Výsledky vyhledávání - "Katerina Adamova"

Akademický článek

Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms

Publikováno v: Biomedical Papers, Vol 166, Iss 1, Pp 63-67 (2022)

Aims. Turner syndrome is the only chromosome monosomy that is postnatally compatible with life. The reported incidence of TS is 1 in 2500 liveborn girls. The phenotype of these girls is highly variable, with cardiac abnormalities being life-threateni

Externí odkaz: https://doaj.org/article/25b523ce827d4ec6b9611619f2e11f93

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Akademický článek

Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants

Autor: Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Adamova, Martin Prochazka, Marian Hajduch

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)

Abstract Background Recent studies suggest that duplication of the 9p24.3 chromosomal locus, which includes the DOCK8 and KANK1 genes, is associated with autism spectrum disorders (ASD), intellectual disability/developmental delay (ID/DD), learning p

Externí odkaz: https://doaj.org/article/c39f0340496b406a9ef17015c48721c8

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Akademický článek

Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients

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

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Akademický článek

MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism

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

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Karyotyping of Lymphocytes and Epithelial Cells of Distinct Embryonic Origin Does Not Help to Predict the Turner Syndrome Features

Autor: Jan Pavlicek, Ondrej Soucek, Radek Vrtel, Eva Klaskova, Vaclav Hana, Veronika Stara, Katerina Adamova, Tomas Fürst, Vaclav Hana Jr., Sabina Kapralova, Martin Prochazka, Marta Snajderova, Hana Tomaskova, Zbynek Tüdös, Dita Vrbicka, Petr Vrtel, Jirina Zapletalova, Zdenek Tauber, Jan Lebl

Publikováno v: Hormone research in paediatrics. 95(5)

Background: In Turner syndrome (TS), fluorescent in situ hybridization (FISH) karyotyping offers an alternative to classical karyotyping. Objective: We tested the added value of FISH karyotyping from lymphocytes (mesodermal origin), buccal cells (ect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::495e752b041a753a0cff256c2c467d66
https://pubmed.ncbi.nlm.nih.gov/35970147

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The contribution of X-chromosome genomic imprinting to the bicuspid aortic valve and aortic coarctation prevalence in women with Turner syndrome

Autor: Vaclav Hana, Jan Lebl, Ondrej Soucek, Martin Prochazka, Eva Klásková, Katerina Adamova, Jan Pavlíček, D Vrbická, Marta Snajderova, P Vrtel, Radek Vrtel, J. Zapletalova, Veronika Stará

Publikováno v: European Heart Journal. 41

Introduction Turner syndrome (TS) is caused by the absence or structural abnormality of X chromosome. Compared with the general population, the prevalence of congenital heart defects is significantly higher in women with TS, especially with 45,X kary

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fa19d82ccd5346ea2b090f6e4550c9fe
https://doi.org/10.1093/ehjci/ehaa946.2166

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Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies

Autor: Zuzana Capkova, Jirina Zapletalova, Pavlina Capkova, Katerina Adamova, Peter Rohon

Publikováno v: PeerJ, Vol 8, p e10236 (2020)
PeerJ

Background SHOX mutations have previously been described as causes of Léri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and idiopathic short stature. The loss of X chromosome—Turner syndrome or mosaic 45,X/46,XX or 46,XY—also

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66aaacac55a0add161b725078e38b1c6
https://peerj.com/articles/10236.pdf

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Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms

Publikováno v: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia. 166(1)

Aims Turner syndrome is the only chromosome monosomy that is postnatally compatible with life. The reported incidence of TS is 1 in 2500 liveborn girls. The phenotype of these girls is highly variable, with cardiac abnormalities being life-threatenin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::277256da8e215c60fecd5fcc470f67f5
https://pubmed.ncbi.nlm.nih.gov/33463629

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P2244Anomalies in women of the aortic arch in Turner syndrome as an important risk factor for premature morbidity and mortality

Autor: Katerina Adamova, Zbyněk Tüdös, J. Zapletalova, Eva Klásková, Sabina Kaprálová

Publikováno v: European Heart Journal. 40

Introduction Turner syndrome (TS) represents the most common chromosomal disorder in women being, caused by the absence or structural abnormality of X chromosome. Congenital heart defects affect up to 50% of females with TS.Prevalence of coarctation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f069e95a641e2c3a981905c8ed6c301e
https://doi.org/10.1093/eurheartj/ehz748.0722

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MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68c541016fc2ff46285cbaf74c2af469
https://peerj.com/articles/6183.pdf

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