Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Petr, Goetz"'
1
OmniPlex-a new QF-PCR assay for prenatal diagnosis of common aneuploidies based on evaluation of the heterozygosity of short tandem repeat loci in the Czech population
Autor: Lucie Dvorakova, Lubomira Pecnova, Petr Goetz, Inna Soldatova, David Stejskal, Martina Putzová
Publikováno v: Prenatal Diagnosis. 28:1214-1220
Objectives The aim of our study was to assess the utility of commonly used multiplex assays of short tandem repeat markers used for quantitative fluorescent polymerase chain reaction (QF-PCR) for prenatal rapid aneuploidy detection (RAD) in routine p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::30d30ca62e73f7fbbce2f0e9d3978b63
https://doi.org/10.1002/pd.2151
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3
OmniPlex--a new QF-PCR assay for prenatal diagnosis of common aneuploidies based on evaluation of the heterozygosity of short tandem repeat loci in the Czech population
Autor: Martina, Putzova, Lubomira, Pecnova, Lucie, Dvorakova, Inna, Soldatova, Petr, Goetz, David, Stejskal
Publikováno v: Prenatal diagnosis. 28(13)
The aim of our study was to assess the utility of commonly used multiplex assays of short tandem repeat markers used for quantitative fluorescent polymerase chain reaction (QF-PCR) for prenatal rapid aneuploidy detection (RAD) in routine prenatal dia
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::dab1d16f8df0ad583beb5c4af0b79439
https://pubmed.ncbi.nlm.nih.gov/19012274
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5
QF-PCR-based prenatal detection of common aneuploidies in the Czech population: five years of experience
Autor: Lubomira Pecnova, Lucie Dvorakova, David Stejskal, Petr Goetz, Nada Jencikova, Martina Putzová, Inna Soldatova
Publikováno v: European journal of medical genetics. 51(3)
We present the results from the largest clinical application of QF-PCR for antenatal rapid aneuploidy detection (RAD) in routine prenatal diagnosis in the Czech Republic. QF-PCR was performed in addition to karyotyping (dual testing) in two settings:
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39b0665a569a4387bfe9ee08c8a353d9
https://pubmed.ncbi.nlm.nih.gov/18378202
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6
Polymorphisms and low plasma activity of dopamine-beta-hydroxylase in ADHD children
Autor: Marta, Kopecková, Ivo, Paclt, Petr, Goetz
Publikováno v: Neuro endocrinology letters. 27(6)
Attention-deficit Hyperactivity disorder (ADHD) is a multifactorial disorder clinically characterized by inattentiveness, impulsivity and hyperactivity. The occurrence of this disorder is between 3 and 6% of the children population, with boys predomi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f213288df7321a0de84ae4dca4fded4b
https://pubmed.ncbi.nlm.nih.gov/17187001
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7
Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion
Autor: Peter O, Bauer, Vaclav, Matoska, Alena, Zumrova, Arpad, Boday, Hiroshi, Doi, Tatana, Marikova, Petr, Goetz
Publikováno v: Journal of applied genetics. 46(3)
We report on a family with spinocerebellar ataxia type 1 (SCA1), in which the age at onset and the severity of the disease do not correlate with the number of CAG repeat units. Although a marked anticipation was observed in the proband, it was not a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ae9e0f2b14bfd9859c5b792671ed2124
https://pubmed.ncbi.nlm.nih.gov/16110192
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8
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion
Autor: Oliver, Bartsch, Michaela, Nemecková, Eduard, Kocárek, Annett, Wagner, Alena, Puchmajerová, Maja, Poppe, Katrin, Ounap, Petr, Goetz
Publikováno v: American journal of medical genetics. Part A. (1)
DiGeorge anomaly/velocardiofacial syndrome (DG/VCFS) occurs with different deletion intervals on chromosomes 22q11, while the DiGeorge anomaly (with other findings) is seen in patients with deletions of 10p14. The clinical outcome with the common 22q
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c5e666bbf0e87395faa0e9ffe7e83c84
https://pubmed.ncbi.nlm.nih.gov/12548732
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9
Effects of alkylating agents on lymphocytes from controls and from patients with Fanconi's anemia. Studies of sister chromatid exchanges, chromosome aberrations, and kinetics of cell division
Autor: Petr Goetz, Božena Novotná, Naděžda I. Surkova
Publikováno v: Human genetics. 49(1)
The frequency of sister chromatid exchanges (SCE) and chromosome aberrations and the dynamics of cell division in peripheral blood lymphocytes of four patients with Fanconi's anemia were studied after in vitro exposure to alkylating agents TEPA and m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae14b0925cad3d21a2d65b87eecd0dae
https://pubmed.ncbi.nlm.nih.gov/89073
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