Detalhe da pesquisa
1.
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
PLoS Genet;
17(8): e1009698, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34358225
2.
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.
Int J Mol Sci;
22(22)2021 Nov 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34830235
3.
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Hum Mutat;
41(11): 1906-1917, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32939943
4.
Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes.
Dev Biol;
416(1): 255-265, 2016 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27266404
5.
Do RET somatic mutations play a role in Hirschsprung disease?
Genet Med;
20(11): 1477-1478, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29493586