Výsledky vyhledávání - "Vladimíra Vallová"

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development

Autor: Petr Broz, Marketa Wayhelova, Klara Drabova, Dominika Loubalova, Vladimíra Vallová, Renata Gaillyová, Jan Smetana, Hana Filková, Petr Kuglík, Aneta Mikulasova

Publikováno v: Journal of human genetics. 67(4)

Pathogenic sequence variant in the GNAI1 gene were recently introduced as a cause of novel syndrome with a manifestation of variable developmental delay and autistic features. In our study, we report a case of monozygotic twins with severe intellectu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d684da766aa533b8e9c7ccf0e8bc8e2c
https://pubmed.ncbi.nlm.nih.gov/34819662

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Akademický článek

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders

Autor: Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Jan Smetana, Hana Dynkova Filkova, Dominika Machackova, Kristina Handzusova, Renata Gaillyova, Petr Kuglik

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)

Abstract Background Neurodevelopmental disorders (NDDs) and/or associated multiple congenital abnormalities (MCAs) represent a genetically heterogeneous group of conditions with an adverse prognosis for the quality of intellectual and social abilitie

Externí odkaz: https://doaj.org/article/46268ac87d8b4810be2aceadfdb01208

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Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy

Autor: Marcela Vilémová, Jan Oppelt, Vladimíra Vallová, Hana Polackova, Michal Ryzí, Petr Kuglík, Lenka Krskova, Eva Hladílková, Renata Gaillyová, Marketa Wayhelova

Publikováno v: Neurogenetics. 21(4)

Pathogenic sequence variants in the IQ motif– and Sec7 domain–containing protein 2 (IQSEC2) gene have been confirmed as causative in the aetiopathogenesis of neurodevelopmental disorders (intellectual disability, autism) and epilepsy. We report o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14ee791b30ff97a98331c9082a3c46a1
https://pubmed.ncbi.nlm.nih.gov/32564198

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The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

Autor: Marketa Wayhelova, Petr Kuglík, Renata Gaillyová, Jan Smetana, Eva Hladílková, Vladimíra Vallová, Marta Hanáková, Marcela Vilémová, Petra Nikolova, Barbora Gromesova, Hana Filková

Publikováno v: BMC Medical Genomics
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-11 (2019)

Background Chromosomal microarray analysis has been shown to be a valuable and cost effective assay for elucidating copy number variants (CNVs) in children with intellectual disability and developmental delay (ID/DD). Methods In our study, we perform

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e63081421475d00914520bdd2deb4dc0
http://europepmc.org/articles/PMC6651926

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Chromosome Banding Analysis of Peripheral Blood Lymphocytes Stimulated with IL-2 and CpG Oligonucleotide DSP30 in Patients with Chronic Lymphocytic Leukemia

Autor: Petra Šmuhařová, Eva Divíšková, Vladimíra Vallová, Lenka Tomášiková, Veronika Némethová, Alexandra Oltová, Michael Doubek, Jiří Mayer, Gabriela Vaňková, Šárka Pospíšilová, Kristina Štěpanovská, Karla Plevová, Petr Kuglík

Publikováno v: Europe PubMed Central

Background Chromosomal aberrations play an important role as prognostic factors in chronic lymphocytic leukemia (CLL). These aberrations are mostly detected by fluorescent in situ hybridization (FISH), as chromosomal banding analysis has been scarce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d69860962814d1eb32d3568751e6a366
https://doi.org/10.14735/amko2013263

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Detection of oncogenic mutations in cervical carcinoma using method High Resolution Melting (HRM)

Autor: Vladimíra Vallová, Lucie Mouková, Petr Kuglík, Hana Filková, D Blazkova, Jan Smetana, Aneta Mikulasova, Marketa Wayhelova

Publikováno v: Neoplasma. 63(5)

Oncogenic mutations in proto-oncogenes and tumor suppressor genes represent one of key events in cancerogenesis. In this study, we analysed mutation status in PIK3CA, KRAS and EGFR proto-oncogenes and TP53 tumor suppressor gene in a cohort of twenty-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3519c80dc0750cb9f76268f0819e2ed6
https://pubmed.ncbi.nlm.nih.gov/27468883

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[First experiences with preimplantation genetic screening of chromosomal aberrations using oligonucleotide-based array comparative genomic hybridization]

Autor: Petr, Kuglík, Jan, Smetana, Darja, Němcová, Vladimíra, Vallová, Aneta, Mikulášová, Renata, Gaillyová, Vít, Hubinka, Marek, Koudelka

Publikováno v: Casopis lekaru ceskych. 154(3)

Preimplantation genetic diagnosis (PGD) is a complex approach for detecting genetic abnormalities in early-stage embryos using genetic or molecular cytogenetic methods. Recently, single cell genomic methods based on DNA microarrays have been used for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::87f38dd908447303821f3f93e181d368
https://pubmed.ncbi.nlm.nih.gov/26311028

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Genome-Wide Screening of Cytogenetic Abnormalities in Multiple Myeloma Patients Using Array-CGH Technique: A Czech Multicenter Experience

Autor: Martina Almáši, Pavel Nemec, Jan Smetana, Zdenek Adam, Romana Zaoralová, Jan Frohlich, Lenka Zahradová, Henrieta Grešliková, Petr Kuglík, Ludek Pour, Aneta Mikulasova, Vladimíra Vallová, Viera Sandecká, Renata Kupská, Roman Hájek

Publikováno v: BioMed Research International, Vol 2014 (2014)
BioMed Research International

Characteristic recurrent copy number aberrations (CNAs) play a key role in multiple myeloma (MM) pathogenesis and have important prognostic significance for MM patients. Array-based comparative genomic hybridization (aCGH) provides a powerful tool fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c57957263efc7a626622f0021049b706
https://doaj.org/article/06135be4e7bc4c8384d0e33053c482cd

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Genome Wide Profiling Of Chromosomal Abnormalities In 37 Patients With Monoclonal Gammopathy Of Undetermined Significance (MGUS)

Autor: Michaela Purgertova, Jan Smetana, Petr Kuglík, Vladimíra Vallová, Roman Hájek, Aneta Mikulasova, Ludek Pour, Miroslav Penka, Lucie Rihova, Viera Sandecká, Henrieta Grešliková, Renata Kupská

Publikováno v: ResearcherID

Introduction The incidence of clonal DNA copy number alterations (CNAs) in plasma cells (PCs) is considered as one of the most important and independent prognostic factors in patients with multiple myeloma (MM). Also in the premalignancy MGUS, there

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05eed6d5cdbbf74d0b5429f500089979
https://doi.org/10.1182/blood.v122.21.1874.1874

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