Detalhe da pesquisa
1.
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.
Int J Legal Med
; 137(6): 1787-1801, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37178278
2.
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
Hum Mutat
; 43(12): 1824-1828, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35819173
3.
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
Int J Mol Sci
; 22(13)2021 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34281165
4.
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
Am J Med Genet A
; 182(1): 219-223, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31729179
5.
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
Am J Med Genet A
; 176(11): 2430-2434, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30194816
6.
Ablation for long QT syndrome: local or global repolarization effects?
Europace
; 25(7)2023 07 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37428887
7.
Pregnancy in women with dilated cardiomyopathy genetic variants.
Rev Esp Cardiol (Engl Ed)
; 2024 Apr 18.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-38641168
8.
High positive predictive value of PAPP-A for acute coronary syndrome diagnosis in heparin-naïve patients.
J Thromb Thrombolysis
; 34(1): 99-105, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22395770
9.
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
Acta Ophthalmol
; 99(1): 61-68, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-32533651
10.
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.
ESC Heart Fail
; 7(5): 2534-2543, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32657043
11.
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
J Clin Med
; 9(4)2020 Mar 29.
Artigo
Inglês
| MEDLINE | ID: mdl-32235386
12.
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.
Front Physiol
; 8: 400, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28659821
13.
Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.
Front Physiol
; 8: 730, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28974934
14.
QF-PCR examination of parental and meiotic origin of trisomy 21 in Central and Eastern Europe.
J Histochem Cytochem
; 53(3): 371-3, 2005 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-15750023
15.
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
J Cyst Fibros
; 12(5): 532-7, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23276700
16.
Influence of concomitant heparin administration on pregnancy-associated plasma protein-A levels in acute coronary syndrome with ST segment elevation.
Arch Med Sci
; 7(6): 977-83, 2011 Dec 31.
Artigo
Inglês
| MEDLINE | ID: mdl-22328880
17.
Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3.
Am J Med Genet A
; 137(1): 41-6, 2005 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-16007628
18.
Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16.
Blood
; 100(9): 3229-32, 2002 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-12384421
19.
Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.
Am J Hum Genet
; 70(4): 1015-22, 2002 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-11857108
20.
Association of human aging with a functional variant of klotho.
Proc Natl Acad Sci U S A
; 99(2): 856-61, 2002 Jan 22.
Artigo
Inglês
| MEDLINE | ID: mdl-11792841