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Shili Gu

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Recent Articles
1.
Feng B, Li X, Zhang Q, Wang Y, Gu S, Yao R, et al.
Orphanet J Rare Dis . 2023 Sep; 18(1):284. PMID: 37697378
Background: Cardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents with unique craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. This study describes the phenotypic spectrum...
2.
Li Z, Wang Y, Li X, Feng B, Gu S, Yang F, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi . 2023 Aug; 40(8):998-1003. PMID: 37532501
Objective: To explore the clinical characteristics and genetic basis of a child with Teebi hypertelorism syndrome 1 (TBHS1). Methods: A child with TBHS1 who was admitted to the Children's Medical...
3.
Gao S, Zhang Q, Feng B, Gu S, Li Z, Sun L, et al.
Mol Genet Genomic Med . 2023 Jul; 11(9):e2235. PMID: 37469238
Background: Primary ciliary dyskinesia (PCD) is a type of ciliary dyskinesia that is usually caused by autosomal recessive inheritance and can manifest as recurrent respiratory infections, bronchiectasis, infertility, laterality defects,...
4.
Guo W, Atchike D, Ahmad M, Chen Y, Gu S
Environ Sci Pollut Res Int . 2023 Apr; 30(24):66386-66399. PMID: 37097576
We looked at the long-term and short-term diversified relationships between industrial agglomeration, aggregate energy consumption, residential construction sector growth, and air pollution in China's 30 provincial units from 2004 through...
5.
Zhang Q, Chang G, Tang Y, Gu S, Ding Y, Chen Y, et al.
BMC Pediatr . 2023 Mar; 23(1):138. PMID: 36991406
Background: Dyslipidemia, especially hypercholesterolemia is of significant clinical interest. Precise diagnosis is not paid enough attention to about the management of pediatric patients with hypercholesterolemia, which is especially apparent in...
6.
Feng B, Chang G, Zhang Q, Li X, Tang Y, Gu S, et al.
Mol Genet Genomic Med . 2022 Apr; 10(6):e1951. PMID: 35434947
Background: Mosaic variegated aneuploidy (MVA) syndrome is a rare, autosomal recessive genetic disease. Here, we report an ultra-rare case of MVA syndrome associated with a CEP57 variant. Methods: We retrospectively...