Wu B - Search Results

1

A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family.

Wang F, Xiong S, Wu L, Chopra M, Hu X, Wu B. Wang F, et al. Among authors: wu b, wu l. BMC Med Genet. 2018 May 30;19(1):90. doi: 10.1186/s12881-018-0611-z. BMC Med Genet. 2018. PMID: 29843636 Free PMC article.

2

A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.

Xu X, Xu Q, Zhang Y, Zhang X, Cheng T, Wu B, Ding Y, Lu P, Zheng J, Zhang M, Qiu Z, Yu X. Xu X, et al. Among authors: wu b. BMC Med Genet. 2012 Aug 21;13:75. doi: 10.1186/1471-2350-13-75. BMC Med Genet. 2012. PMID: 22909152 Free PMC article.

3

KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant.

Wang H, Qian Y, Wu B, Zhang P, Zhou W. Wang H, et al. Among authors: wu b. BMC Med Genet. 2015 Oct 31;16:101. doi: 10.1186/s12881-015-0247-1. BMC Med Genet. 2015. PMID: 26521233 Free PMC article.

4

Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome.

Huang Z, Miao S, Wang L, Zhang P, Wu B, Wu J, Huang Y. Huang Z, et al. Among authors: wu b, wu j. BMC Gastroenterol. 2015 Nov 25;15:166. doi: 10.1186/s12876-015-0397-9. BMC Gastroenterol. 2015. PMID: 26607058 Free PMC article.

5

Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children.

Xu D, Sun C, Zhou Z, Wu B, Yang L, Chang Z, Zhang M, Xi L, Cheng R, Ni J, Luo F. Xu D, et al. Among authors: wu b. BMC Med Genet. 2018 May 16;19(1):79. doi: 10.1186/s12881-018-0591-z. BMC Med Genet. 2018. PMID: 29769040 Free PMC article.

6

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X, Yan K, Gao Y, Wang H, Chen G, Wu B, Qin Q, Yang L, Zhou W. Chen X, et al. Among authors: wu b. BMC Med Genet. 2019 May 30;20(1):93. doi: 10.1186/s12881-019-0813-z. BMC Med Genet. 2019. PMID: 31146700 Free PMC article.

7

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.

Yu S, Wu B, Qian Y, Zhang P, Lu Y, Dong X, Wang Q, Zhao X, Liu R, Zhou W, Wang H. Yu S, et al. Among authors: wu b. Mol Genet Genomic Med. 2019 Dec;7(12):e1009. doi: 10.1002/mgg3.1009. Epub 2019 Oct 22. Mol Genet Genomic Med. 2019. PMID: 31637876 Free PMC article.

8

Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.

Qian Y, Wu B, Lu Y, Zhou W, Wang S, Wang H. Qian Y, et al. Among authors: wu b. BMC Med Genet. 2020 Feb 12;21(1):31. doi: 10.1186/s12881-020-0957-x. BMC Med Genet. 2020. PMID: 32050918 Free PMC article.

9

A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.

Li W, Zhang M, Zhang L, Shi Y, Zhao L, Wu B, Li X, Zhou S. Li W, et al. Among authors: wu b. BMC Neurol. 2020 Jul 13;20(1):278. doi: 10.1186/s12883-020-01854-6. BMC Neurol. 2020. PMID: 32660532 Free PMC article.

10

Identification of TSC2 mosaic mutation limited to cortical tuber with TSC targeted sequencing: a case report and literature review.

Zhou Y, Wang X, Wang J, Ding Y, Wang Y, Li H, Zhao R, Wu B. Zhou Y, et al. Among authors: wu b. Childs Nerv Syst. 2021 Dec;37(12):3945-3949. doi: 10.1007/s00381-021-05059-1. Epub 2021 Jan 30. Childs Nerv Syst. 2021. PMID: 33517515 Review.

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