Jakub Trizuljak
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Explore the profile of Jakub Trizuljak including associated specialties, affiliations and a list of published articles.
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13
Citations
56
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Recent Articles
1.
Trizuljak J, Likavcova P, Stano Kozubik K, Vrzalova Z, Hynst J, Deissova T, et al.
Platelets
. 2024 Aug;
35(1):2388103.
PMID: 39212265
Inherited thrombocytopenias (ITs) encompass a group of rare disorders characterized by diminished platelet count. Recent advancements have unveiled various forms of IT, with inherited thrombocytopenia 2 (THC2) emerging as a...
2.
Stika J, Pesova M, Stano Kozubik K, Skalnikova M, Dostalova L, Loja T, et al.
Br J Haematol
. 2024 Aug;
205(6):2450-2458.
PMID: 39191490
The CYCS gene is highly evolutionarily conserved, with only a few pathogenic variants that cause thrombocytopenia-4 (THC4). Here, we report a novel CYCS variant NM_018947.6: c.59C>T [NP_061820.1:p.(Thr20Ile)] segregating with thrombocytopenia...
3.
Eid M, Trizuljak J, Taslerova R, Gryc M, Vlazny J, Vilmanova S, et al.
Mutagenesis
. 2024 May;
PMID: 38773787
No abstract available.
4.
Trizuljak J, Duben J, Blahakova I, Vrzalova Z, Stano Kozubik K, Stika J, et al.
Mol Syndromol
. 2023 Nov;
14(5):439-448.
PMID: 37908896
Introduction: In contrast with the well-known and described deletion of the 22q11 chromosome region responsible for DiGeorge syndrome, 22q12 deletions are much rarer. Only a few dozen cases have been...
5.
Skalnikova M, Stano Kozubik K, Trizuljak J, Vrzalova Z, Radova L, Reblova K, et al.
Int J Mol Sci
. 2022 Jan;
23(2).
PMID: 35055070
Bernard-Soulier syndrome (BSS) is a rare inherited disorder characterized by unusually large platelets, low platelet count, and prolonged bleeding time. BSS is usually inherited in an autosomal recessive (AR) mode...
6.
Trizuljak J, Petruchova T, Blahakova I, Vrzalova Z, Horinova V, Doubkova M, et al.
Mol Syndromol
. 2020 Jul;
11(2):73-82.
PMID: 32655338
Bloom syndrome is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early-onset cancer and...
7.
Trizuljak J, Sperr W, Nekvindova L, Elberink H, Gleixner K, Gorska A, et al.
Allergy
. 2020 Feb;
75(8):1927-1938.
PMID: 32108361
Background: In indolent systemic mastocytosis (ISM), several risk factors of disease progression have been identified. Previous studies, performed with limited patient numbers, have also shown that the clinical course in...
8.
Doubkova M, Trizuljak J, Vrzalova Z, Hrazdirova A, Blahakova I, Radova L, et al.
BMC Pulm Med
. 2019 Oct;
19(1):178.
PMID: 31619213
Background: Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diathesis, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes. Homozygous or compound...
9.
Doubkova M, Stano Kozubik K, Radova L, Pesova M, Trizuljak J, Pal K, et al.
Hum Genome Var
. 2019 Mar;
6:12.
PMID: 30854216
Different genes related to alveolar stability have been associated with familial interstitial pneumonia (FIP). Here, we report a novel, rare variant in a family with idiopathic interstitial pneumonia (IIP). We...
10.
Trizuljak J, Stano Kozubik K, Radova L, Pesova M, Pal K, Reblova K, et al.
Platelets
. 2018 Oct;
29(8):827-833.
PMID: 30332551
Mutations in the GP1BA gene have been associated with platelet-type von Willebrand disease and Bernard-Soulier syndrome. Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia...