Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Jana Drabova"'
Autor:
Jana Drábová
Publikováno v:
Paidagogos, Vol 2015, Iss 2 (2015)
Externí odkaz:
https://doaj.org/article/bb91cc81b2004662a66095e7d1381d41
Autor:
Pavel Tesner, Jana Drabova, Miroslav Stolfa, Martin Kudr, Martin Kyncl, Veronika Moslerova, Drahuse Novotna, Radka Kremlikova Pourova, Eduard Kocarek, Tereza Rasplickova, Zdenek Sedlacek, Marketa Vlckova
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-7 (2018)
Abstract Background With only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs) or isochromosomes. The patients share common but unspecific symptoms such as dev
Externí odkaz:
https://doaj.org/article/d251c1d45d1544abaf486394b2857005
Autor:
Anna Siskova, Jan Kral, Jana Drabova, Klara Cervena, Kristyna Tomasova, Jiri Jungwirth, Tomas Hucl, Pavel Kohout, Sandra Summerova, Ludmila Vodickova, Pavel Vodicka, Veronika Vymetalkova
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 14; Pages: 7656
A colorectal adenoma, an aberrantly growing tissue, arises from the intestinal epithelium and is considered as precursor of colorectal cancer (CRC). In this study, we investigated structural and numerical chromosomal aberrations in adenomas, hypothes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f336abadd1903f0d085cdf51ed109f07
Autor:
Michal Kroupa, Kristyna Tomasova, Katerina Saskova, Jana Drabova, Josef Horak, Ludmila Vodickova, Jachym Rosendorf, Vaclav Liska, Pavel Vodicka
Publikováno v:
Cancer Research. 82:760-760
The most common form of genomic instability in sporadic colorectal cancer (CRC) is chromosomal instability, a phenotype characterized by a high frequency of DNA copy number gain (CNG) and loss (CNL). Given the fundamental role of chromosomal instabil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15d2df71923cf84c982dd7c314087c9a
https://doi.org/10.1158/1538-7445.am2022-760
https://doi.org/10.1158/1538-7445.am2022-760
Autor:
Jana Paderova, Jana Drabova, Andrea Holubova, Marketa Vlckova, Marketa Havlovicova, Andrea Gregorova, Radka Pourova, Vera Romankova, Veronika Moslerova, Jan Geryk, Patricia Norambuena, Veronika Krulisova, Anna Krepelova, Milan Macek
Publikováno v:
European Journal of Medical Genetics. 61:315-321
Kabuki syndrome is mainly caused by dominant de-novo pathogenic variants in the KMT2D and KDM6A genes. The clinical features of this syndrome are highly variable, making the diagnosis of Kabuki-like phenotypes difficult, even for experienced clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c9edade7f30807c6ec163586eaf687f
https://doi.org/10.1016/j.ejmg.2018.01.005
https://doi.org/10.1016/j.ejmg.2018.01.005
Autor:
Zdenek Sedlacek, Jana Zidovska, Jana Drabova, Miroslava Hancarova, Marketa Vlckova, Jana Lastuvkova, Jan Vseticka, Radka Kremlikova Pourova, Pavel Tesner, Eduard Kocarek, Anna Klimova
Publikováno v:
Cytogenetic and Genome Research. 154:187-195
The prenatal finding of a small supernumerary marker chromosome (sSMC) is a challenge for genetic counseling. Our analytic algorithm is based on sSMC frequencies and multicolor FISH to accelerate the procedure. The chromosomal origin, size, and degre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5cbbe82eaae9bca38cc2ed219c94aec
https://doi.org/10.1159/000488790
https://doi.org/10.1159/000488790
Autor:
Marcela Malíková, Alena Puchmajerová, Jan Geryk, Marketa Havlovicova, Sarka Vejvalkova, Anna Křepelová, Marketa Vlckova, Radka Kremlikova Pourova, N. Ptáková, Aleš Maver, M. Šenkeříková, Martina Simandlova, Milan Macek, Jana Drabova, A. Holubová, Jana Paděrová
Publikováno v:
Clinical Genetics. 90:230-237
Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes. Initially, a representative cohort of 14 Czech cases with clinical features suggestive of KS was analyzed by experienced clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::edac65830553e8ba1642902f75a322fe
https://doi.org/10.1111/cge.12754
https://doi.org/10.1111/cge.12754
Autor:
Renata Cibochova, Pavel Seeman, Julia Stellmachova, Dana Safka Brozkova, Anna Uhrova Meszarosova, Jana Drabova, Jan Jencik
Publikováno v:
Neuroscience Letters. 721:134800
Hereditary spastic paraplegia (HSP or SPG) is a group of rare upper motor neuron diseases. As some ethnically-specific, disease-causing homozygous variants were described in the Czech Roma population, we hypotesised that some prevalent HSP-causing va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f23172bf4287ffe99135d5626d5e2aa9
https://doi.org/10.1016/j.neulet.2020.134800
https://doi.org/10.1016/j.neulet.2020.134800
Autor:
Martin Horacek, Radka Kremlikova Pourova, Tereza Jancuskova, Eva Seemanova, Zdenek Sedlacek, Sona Pekova, Drahuse Novotna, Jana Drabova, Miroslava Hancarova
Publikováno v:
American Journal of Medical Genetics Part A. 167:837-841
We identified a de novo deletion of 14q11.2 in a Czech patient with developmental delay, mild autistic features, macrosomy, macrocephaly, orthognathic deformities, and dysmorphic facial features. The clinical follow-up of the patient lasting 14 years
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3552dd6fcdecc259df1d8fcf42860382
https://doi.org/10.1002/ajmg.a.36957
https://doi.org/10.1002/ajmg.a.36957
Autor:
Zdenek Sedlacek, Drahuse Novotna, Zuzana Slamova, Zuzana Zemanova, Mana M. Mehrjouy, Tatana Marikova, Lusine Nazaryan-Petersen, Zdenka Vlckova, Miroslava Hancarova, Jana Drabova, Mads Bak, Niels Tommerup, Marketa Vlckova
Publikováno v:
Human mutation. 39(5)
Analyses at nucleotide resolution reveal unexpected complexity of seemingly simple and balanced chromosomal rearrangements. Chromothripsis is a rare complex aberration involving local shattering of one or more chromosomes and reassembly of the result
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68a45785dd3adf1d8f966606d4b1b721
https://pubmed.ncbi.nlm.nih.gov/29405539
https://pubmed.ncbi.nlm.nih.gov/29405539