Detalhe da pesquisa
1.
Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs.
Nucleic Acids Res
; 2024 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38426935
2.
LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.
Lipids Health Dis
; 23(1): 36, 2024 Feb 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38308247
3.
2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.
Eur Heart J
; 44(25): 2277-2291, 2023 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37130090
4.
Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study.
Lancet
; 399(10326): 719-728, 2022 02 19.
Artigo
Inglês
| MEDLINE | ID: mdl-35101175
5.
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
J Clin Immunol
; 43(8): 1974-1991, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37620742
6.
PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages.
Mol Biol Rep
; 50(6): 4975-4982, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-37086298
7.
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Genet Med
; 24(2): 293-306, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34906454
8.
Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites.
Cell Mol Life Sci
; 78(21-22): 6979-6993, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34596691
9.
Neutrophil and Granulocytic Myeloid-Derived Suppressor Cell-Mediated T Cell Suppression Significantly Contributes to Immune Dysregulation in Common Variable Immunodeficiency Disorders.
J Immunol
; 202(1): 93-104, 2019 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30487174
10.
Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation.
J Clin Immunol
; 40(3): 435-446, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31982983
11.
The association between vegetation size and surgical treatment on 6-month mortality in left-sided infective endocarditis.
Eur Heart J
; 40(27): 2243-2251, 2019 07 14.
Artigo
Inglês
| MEDLINE | ID: mdl-30977784
12.
Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition.
Int J Mol Sci
; 21(18)2020 Sep 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32911621
13.
Tangier disease in family with the phenotype of familial hypercholesterolemia.
Vnitr Lek
; 66(7): 443-446, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33380124
14.
Inherited C2-complement deficiency: variable clinical manifestation (case reports and review).
Vnitr Lek
; 66(2): 87-91, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32942894
15.
Fluorescent Capillary Electrophoresis Is Superior to Culture in Detecting Candida Species from Samples of Urinary Catheters and Ureteral Stents with Mono- or Polyfungal Biofilm Growth.
J Clin Microbiol
; 57(4)2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30674577
16.
Association between the timing of surgery for complicated, left-sided infective endocarditis and survival.
Am Heart J
; 210: 108-116, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30802708
17.
The Impact of the International Cooperation On Familial Hypercholesterolemia Screening and Treatment: Results from the ScreenPro FH Project.
Curr Atheroscler Rep
; 21(9): 36, 2019 06 22.
Artigo
Inglês
| MEDLINE | ID: mdl-31230174
18.
High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.
RNA Biol
; 16(10): 1364-1376, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31213135
19.
Impact of acceptor splice site NAGTAG motif on exon recognition.
Mol Biol Rep
; 46(3): 2877-2884, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-30840204
20.
Neutrophils Are Dysregulated in Patients with Hereditary Angioedema Types I and II in a Symptom-Free Period.
Mediators Inflamm
; 2019: 9515628, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31236065