newborn infants. METHODS: In the case of eight RhD-positive mothers-RhD-negative newborn pairs, peripheral blood samples were collected from the newborn infants within 35-120 min after birth. The maternal origin DNA was determined by real-time PCR amplification of the exon 7 of the RhD-positive allele.RESULT:In all eight cases, the RhD exon 7 was amplified during the PCR reaction. CONCLUSION: The result of our study demonstrates that maternal DNA is present in the fetal peripheral circulation. The presence of maternally derived cells/DNA in the blood of newborn infants might have a role in the immunization of the newborn infants and also could be a possible explanation for 'grandmother effect' in the case of Rh-negative nulligravida patients.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban DNA maternal plasma peripherial blood detection
Megjelenés:	Prenatal Diagnosis. - 26 : 2 (2006), p. 168-170. -
További szerzők:	Harmath Ágnes Bán Zoltán (nőgyógyász) Nagy Bálint (1956-) (molekuláris genetikus) Papp Csaba (szülész-nőgyógyász) Rigó János (1958-) (szülész-nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:

001-es BibID:	BIBFORM065327
Első szerző:	Nagy Bálint (molekuláris genetikus)
Cím:	Rapid determination of trisomy 21 from amniotic fluid cells using single-nucleotide polymorphic loci / Balint Nagy, Zoltán Bán, Levente Lázár, Richárd Gyula Nagy, Csaba Papp, Ernő Tóth-Pál, Zoltan Papp
Dátum:	2005
ISSN:	0197-3851
Megjegyzések:	OBJECTIVES: Rapid detection of trisomy 21 is an important goal for prenatal genetic centers. Fluorescent-PCR and DNA fragment analysis was developed a decade ago and thousands of samples were analyzed in routine practice using this method. Quantitative real-time PCR with melting curve analysis using SNP markers for trisomy 21 detection was described recently. We studied the reliability of this method on a cohort of samples of Hungarian patients. METHODS: DNA was isolated with silica adsorption method from amniotic fluid cells. We investigated 67 trisomy 21 and 62 diploid samples in the study. Quantitative real-time PCR was performed using hybridization probes combined with melting curve analysis. Peak areas under the derivative curves were determined and analyzed. RESULTS: The SNP marker WIAF 899 was informative in 41.86% of cases and WIAF 2643 in 48.83%. The melting curve area ratios were significantly different between trisomic and normal cases for WIAF 899 (trisomic 0.5246 +/- 0.2498 vs 0.8347 +/- 0.5234; p < 0.001), while in the case of WIAF 2643, they were not different. CONCLUSION: Combined and selected SNP markers could be valuable tools for rapid trisomy 21 detection in prenatal genetic screening.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Trisomy21 amniotic fluid SNP determination rapid
Megjelenés:	Prenatal Diagnosis. - 25 : 12 (2005), p. 1138-1141. -
További szerzők:	Bán Zoltán (nőgyógyász) Lázár Levente (szülész-nőgyógyász) Nagy Richárd Gyula Papp Csaba (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:

001-es BibID:	BIBFORM065366
Első szerző:	Tóth Tamás (gyermekgyógyász)
Cím:	Prenatal detection of trisomy 13 from amniotic fluid by quantitative fluorescent polymerase chain reaction / Tóth T., Findlay I., Papp C., Tóth-Pál E., Marton T., Nagy B., Quirke P., Papp Z.
Dátum:	1998
ISSN:	0197-3851
Megjegyzések:	Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis from amniotic fluid. However, this requires lengthy laboratory procedures, high costs and is unsuitable for large-scale screening of pregnant women. An alternative method, which is rapid, inexpensive and suitable for diagnosing trisomies, even from single fetal cells, is the fluorescent polymerase chain reaction (PCR) using polymorphic small tandem repeats (STRs). In this paper, we present the method of rapid prenatal detection of trisomy 13 from amniotic fluid using fluorescent PCR and two highly polymorphic STRs (D13S258 and D13S631). The results obtained by quantitative fluorescent PCR amplification of fetal DNA were concordant with amniocyte karyotyping results in all cases. Two cases of trisomy 13 were detected from 212 amniotic fluids and the results obtained from D13S631 and D13S258 amplification are presented. In the first trisomy 13 case, a triallelic pattern was detected by both markers, and in the second case, D13 markers showed a characteristic 2:1 dosage allele ratio, both of which demonstrate trisomy 13 status. All other heterozygous disomic samples showed an allele intensity ratio of 1:1.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban trisomy 13 amniotic fluid quantitative fluorescent PCR
Megjelenés:	Prenatal Diagnosis. - 18 (1998), p. 669-674. -
További szerzők:	Findlay, Ian Papp Csaba (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Marton Tamás Nagy Bálint (1956-) (molekuláris genetikus) Quirke, Philip Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
Internet cím:	Szerző által megadott URL Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon: