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1.
Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.
J Muscle Res Cell Motil
; 38(3-4): 291-302, 2017 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29101517
2.
High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections.
Mol Cell Probes
; 27(2): 103-8, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23142374
3.
Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
J Biol Chem
; 286(20): 17777-84, 2011 May 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-21454630
4.
Herpes simplex virus immediate-early protein ICP0 is targeted by SIAH-1 for proteasomal degradation.
J Virol
; 85(15): 7644-57, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21632771
5.
A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?
Neuropediatrics
; 43(3): 159-61, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22610664
6.
TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome.
J Negat Results Biomed
; 11: 9, 2012 Feb 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-22300218
7.
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
Hum Mol Genet
; 17(24): 3854-63, 2008 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-18775954
8.
Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.
Biochim Biophys Acta
; 1782(6): 385-90, 2008 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-18348873
9.
3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3.
J Mol Med (Berl)
; 85(7): 763-70, 2007 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-17356845
10.
Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy.
Front Physiol
; 9: 359, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29686627
11.
Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse.
Int J Cardiol Heart Vasc
; 10: 39-46, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-28616514
12.
Blood-based microRNA signatures differentiate various forms of cardiac hypertrophy.
Int J Cardiol
; 196: 115-22, 2015 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26086795
13.
Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.
PLoS One
; 9(8): e104742, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25116393
14.
Total serum transforming growth factor-ß1 is elevated in the entire spectrum of genetic aortic syndromes.
Clin Cardiol
; 37(11): 672-9, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25113270
15.
The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome.
Orphanet J Rare Dis
; 9: 203, 2014 Dec 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-25491897
16.
FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression.
Int J Cardiol
; 168(2): 953-9, 2013 Sep 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-23176764
17.
Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.
PLoS One
; 8(12): e81281, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-24349050
18.
Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches.
Eur J Hum Genet
; 24(1): e1-5, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26508578
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