Cai C - Search Results

1

Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants.

Liu X, Lei M, Xue Y, Li H, Yin J, Li D, Shu J, Cai C. Liu X, et al. Among authors: cai c. Biochem Genet. 2024 Jun;62(3):1811-1826. doi: 10.1007/s10528-023-10488-5. Epub 2023 Sep 23. Biochem Genet. 2024. PMID: 37740860

2

A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.

Xue Y, Zhao Y, Wu B, Shu J, Yan D, Li D, Yu X, Cai C. Xue Y, et al. Among authors: cai c. Mol Genet Genomic Med. 2023 Aug;11(8):e2197. doi: 10.1002/mgg3.2197. Epub 2023 May 19. Mol Genet Genomic Med. 2023. PMID: 37204045 Free PMC article. Review.

3

Pathogenicity analysis and splicing rescue of a classical splice site variant (c.1343+1G>T) of CNOT1 gene associated with neurodevelopmental disorders.

Dong Y, Li W, Meng J, Wang P, Sun M, Zhou F, Li D, Shu J, Cai C. Dong Y, et al. Among authors: cai c. Am J Med Genet A. 2023 Nov;191(11):2775-2782. doi: 10.1002/ajmg.a.63360. Epub 2023 Jul 28. Am J Med Genet A. 2023. PMID: 37507849

4

The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.

Liu X, Meng J, Ma J, Shu J, Gu C, Chen X, Li D, Cai C. Liu X, et al. Among authors: cai c. Mol Biol Rep. 2022 Nov;49(11):10469-10477. doi: 10.1007/s11033-022-07614-8. Epub 2022 Sep 18. Mol Biol Rep. 2022. PMID: 36116096 Review.

5

What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report.

Gu C, Lu X, Ma J, Pu L, Zhi X, Shu J, Li D, Cai C. Gu C, et al. Among authors: cai c. BMC Pediatr. 2022 Jul 30;22(1):459. doi: 10.1186/s12887-022-03515-8. BMC Pediatr. 2022. PMID: 35907814 Free PMC article.

6

Beware of missed diagnosis in patients with multiple genetic diseases: a case report.

Guo D, Li X, Liu N, Yu X, Shu J, Sheng W, Li D, Cai C. Guo D, et al. Among authors: cai c. BMC Pediatr. 2022 Jul 20;22(1):436. doi: 10.1186/s12887-022-03490-0. BMC Pediatr. 2022. PMID: 35858850 Free PMC article.

7

A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report.

Zou Q, Tian Z, Zheng J, Zhi X, Du X, Shu J, Cai C. Zou Q, et al. Among authors: cai c. BMC Med Genet. 2019 Nov 9;20(1):174. doi: 10.1186/s12881-019-0889-5. BMC Med Genet. 2019. PMID: 31706290 Free PMC article.

8

A Novel Two-Nucleotide Deletion of MMADHC Gene Causing cblD Disease in a Chinese Family.

Wang C, Zhang YQ, Zhang SH, Meng YT, Lin SX, Cai CQ, Shu JB. Wang C, et al. Among authors: cai cq. Chin Med J (Engl). 2018 Oct 20;131(20):2477-2479. doi: 10.4103/0366-6999.243561. Chin Med J (Engl). 2018. PMID: 30334532 Free PMC article. No abstract available.

9

Clinical study of autoantibodies in type 1 diabetes mellitus children with ketoacidosis or microalbuminuria.

Zhang M, Wang X, Wang R, Shu J, Zhi X, Gu C, Pu L, Cai C, Yang W, Lv L. Zhang M, et al. Among authors: cai c. J Clin Lab Anal. 2022 Jan;36(1):e24164. doi: 10.1002/jcla.24164. Epub 2021 Dec 3. J Clin Lab Anal. 2022. PMID: 34861060 Free PMC article.

10

Immune characteristics of children with autoimmune encephalitis and the correlation with a short-term prognosis.

Huang JY, Fan WX, Meng J, Cai CQ, Li D. Huang JY, et al. Ital J Pediatr. 2022 Jun 13;48(1):94. doi: 10.1186/s13052-022-01247-0. Ital J Pediatr. 2022. Retraction in: Ital J Pediatr. 2023 Dec 5;49(1):163. doi: 10.1186/s13052-023-01566-w PMID: 35698204 Free PMC article. Retracted.

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