Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Inna, Soldatova"'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b28e8fef1e3d24657953362adda8cc29
https://doi.org/10.1038/s10038-018-0444-9
https://doi.org/10.1038/s10038-018-0444-9
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bf372a73cf0d7f351eccb159ccee3ea
https://doi.org/10.1016/j.medcle.2018.01.004
https://doi.org/10.1016/j.medcle.2018.01.004
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::333274b752d94c0e20d14acc01c3fb9b
https://doi.org/10.1016/j.medcli.2017.06.041
https://doi.org/10.1016/j.medcli.2017.06.041
Autor:
Marie Trkova, Pavel Seeman, Jana Lastuvkova, Dana Safka Brozkova, Radim Mazanec, Inna Soldatova, Martina Bittoova, Anna Uhrova Meszarosova, Martin Vyhnalek
Publikováno v:
Journal of Clinical Neuroscience. 59:337-339
Biallelic pathogenic variants in FA2H gene have been repeatedly described as a cause of hereditary spastic paraplegia (HSP) type35 (SPG35). Targeted massive parallel sequencing (MPS) of the HSP genes panel revealed a novel homozygous variant c.130C >
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e859ba6b570264f6fdc1cf8da358c20
https://doi.org/10.1016/j.jocn.2018.10.094
https://doi.org/10.1016/j.jocn.2018.10.094
Autor:
J. Horacek, M. Bittóova, J. Diblik, E. Linhartova, D. Stejskal, M. Sekowska, V. Becvarova, M. Koudova, Marie Trkova, Inna Soldatova
Publikováno v:
Reproductive BioMedicine Online. 39:e55-e56
Introduction Karyomapping based on genome - wide linkage analysis and using an unique combination of "SNPs (Single Nucleotide Polymorphism) of interest" in each chromosomal region enables to compare patterns carried by parents and other family member
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f23fd1ba0bbc520ab8340f28f795fcda
https://doi.org/10.1016/j.rbmo.2019.04.100
https://doi.org/10.1016/j.rbmo.2019.04.100
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
https://doi.org/10.1002/pd.2151
Autor:
Inna Soldatova, L. Pecnova, J. Míka, M Putzova, D. Stejskal, Krautová L, I. Borgulová, P Potuznikova, R. Kren
Publikováno v:
Europe PubMed Central
Background Many centers of assisted reproduction in the Czech Republic offer preimplantation genetic diagnosis with fluorescent in situ hybridization (FISH) to couples requiring preimplantation genetic diagnosis (PGD) of X-linked diseases. However, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a06a923a6e2d6ab535924cd656f314b
https://pubmed.ncbi.nlm.nih.gov/26435019
https://pubmed.ncbi.nlm.nih.gov/26435019
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
https://pubmed.ncbi.nlm.nih.gov/19012274
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
https://pubmed.ncbi.nlm.nih.gov/18378202
Autor:
M. Putzova, M. Brandejska, I. Borgulová, J. Míka, A. Langerová, M. Hejtmankova, P. Feldmár, D. Stejskal, Inna Soldatova, V. Krutilkova, R. Kren
Publikováno v:
Reproductive BioMedicine Online. 24:S57
Introduction: To investigate if chromosome complement as determined by analysis of a single blastomere from a day 3 embryo by array CGH, is indicative of blastocyst developmental potential. Method: 283 day 3 embryos from 45 PGS patients were included
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de31f3d57fb807191dbb460955b0d647
https://doi.org/10.1016/s1472-6483(12)60247-8
https://doi.org/10.1016/s1472-6483(12)60247-8