Cuiling Li
Guangzhou Medical University
7 Papers
23 Citations
Cuiling Li is an academic researcher from Guangzhou Medical University. The author has contributed to research in topics: Compound heterozygosity & Internal medicine. The author has an hindex of 4, co-authored 7 publications.
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Papers
Molecular diagnosis of maturity-onset diabetes of the young in a cohort of Chinese children.
Aijing Xu,Yunting Lin,Huiying Sheng,Jing Cheng,Huifen Mei,Tzer Hwu Ting,Chunhua Zeng,Cuili Liang,Wen Zhang,Cuiling Li,Xiuzhen Li,Li Liu +11 more
TL;DR: The purpose of this study was to investigate the molecular basis of maturity‐onset diabetes of the young by whole‐exome sequencing (WES) and estimate the frequency and describe the clinical characteristics of MODY in southern China.
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Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China
Aijing Xu,Jing Cheng,Huiying Sheng,Zhe Wen,Yunting Lin,Zhihong Zhou,Chunhua Zeng,Yongxian Shao,Cuiling Li,Li Liu,Xiuzhen Li +10 more
TL;DR: Mutations in ABCC8 are the most common causes of CHI in this cohort of 65 children with CHI from southern China and also to explore the most appropriate therapeutic approaches.
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A compound heterozygous mutation of ABCC8 gene causing a diazoxide-unresponsive congenital hyperinsulinism with an atypical form: Not a focal lesion in the pancreas reported by ¹⁸F-DOPA-PET/CT scan.
Wen Zhang,Li Liu,Zhe Wen,Jing Cheng,Cuiling Li,Xiuzhen Li,Huilin Niu,Fenghua Wang,Huiying Sheng,Hongsheng Liu +9 more
TL;DR: This study characterized a case of CHI with a compound heterozygous mutation of ABCC8 gene, a severe heterogeneous disorder due to dysregulation of insulin secretion from the pancreatic β-cells leading to severe hypoglycemia in infancy, and found some new characteristics that have never been reported.
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Kniest dysplasia due to mutation of COL2A1 gene
Moling Wu,Li Liu,Zhizi Zhou,Huiying Sheng,Xi Yin,Xiuzhen Li,Jing Cheng,Yonglan Huang,Yanna Cai,Cuiling Li,Li-ping Fan,Hongsheng Liu +11 more
TL;DR: The probands are the first cases of Kniest dysplasia described in China, and so was the p.Ala302Val mutation, which was found in the coding region of the COL2A1 gene.
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Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease.
TL;DR: The results confirm the high prevalence of the c.1935C>A mutation in Chinese patients with classic infantile Pompe disease and identify the novel alterations in the GAA gene will help to broaden the spectrum of the G AA mutations causing Pompe disease.
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