Petr Kuglik
Overview
Explore the profile of Petr Kuglik including associated specialties, affiliations and a list of published articles.
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Articles
43
Citations
854
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Recent Articles
1.
Wayhelova M, Vallova V, Broz P, Mikulasova A, Smetana J, Dynkova Filkova H, et al.
Orphanet J Rare Dis
. 2024 Feb;
19(1):41.
PMID: 38321498
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 abilities and...
2.
Wayhelova M, Vallova V, Broz P, Mikulasova A, Machackova D, Dynkova Filkova H, et al.
Mol Med Rep
. 2023 Apr;
27(5).
PMID: 37052241
Pathogenic variants affecting the gene are responsible for the manifestation of extremely rare cancer‑predisposing Bloom syndrome. The present study reports on a case of an infant with a congenital hypotrophy,...
3.
Wayhelova M, Vallova V, Broz P, Mikulasova A, Loubalova D, Filkova H, et al.
J Hum Genet
. 2021 Nov;
67(4):209-214.
PMID: 34819662
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...
4.
Smetana J, Vallova V, Wayhelova M, Hladilkova E, Filkova H, Horinova V, et al.
Front Genet
. 2021 Nov;
12:750110.
PMID: 34777475
Alport syndrome with intellectual disability (ATS-ID, AMME complex; OMIM #300194) is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by hematuria, renal failure, hearing loss/deafness,...
5.
Wayhelova M, Ryzi M, Oppelt J, Hladilkova E, Vallova V, Krskova L, et al.
Neurogenetics
. 2020 Jun;
21(4):269-278.
PMID: 32564198
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....
6.
Sourada L, Kuglik P
Cas Lek Cesk
. 2020 May;
159(2):81-87.
PMID: 32434341
Aging is an extremely complex phenomenon that has many manifestations at the molecular, cellular, and whole-body levels, and in some form involves virtually all living beings. It is a process...
7.
Vymetalova L, Kucirkova T, Knopfova L, Pospisilova V, Kasko T, Lejdarova H, et al.
Neurochem Res
. 2019 Dec;
45(1):204-214.
PMID: 31828497
Neurodegenerative disorders present a broad group of neurological diseases and remain one of the greatest challenges and burdens to mankind. Maladies like amyotrophic lateral sclerosis, Alzheimer's disease, stroke or spinal...
8.
Wayhelova M, Smetana J, Vallova V, Hladilkova E, Filkova H, Hanakova M, et al.
BMC Med Genomics
. 2019 Jul;
12(1):111.
PMID: 31337399
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)....
9.
Wayhelova M, Oppelt J, Smetana J, Hladilkova E, Filkova H, Makaturova E, et al.
Mol Med Rep
. 2019 Jun;
20(1):505-512.
PMID: 31180560
De novo sequence variants, including truncating and splicing variants, in the additional sex‑combs like 3 gene (ASXL3) have been described as the cause of Bainbridge‑Ropers syndrome (BRS). This pathology is...
10.
Sedlarikova L, Bollova B, Radova L, Brozova L, Jarkovsky J, Almasi M, et al.
Hematol Oncol
. 2018 Aug;
36(5):786-791.
PMID: 30144133
Multiple myeloma is the second most common hematological malignancy characterized by focal lesions of malignant plasma cells in the bone marrow. These lesions contain subclones that directly influence survival of...