Benchang Li
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Explore the profile of Benchang Li including associated specialties, affiliations and a list of published articles.
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11
Citations
18
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Recent Articles
1.
Tie X, Che F, Liu S, Mo L, Zhang L, Li B, et al.
Am J Med Genet A
. 2024 Nov;
197(3):e63930.
PMID: 39542866
Snijders Blok-Campeau syndrome (SNIBCPS, OMIM#618205) is an autosomal dominant neurodevelopmental disorder attributed to pathogenic variants in the chromodomain helicase DNA binding protein 3 (CHD3) gene. To date, more than 100...
2.
Zhang L, Yang Y, Che F, Li B, Mo L, Wang G, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2024 Nov;
41(11):1349-1355.
PMID: 39528286
Objective: To analyze the clinical characteristics of a child with Congenital disorder of glycosylation due to compound heterozygous variants of COG6 gene (COG6-CDG). Methods: A child who was admitted to...
3.
Li B, Che F, Mo L, Zhang L, Wang G, Yang Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2024 Aug;
41(8):916-924.
PMID: 39097272
Objective: To explore the clinical phenotype and genetic variant in a Chinese pedigree affected with Hunter syndrome and create immortalized cell lines for the affected pedigree members. Methods: A pedigree...
4.
Sun L, Han Y, Li B, Yang Y, Fang Y, Ren X, et al.
J Clin Immunol
. 2024 May;
44(6):127.
PMID: 38773005
We described the diagnosis and treatment of a patient with autoinflammatory disease, named "Deficiency in ELF4, X-linked (DEX)". A novel ELF4 variant was discovered and its pathogenic mechanism was elucidated....
5.
Che F, Li C, Zhang L, Qian C, Mo L, Li B, et al.
J Appl Genet
. 2024 Mar;
65(2):417.
PMID: 38523169
No abstract available.
6.
Che F, Li C, Zhang L, Qian C, Mo L, Li B, et al.
J Appl Genet
. 2024 Feb;
65(2):367-373.
PMID: 38418803
Since its initial identification, the Forkhead Box P2 gene (FOXP2) has maintained its singular status as the archetypal monogenic determinant implicated in Mendelian forms of human speech and language impairments....
7.
Mo L, Tie X, Che F, Zhang L, Li B, Wang G, et al.
Pediatr Neurol
. 2024 Feb;
152:200-208.
PMID: 38306901
Background: Fatty acid 2-hydroxylase (FA2H) is encoded by the FA2H gene, with mutations therein leading to the neurodegenerative condition, spastic paraplegia-35 (SPG35). We aim to elucidate the genetic underpinnings of...
8.
Li B, Zhou Y, Che F, Zhou R, Mo L, Zhang L, et al.
Stem Cell Res
. 2023 Jul;
71:103165.
PMID: 37478672
Li-Campeau syndrome (LICAS) is a syndromic neurodevelopmental disorder characterized by autosomal recessive inheritance and global developmental delay. In this study, we reported the generation of a novel induced pluripotent stem...
9.
Zhang L, Tie X, Che F, Wang G, Ge Y, Li B, et al.
Mol Cytogenet
. 2023 Jun;
16(1):11.
PMID: 37303060
Background: Copy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to widespread phenotypes, it is necessary to identify the major genes contributing to phenotypic presentation....
10.
Chai Q, Li B, Xu Z
Sheng Wu Gong Cheng Xue Bao
. 2014 Jul;
30(3):472-84.
PMID: 25007583
The subcellular localization and the resistance to fungal pathogen Gibberella fujikuroi of the protein encoded by Arabidopsis AtELHYPRP2 (EARLI1-LIKE HYBRID PROLINE-RICH PROTEIN 2, AT4G12500) were investigated using transgenic tobacco plants....