Detalhe da pesquisa
1.
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.
BMC Cardiovasc Disord
; 24(1): 1, 2024 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38166572
2.
A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.
BMC Musculoskelet Disord
; 25(1): 241, 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38539162
3.
Role of non-coding variants in cardiovascular disease.
J Cell Mol Med
; 27(12): 1621-1636, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183561
4.
Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.
Lab Med
; 55(1): 62-70, 2024 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246508
5.
Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.
Sci Rep
; 14(1): 5313, 2024 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38438525
6.
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy.
BMC Med Genomics
; 16(1): 334, 2023 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129817
7.
Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm.
Lab Med
; 2023 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38113391
8.
A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to wholeexome sequencing.
BMC Med Genomics
; 15(1): 234, 2022 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36344977
9.
Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.
Lab Med
; 53(6): 640-650, 2022 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35686496
10.
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.
Eur J Med Res
; 27(1): 286, 2022 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36496429
11.
A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease.
J Cardiovasc Thorac Res
; 11(4): 287-299, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31824610