Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Martina, Putzová"'
Autor:
Dana Thomasová, Michaela Zelinová, Malgorzata Libik, Jan Geryk, Pavel Votýpka, Silvie Rajnochová Bloudíčková, Karel Krejčí, Jana Reiterová, Eva Jančová, Jana Machová, Martina Kollárová, Ivan Rychík, Martin Havrda, Miroslava Horáčková, Martina Putzová, Roman Šafránek, Marek Kollár, Milan Macek
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
BackgroundGenetic focal segmental glomerulosclerosis (FSGS) is caused by pathogenic variants in a broad spectrum of genes that have a variable representation based on subjects' ethnicity and/or age. The most frequently mutated autosomal recessive gen
Externí odkaz:
https://doaj.org/article/479ea1a14e1744f48660a15eb5b738b1
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Martina Putzová, Jana Neupauerová, Pavel Seeman, Marcela Malíková, Irena Borgulová, Inna Soldatova, Simona Poisson Marková, Marie Trkova
Publikováno v:
Journal of Human Genetics. 63:803-810
Approximately 20 cases of genome-wide uniparental disomy or diploidy (GWUPD) as mosaicism have previously been reported. We present the case of an 11-year-old deaf girl with a paternal uniparental diploidy or isodisomy with a genome-wide loss of hete
Publikováno v:
Medicina Clínica (English Edition). 150:215-219
To present methodical approach of preimplantation genetic diagnosis (PGD) as an option for an unaffected pregnancy in reproductive-age couples who have a genetic risk of the X-linked dominant peripheral neuropathy Charcot-Marie-Tooth type 1 disease.W
Publikováno v:
Medicina Clínica. 150:215-219
Resumen Objetivo Presentar un enfoque metodologico del diagnostico genetico preimplantacional (DGP) como opcion para embarazos no afectados en parejas en edad reproductiva con riesgo genetico de neuropatia periferica dominante por enfermedad de Charc
Autor:
Martina, Putzová1,2 putzova@biopticka.cz, Marcel, Hasch1, Barbora, Gomolčáková1, Ivan, Šubrt3, Michal, Michal1
Publikováno v:
Actual Gynecology & Obstetrics / Aktuální Gynekologie a Porodnictví. 2017, Vol. 9, p10-13. 4p.
Autor:
Kateřina Doležalová, Dagmar Vávrová, Martina Putzová, David Stejskal, Pavel Seeman, Irena Smetanová, Marie Čermáková, Anna Uhrova Meszarosova, Christian Beetz
Publikováno v:
Journal of Human Genetics. 61:845-850
The SPAST gene has a major role in hereditary spastic paraplegias (HSPs). This is the first report mapping characteristics of the SPAST gene in a large cohort of Czech HSP patients. All 17 coding exons of the SPAST gene were Sanger sequenced in 327 p
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
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:
Publikováno v:
Czecho-Slovak Pathology & Forensic Medicine / Česko-Slovenská Patologie a Soudní Lékařství; 2017, Vol. 53 Issue 3, p139-139, 1p