Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Marie Trkova"'
Autor:
Jan Zuna, Lenka Hovorkova, Justina Krotka, Amelie Koehrmann, Michela Bardini, Lucie Winkowska, Eva Fronkova, Julia Alten, Rolf Koehler, Cornelia Eckert, Lisa Brizzolara, Marie Trkova, Jan Stuchly, Martin Zimmermann, Paola De Lorenzo, Maria Grazia Valsecchi, Valentino Conter, Jan Stary, Martin Schrappe, Andrea Biondi, Jan Trka, Marketa Zaliova, Giovanni Cazzaniga, Gunnar Cario
Publikováno v:
Leukemia. 36:2793-2801
Recently, we defined “CML-like” subtype of BCR::ABL1-positive acute lymphoblastic leukemia (ALL), resembling lymphoid blast crisis of chronic myeloid leukemia (CML). Here we retrospectively analyzed prognostic relevance of minimal residual diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a4db14b9337423b5c87a99671e0c9e5
https://doi.org/10.1038/s41375-022-01668-0
https://doi.org/10.1038/s41375-022-01668-0
Autor:
Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Staffova, Vera Becvarova, Marie Trkova, Katerina Adamova, Alena Santava, Vaclava Curtisova, Marian Hajduch, Martin Prochazka
Publikováno v:
PeerJ, Vol 7, p e7979 (2019)
Background Autism spectrum disorders (ASD) and intellectual disabilities (ID) are heterogeneous and complex developmental diseases with significant genetic backgrounds and overlaps of genetic susceptibility loci. Copy number variants (CNVs) are known
Externí odkaz:
https://doaj.org/article/53b88db70a184c60b74f990519ae0e3b
Autor:
Pavlina Capkova, Josef Srovnal, Zuzana Capkova, Katerina Staffova, Vera Becvarova, Marie Trkova, Katerina Adamova, Alena Santava, Vaclava Curtisova, Marian Hajduch, Martin Prochazka
Publikováno v:
PeerJ, Vol 6, p e6183 (2019)
Background Autism spectrum disorder (ASD) is a complex heterogeneous developmental disease with a significant genetic background that is frequently caused by rare copy number variants (CNVs). Microarray-based whole-genome approaches for CNV detection
Externí odkaz:
https://doaj.org/article/7c491a56a7504a0fa1f5977b5c6a5216
Autor:
Pavlina Skalicka, Jana Jedlickova, Ales Horinek, Marie Trkova, Alice E. Davidson, Stephen J. Tuft, Lubica Dudakova, Petra Liskova
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 17; Pages: 5166
We report the phenotype of a 15-year-old female patient with anterior segment dysgenesis (ASD) caused by a novel heterozygous loss-of-function FOXC1 variant. The proband underwent an ophthalmic examination as well as a molecular genetic investigation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f4ff37cd37b9dd65fd0129272f25a81
Autor:
Linda M. Reis, Mohit Maheshwari, Jenina Capasso, Huban Atilla, Lubica Dudakova, Samuel Thompson, Lia Zitano, Guillermo Lay-Son, R. Brian Lowry, Jennifer Black, Joseph Lee, Ann Shue, Radka Kremlikova Pourova, Manuela Vaneckova, Pavlina Skalicka, Jana Jedlickova, Marie Trkova, Bradley Williams, Gabriele Richard, Kristine Bachman, Andrea H. Seeley, Deborah Costakos, Thomas M Glaser, Alex V. Levin, Petra Liskova, Jeffrey C. Murray, Elena V. Semina
Publikováno v:
Journal of medical genetics.
BackgroundAxenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with distinct phenotypes, but our understanding is incomplete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bffb4e835d7523c47cd124196049cf90
https://pubmed.ncbi.nlm.nih.gov/35882526
https://pubmed.ncbi.nlm.nih.gov/35882526
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
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:
Viktor Stranecky, Lubica Dudakova, Olga Ulmanová, Eva Hlavova, Petra Liskova, Marie Trkova, Andrea L Vincent
Publikováno v:
Molecular Biology Reports. 44:435-440
A bilaterally blind woman, with a three generation family history of autosomal dominant congenital cataracts, variably associated with iris colobomata and microcornea, sought preconception genetic consultation. Whole-exome sequencing was performed in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::770132d051566fc88f42756c62df0643
https://doi.org/10.1007/s11033-017-4121-4
https://doi.org/10.1007/s11033-017-4121-4
Autor:
Katerina Adamova, Katerina Staffova, Pavlina Capkova, Vera Becvarova, Josef Srovnal, Martin Prochazka, Alena Santava, Marie Trkova, Marian Hajduch, Zuzana Capkova, Vaclava Curtisova
Publikováno v:
PeerJ, Vol 6, p e6183 (2019)
PeerJ
PeerJ
Background Autism spectrum disorder (ASD) is a complex heterogeneous developmental disease with a significant genetic background that is frequently caused by rare copy number variants (CNVs). Microarray-based whole-genome approaches for CNV detection
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68c541016fc2ff46285cbaf74c2af469
https://peerj.com/articles/6183.pdf
https://peerj.com/articles/6183.pdf
Autor:
Dagmar Raskova, Martin Hynek, Lubica Dudakova, Martin Hlozanek, Andrea L Vincent, Vera Becvarova, Petra Liskova, Marie Trkova
Publikováno v:
American Journal of Medical Genetics Part A. 170:1843-1848
We observed bilateral cataracts on second trimester ultrasound, in two consecutive pregnancies, with no other structural defects detected. The parents were unrelated and had no family history for the disease. The first pregnancy was terminated in wee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8ea4f92d432b89f5588fe2fab99c6e0
https://doi.org/10.1002/ajmg.a.37685
https://doi.org/10.1002/ajmg.a.37685