Detalhe da pesquisa
1.
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
Hum Mol Genet
; 32(17): 2681-2692, 2023 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37364051
2.
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Genome Res
; 27(8): 1323-1335, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28630177
3.
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.
J Inherit Metab Dis
; 43(6): 1186-1198, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32743799
4.
Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalon.
J Anat
; 228(3): 452-63, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26612825
5.
Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase-deficient mice.
J Clin Invest
; 130(3): 1446-1452, 2020 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794432
6.
Aberrant methylation of Pax3 gene and neural tube defects in association with exposure to polycyclic aromatic hydrocarbons.
Clin Epigenetics
; 11(1): 13, 2019 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30665459
7.
Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.
Birth Defects Res
; 110(5): 443-455, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29316344
8.
Partitioning of One-Carbon Units in Folate and Methionine Metabolism Is Essential for Neural Tube Closure.
Cell Rep
; 21(7): 1795-1808, 2017 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29141214