Xu B - Search Results

1

Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report.

Chen J, Xiang Q, Xiao X, Xu B, Xie H, Wang H, Yang M, Liu S. Chen J, et al. Among authors: xu b. Mol Genet Genomic Med. 2024 Jan;12(1):e2303. doi: 10.1002/mgg3.2303. Epub 2023 Nov 6. Mol Genet Genomic Med. 2024. PMID: 37930140 Free PMC article.

2

Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability.

Yang M, Xu B, Wang J, Zhang Z, Xie H, Wang H, Hu T, Liu S. Yang M, et al. Among authors: xu b. Epilepsy Res. 2021 Feb;170:106552. doi: 10.1016/j.eplepsyres.2021.106552. Epub 2021 Jan 7. Epilepsy Res. 2021. PMID: 33486335

3

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing.

Yang M, Xie H, Xu B, Xiang Q, Wang H, Hu T, Liu S. Yang M, et al. Among authors: xu b. J Clin Lab Anal. 2021 Sep;35(9):e23968. doi: 10.1002/jcla.23968. Epub 2021 Aug 17. J Clin Lab Anal. 2021. PMID: 34403521 Free PMC article.

4

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family.

Chen J, Xiang Q, Xiao X, Xu B, Xie H, Wang H, Yang M, Liu S. Chen J, et al. Among authors: xu b. BMC Med Genomics. 2022 Jul 8;15(1):154. doi: 10.1186/s12920-022-01296-8. BMC Med Genomics. 2022. PMID: 35804365 Free PMC article.

5

Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.

Zhao Q, Xu B, Xiang Q, Tan Y, Xie H, Gao Q, Wen L, Wang H, Yang M, Liu S. Zhao Q, et al. Among authors: xu b. Mol Genet Genomic Med. 2023 Mar;11(3):e2124. doi: 10.1002/mgg3.2124. Epub 2022 Dec 20. Mol Genet Genomic Med. 2023. PMID: 36538006 Free PMC article.

6

Case Report: The compound heterozygotes variants in FLT4 causes autosomal recessive hereditary lymphedema in a Chinese family.

Xiang Q, Chen J, Xiao X, Xu B, Xie H, Wang H, Yang M, Liu S. Xiang Q, et al. Among authors: xu b. Front Genet. 2023 Mar 22;14:1140406. doi: 10.3389/fgene.2023.1140406. eCollection 2023. Front Genet. 2023. PMID: 37035731 Free PMC article.

7

[Clinical manifestations and genetic analysis of 4 patients with variants of FBN1 gene].

Liu X, Yang M, Xie H, Zhao Q, Xu B, Xiao X, Tan Y, Liu S. Liu X, et al. Among authors: xu b. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jul 10;40(7):781-786. doi: 10.3760/cma.j.cn511374-20221212-00866. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37368377 Chinese.

8

A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus.

He T, Yao Q, Xu B, Yang M, Jiang J, Xiang Q, Xiao L, Liu S, Wang H, Zhang X. He T, et al. Among authors: xu b. Mol Genet Genomic Med. 2023 Nov;11(11):e2253. doi: 10.1002/mgg3.2253. Epub 2023 Jul 24. Mol Genet Genomic Med. 2023. PMID: 37489051 Free PMC article.

9

RCAN family member 3 deficiency contributes to noncompaction of the ventricular myocardium.

Hu T, Liu L, Wang H, Yang M, Xu B, Xie H, Lin Z, Jin X, Wang P, Liu Y, Sun H, Liu S. Hu T, et al. Among authors: xu b. J Genet Genomics. 2024 May;51(5):543-553. doi: 10.1016/j.jgg.2023.12.010. Epub 2024 Jan 3. J Genet Genomics. 2024. PMID: 38181896

10

Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism.

Wang P, Liao H, Wang Q, Xie H, Xu B, Xiang Q, Wang H, Yang M, Liu S. Wang P, et al. Among authors: xu b. Clin Genet. 2024 May;105(5):549-554. doi: 10.1111/cge.14484. Epub 2024 Jan 15. Clin Genet. 2024. PMID: 38225536

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