Detalhe da pesquisa
1.
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
PLoS Genet
; 16(11): e1009106, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33151932
2.
What is new about the genetic background of Hirschsprung disease?
Clin Genet
; 97(1): 114-124, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31355911
3.
Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease.
Int J Mol Sci
; 21(15)2020 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32748823
4.
ChIP-Seq-Based Approach in Mouse Enteric Precursor Cells Reveals New Potential Genes with a Role in Enteric Nervous System Development and Hirschsprung Disease.
Int J Mol Sci
; 21(23)2020 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33260622
5.
Epigenetic Mechanisms in Hirschsprung Disease.
Int J Mol Sci
; 20(13)2019 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31247956
6.
Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system.
Genet Med
; 16(9): 703-10, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24577265
7.
RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer.
Orphanet J Rare Dis
; 16(1): 4, 2021 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33407723
8.
Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development.
Clin Epigenetics
; 13(1): 51, 2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33750457
9.
Influencers on Thyroid Cancer Onset: Molecular Genetic Basis.
Genes (Basel)
; 10(11)2019 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31717449
10.
Dnmt3b knock-down in enteric precursors reveals a possible mechanism by which this de novo methyltransferase is involved in the enteric nervous system development and the onset of Hirschsprung disease.
Oncotarget
; 8(63): 106443-106453, 2017 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290961
11.
Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease.
Sci Rep
; 7(1): 6221, 2017 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28740121
12.
Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease.
Sci Rep
; 6: 21160, 2016 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26879676
13.
Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas.
BMC Med Genomics
; 8: 83, 2015 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26690675
14.
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.
Sci Rep
; 5: 16473, 2015 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26559152
15.
Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients.
PLoS One
; 8(1): e54800, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23372769
16.
Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients.
PLoS One
; 7(5): e36524, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22574178
17.
Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.
Orphanet J Rare Dis
; 7: 103, 2012 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23270508
18.
Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease.
J Mol Med (Berl)
; 89(5): 471-80, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21206993
19.
Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.
PLoS One
; 6(8): e23475, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21858136
20.
S-Nitrosylation of the epidermal growth factor receptor: a regulatory mechanism of receptor tyrosine kinase activity.
Free Radic Biol Med
; 46(4): 471-9, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19056486