Detalhe da pesquisa
1.
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Brain
; 146(8): 3347-3363, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869767
2.
A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling.
BMC Pediatr
; 23(1): 104, 2023 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36870983
3.
[Analysis of the characteristics of SPTB gene variants among 16 children with Hereditary spherocytosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(3): 269-275, 2023 Mar 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36854399
4.
[Standards for the interpretation of constitutional copy number gain: Recommendation from the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resource (ClinGen)].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(1): 1-10, 2022 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-34964957
5.
CNV profiles of Chinese pediatric patients with developmental disorders.
Genet Med
; 23(4): 669-678, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33402738
6.
The effect of folic acid deficiency on Mest/Peg1 in neural tube defects.
Int J Neurosci
; 131(5): 468-477, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32241207
7.
The effect of folic acid deficiency on FGF pathway via Brachyury regulation in neural tube defects.
FASEB J
; 33(4): 4688-4702, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30592646
8.
Association between STAT4 polymorphisms and the risk of juvenile idiopathic arthritis in Han Chinese populations.
Clin Exp Rheumatol
; 37(2): 333-337, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30620272
9.
Quantitative Measurement of PARD3 Copy Number Variations in Human Neural Tube Defects.
Cell Mol Neurobiol
; 38(3): 605-614, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28623428
10.
Folate deficiency disturbs hsa-let-7 g level through methylation regulation in neural tube defects.
J Cell Mol Med
; 21(12): 3244-3253, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28631291
11.
Cumulative Risk Impact of RET, SEMA3, and NRG1 Polymorphisms Associated With Hirschsprung Disease in Han Chinese.
J Pediatr Gastroenterol Nutr
; 64(3): 385-390, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27203398
12.
Determining the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and genomic DNA methylation level: A meta-analysis.
Birth Defects Res A Clin Mol Teratol
; 106(8): 667-74, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27173682
13.
DNA methylation aberrations rather than polymorphisms of FZD3 gene increase the risk of spina bifida in a high-risk region for neural tube defects.
Birth Defects Res A Clin Mol Teratol
; 103(1): 37-44, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131656
14.
An association study between SUFU gene polymorphisms and neural tube defects.
Int J Neurosci
; 124(6): 436-42, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24070372
15.
Long interspersed nucleotide element-1 hypomethylation in folate-deficient mouse embryonic stem cells.
J Cell Biochem
; 114(7): 1549-58, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23297156
16.
Altered methylation of IGF2 DMR0 is associated with neural tube defects.
Mol Cell Biochem
; 380(1-2): 33-42, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23690138
17.
Association between PTCH1 polymorphisms and risk of neural tube defects in a Chinese population.
Birth Defects Res A Clin Mol Teratol
; 97(6): 409-15, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23761049
18.
Effect of epigenetic activating of Dlk1-Dio3 imprinted cluster on miR-370 expression due to folate deficiency during nerve development.
J Nutr Biochem
; 116: 109297, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36907530
19.
Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants.
Genes (Basel)
; 13(3)2022 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35328089
20.
Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers.
Mol Genet Genomic Med
; 8(11): e1485, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32870608