Detalhe da pesquisa
1.
SAF-A Regulates Interphase Chromosome Structure through Oligomerization with Chromatin-Associated RNAs.
Cell
; 169(7): 1214-1227.e18, 2017 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28622508
2.
Selection of Novel Reference Genes by RNA-Seq and Their Evaluation for Normalising Real-Time qPCR Expression Data of Anthocyanin-Related Genes in Lettuce and Wild Relatives.
Int J Mol Sci
; 24(3)2023 Feb 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36769376
3.
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.
Int J Mol Sci
; 23(17)2022 Aug 25.
Artigo
Inglês
| MEDLINE | ID: mdl-36077045
4.
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
Int J Mol Sci
; 21(3)2020 Feb 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32033219
5.
More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.
Int J Mol Sci
; 20(24)2019 Dec 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31817290
6.
Cornelia de Lange Spectrum.
An Pediatr (Engl Ed)
; 100(5): 352-362, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38735830
7.
Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome.
Cureus
; 16(4): e57378, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38694681
8.
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.
Mol Genet Metab
; 108(4): 232-40, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23465862
9.
Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder.
J Clin Med
; 12(12)2023 Jun 14.
Artigo
Inglês
| MEDLINE | ID: mdl-37373745
10.
Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.
J Lipid Res
; 53(10): 2046-2056, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22847177
11.
Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.
BMC Med Genet
; 13: 43, 2012 Jun 07.
Artigo
Inglês
| MEDLINE | ID: mdl-22676896
12.
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Mol Biol Rep
; 39(4): 4777-85, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21952825
13.
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.
J Clin Res Pediatr Endocrinol
; 2022 Dec 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36482071
14.
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.
Int J Cardiovasc Imaging
; 38(11): 2291-2302, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-36434327
15.
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
Front Genet
; 13: 993064, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36246631
16.
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
Genes (Basel)
; 13(8)2022 08 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36011323
17.
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Sci Rep
; 11(1): 15459, 2021 07 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34326454
18.
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
Am J Med Genet A
; 152A(4): 924-9, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20358602
19.
Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.
J Inherit Metab Dis
; 33(4): 405-10, 2010 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-20532825
20.
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Hum Mutat
; 30(3): E520-9, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19177531