Detalhe da pesquisa
1.
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
em Inglês
| MEDLINE | ID: mdl-31729179
2.
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Hum Mol Genet
; 25(18): 4062-4079, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27466185
3.
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
em Inglês
| MEDLINE | ID: mdl-30194816
4.
Mutations in ANTXR1 cause GAPO syndrome.
Am J Hum Genet
; 92(5): 792-9, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23602711
5.
Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022.
Sci Rep
; 13(1): 6156, 2023 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37061534
6.
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.
Genes (Basel)
; 12(5)2021 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33946386
7.
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
em Inglês
| MEDLINE | ID: mdl-32533651
8.
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
J Clin Invest
; 131(5)2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33645542
9.
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
em Inglês
| MEDLINE | ID: mdl-32657043
10.
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
J Clin Med
; 9(4)2020 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32235386
11.
Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 163(4): 309-317, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275597
12.
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.
BMC Genomics
; 9: 38, 2008 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-18221507
13.
Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.
Pharmacogenomics
; 17(13): 1405-14, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27296017
14.
Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.
Circ Cardiovasc Genet
; 6(6): 543-51, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24114807