Detalhe da pesquisa
1.
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
Neth Heart J
; 31(7-8): 315-323, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37505369
2.
DTYMK is essential for genome integrity and neuronal survival.
Acta Neuropathol
; 143(2): 245-262, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918187
3.
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.
Genet Med
; 23(11): 2186-2193, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34194005
4.
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Hum Mutat
; 41(6): 1091-1111, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112656
5.
Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices.
J Med Genet
; 54(10): 693-697, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28668821
6.
De novo mtDNA point mutations are common and have a low recurrence risk.
J Med Genet
; 54(2): 73-83, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27450679
7.
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.
J Pediatr
; 182: 371-374.e2, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28081892
8.
PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.
Hum Reprod
; 32(3): 698-703, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28122886
9.
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Circ Genom Precis Med
; 17(2): e004416, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38516780
10.
[Couples with risk of a child with a mitochondrial disease: wat are the reproductive options?] / Paren met risico op een kind met een mitochondriële ziekte.
Ned Tijdschr Geneeskd
; 1672023 05 10.
Artigo
em Holandês
| MEDLINE | ID: mdl-37163412
11.
Mitochondrial Cardiomyopathy: Distinctive Cardiac Phenotype Detected with Cardiovascular MRI.
Radiol Cardiothorac Imaging
; 5(2): e230014, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37124643
12.
Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy.
Circ Genom Precis Med
; 16(2): e003788, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36971006
13.
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Mol Genet Genomic Med
; 9(2): e1595, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432785
14.
Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.
Neuromuscul Disord
; 31(9): 859-864, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34419324
15.
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.
Eur J Hum Genet
; 29(12): 1789-1795, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34426662
16.
Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations.
Eur J Hum Genet
; 28(7): 956-962, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32203199
17.
Identification of epigenetically silenced genes in tumor endothelial cells.
Cancer Res
; 67(9): 4138-48, 2007 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17483324
18.
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.
Neuromuscul Disord
; 29(9): 693-697, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31488384
19.
Dual targeting of epigenetic therapy in cancer.
Biochim Biophys Acta
; 1775(1): 76-91, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16930846
20.
Epigenetic regulation of tumor endothelial cell anergy: silencing of intercellular adhesion molecule-1 by histone modifications.
Cancer Res
; 66(22): 10770-7, 2006 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17108113